From 66dfa93e48b7430901f1f53d0362f12fdb632f9e Mon Sep 17 00:00:00 2001 From: QUAN LI Date: Mon, 8 Apr 2019 10:26:59 -0230 Subject: [PATCH] orpha_utf8 --- intervardb/orpha.txt.utf8 | 9245 +++++++++++++++++++++++++++++++++++++ 1 file changed, 9245 insertions(+) create mode 100644 intervardb/orpha.txt.utf8 diff --git a/intervardb/orpha.txt.utf8 b/intervardb/orpha.txt.utf8 new file mode 100644 index 0000000..1dcaf3c --- /dev/null +++ b/intervardb/orpha.txt.utf8 @@ -0,0 +1,9245 @@ +Orpha Orpha|Syndrome|Prevalence|Inheritance|Age of onset|OMIM +100 100|Louis-Bar syndrome|1-9 / 1 000 000|Autosomal recessive|Infancy
Childhood|208900 208910 +1000 1000|-|<1 / 1 000 000|X-linked recessive|Adult|300650 +100000 100000|-|-|-|-| +100001 100001|-|-|-|-| +100002 100002|Soft tissue perineurioma|-|-|-| +100003 100003|-|-|-|-| +100006 100006|ABetaE22Q amyloidosis
HCHWA, Dutch type
HCHWA-D
Hereditary cerebral hemorrhage with amyloidosis, Dutch type|<1 / 1 000 000|Autosomal dominant|Adult|605714 +100008 100008|CST3-related amyloidosis
Cystatin amyloidosis
HCHWA, Icelandic type
Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Hereditary cystatin C amyloid angiopathy|<1 / 1 000 000|Autosomal dominant|Adolescent
Adult|105150 +100011 100011|-|-|-|-| +100012 100012|-|-|-|-| +100013 100013|-|-|-|-| +100014 100014|-|-|-|-| +100015 100015|-|-|-|-| +100016 100016|-|-|-|-| +100019 100019|RAEB-1|Unknown|Not applicable|Adult| +100020 100020|RAEB-2|Unknown|Not applicable|Adult| +100021 100021|-|-|-|-| +100022 100022|-|-|-|-| +100024 100024|mu-HCD|<1 / 1 000 000|-|Adult| +100025 100025|Alpha-HCD
IPSID
Immunoproliferative small intestinal disease
Mediterranean lymphoma|Unknown|-|Adolescent
Adult| +100026 100026|Franklin disease
Gamma-HCD|<1 / 1 000 000|-|Adult| +100031 100031|Amelogenesis imperfecta type 1|-|Autosomal dominant
or Autosomal recessive
or X-linked dominant|-|104500 104530 204650 301201 616221 616270 +100032 100032|Amelogenesis imperfecta type 3|-|Autosomal dominant
or Autosomal recessive|-|130900 616221 +100033 100033|Amelogenesis imperfecta type 2|-|Autosomal recessive
or X-linked dominant|-|204700 301200 612529 613211 614832 615887 +100034 100034|Amelogenesis imperfecta type 4|-|Autosomal dominant|-|104510 +100035 100035|-|-|-|-| +100043 100043|CMTDIA|<1 / 1 000 000|Autosomal dominant|Adult|606483 +100044 100044|CMTDIB|<1 / 1 000 000|Autosomal dominant|Childhood
Adolescent
Adult|606482 +100045 100045|CMTDIC|<1 / 1 000 000|Autosomal dominant|Childhood
Adolescent
Adult|608323 +100046 100046|CMTDID|<1 / 1 000 000|Autosomal dominant|Adult|607791 +100047 100047|-|-|-|-| +100048 100048|-|-|-|-| +100049 100049|Primary ILD specific to childhood due to pulmonary surfactant protein anomalies|-|-|-| +100050 100050|HAE-I
Hereditary angioneurotic edema type 1|1-9 / 100 000|Autosomal dominant|All ages|106100 +100051 100051|HAE 2
HAE-II
Hereditary angioneurotic edema type 2|Unknown|Autosomal dominant|All ages|106100 +100054 100054|HAE 3
HAE-III
Hereditary angioneurotic edema type 3
Inherited estrogen-associated angioedema
Inherited estrogen-associated angioneurotic edema
Inherited estrogen-dependent angioedema
Inherited estrogen-dependent angioneurotic edema|Unknown|Autosomal dominant|Adult|610618 +100055 100055|AAE 2
AAE II
Acquired angioneurotic edema type 2|-|Not applicable|Adult| +100056 100056|Acquired angioneurotic edema type 1|-|Not applicable|Adult| +100057 100057|RAAS-blocker-induced angioedema
RAAS-blocker-induced angioneurotic edema
RAE
Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema|Unknown|Multigenic/multifactorial
or Not applicable|Adult|300909 +100067 100067|-|-|-|-| +100069 100069|Semantic primary progressive aphasia
Semantic variant PPA|-|Multigenic/multifactorial
or Not applicable|Adult| +100070 100070|Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA|1-9 / 100 000|Multigenic/multifactorial
or Not applicable|Adult|607485 +100071 100071|-|-|-|-| +100073 100073|NTOS
Neurogenic TOS
Neurogenic cervical rib syndrome
Neurogenic costoclavicular syndrome
Neurogenic thoracic outlet compression syndrome|Unknown|Not applicable|All ages| +100075 100075|-|1-9 / 100 000|-|-| +100076 100076|-|-|-|-| +100077 100077|-|-|-|-| +100078 100078|-|-|-|-| +100079 100079|Appendiceal endocrine tumor|-|-|-| +100080 100080|-|-|-|-| +100081 100081|Rectal endocrine tumor|-|-|-| +100082 100082|-|-|-|-| +100083 100083|-|-|-|-| +100084 100084|-|-|-|-| +100085 100085|Primary hepatic carcinoid tumor|Unknown|Not applicable|Adult| +100086 100086|-|-|-|-| +100087 100087|-|-|-|-| +100088 100088|-|1-5 / 10 000|-|Adult| +100090 100090|-|-|-|-| +100091 100091|-|-|-|-| +100092 100092|GEP-NET
Gastroenteropancreatic neuroendocrine tumor|-|-|-| +100093 100093|-|-|-|-|114900 +100094 100094|-|-|-|-| +1001 1001|Albright hereditary osteodystrophy type 3
Albright hereditary osteodystrophy-like syndrome
Brachydactyly-intellectual disability syndrome
Del(2)(q37)
Deletion 2q37
Deletion 2q37-qter
Monosomy 2q37-qter|<1 / 1 000 000|Not applicable
or Unknown|Neonatal|600430 +100100 100100|-|-|-|-| +100101 100101|-|-|-|-| +1003 1003|-|<1 / 1 000 000|Autosomal dominant|Neonatal|181250 +1005 1005|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|203550 +1006 1006|-|<1 / 1 000 000|Unknown|Infancy
Childhood| +1008 1008|Shokeir syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal|104130 +100924 100924|ALAD porphyria
Porphyria due to ALAD deficiency
Porphyria due to delta-aminolevulinate dehydratase deficiency
Porphyria of Doss|<1 / 1 000 000|Autosomal recessive|Adolescent
Childhood|612740 +100932 100932|-|-|-|-| +100973 100973|Intellectual disability associated with fragile site FRAXE|1-9 / 1 000 000|X-linked recessive|-|309548 +100974 100974|-|Unknown|-|-| +100976 100976|BSI|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|242300 +100978 100978|Benallegue-Lacete syndrome|-|-|-| +100979 100979|Autosomal dominant complex HSP
Autosomal dominant complex SPG
Autosomal dominant complicated HSP
Autosomal dominant complicated SPG
Autosomal dominant complicated spastic paraplegia|1-9 / 100 000|Autosomal dominant|-| +100980 100980|Autosomal dominant pure HSP
Autosomal dominant pure SPG
Autosomal dominant uncomplicated HSP
Autosomal dominant uncomplicated SPG
Autosomal dominant uncomplicated spastic paraplegia|1-9 / 100 000|Autosomal dominant|-| +100981 100981|Autosomal recessive complex HSP
Autosomal recessive complex SPG
Autosomal recessive complicated HSP
Autosomal recessive complicated SPG
Autosomal recessive complicated spastic paraplegia|-|-|-| +100982 100982|Autosomal recessive pure HSP
Autosomal recessive pure SPG
Autosomal recessive uncomplicated HSP
Autosomal recessive uncomplicated SPG
Autosomal recessive uncomplicated spastic paraplegia|-|-|-| +100984 100984|Strümpell disease|1-9 / 1 000 000|Autosomal dominant|Childhood
Adult|182600 +100985 100985|SPG4|-|Autosomal dominant|All ages|182601 +100986 100986|SPG5A|<1 / 1 000 000|Autosomal recessive|-|270800 +100988 100988|Autosomal dominant familial spastic paraplegia type 3
SPG6|<1 / 1 000 000|Autosomal dominant|-|600363 +100989 100989|SPG8|<1 / 1 000 000|Autosomal dominant|-|603563 +100990 100990|Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome
SPG9
Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Childhood
Adolescent
Adult|601162 +100991 100991|SPG10|<1 / 1 000 000|Autosomal dominant|-|604187 +100993 100993|SPG12|<1 / 1 000 000|Autosomal dominant|-|604805 +100994 100994|SPG13|<1 / 1 000 000|Autosomal dominant|-|605280 +100995 100995|SPG14|<1 / 1 000 000|Autosomal recessive|Adult|605229 +100996 100996|Hereditary spastic paraparesis type 15
Kjellin syndrome
SPG15
Spastic paraplegia-retinal degeneration syndrome|<1 / 1 000 000|Autosomal recessive|-|270700 +100997 100997|SPG16|<1 / 1 000 000|X-linked recessive|Infancy|300266 +100998 100998|Distal hereditary motor neuropathy type 5B
SPG17
Silver syndrome
Spastic paraplegia-amyotrophy of hands and feet
dHMN5B|<1 / 1 000 000|Autosomal dominant|-|270685 +100999 100999|SPG19|<1 / 1 000 000|Autosomal dominant|Adult|607152 +101 101|DRPLA
Dentatorubropallidoluysian atrophy
Naito-Oyanagi disease|1-9 / 1 000 000|Autosomal dominant|All ages|125370 +1010 1010|Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
PPK-CA, Stevanovic type
Palmoplantar keratoderma and congenital alopecia, Stevanovic type|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|104100 +101000 101000|Childhood-onset spastic paraparesis-distal muscle wasting syndrome
SPG20
Troyer syndrome|<1 / 1 000 000|Autosomal recessive|Infancy|275900 +101001 101001|Mast syndrome
SPG21|<1 / 1 000 000|Autosomal recessive|Childhood
Adolescent
Adult|248900 +101003 101003|Lison syndrome
SPG23
Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|270750 +101004 101004|SPG24|<1 / 1 000 000|Autosomal recessive|Infancy|607584 +101005 101005|Autosomal recessive spastic paraplegia-disc herniation syndrome
SPG25|<1 / 1 000 000|Autosomal recessive|Adult|608220 +101006 101006|GM2 synthase deficiency
SPG26|<1 / 1 000 000|Autosomal recessive|Childhood
Adolescent|609195 +101007 101007|SPG27|<1 / 1 000 000|Autosomal recessive|Adult
Adolescent|609041 +101008 101008|SPG28|<1 / 1 000 000|Autosomal recessive|-|609340 +101009 101009|SPG29|<1 / 1 000 000|Autosomal dominant|Adolescent|609727 +101010 101010|SPG30|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Adolescent
Adult|610357 +101011 101011|SPG31|Unknown|Autosomal dominant|Childhood|610250 +101016 101016|Romano-Ward long QT syndrome|1-5 / 10 000|Autosomal dominant|All ages|192500 600919 603830 611818 611819 611820 612955 613485 613688 613693 613695 616247 616249 +101022 101022|-|-|-|-|210250 +101023 101023|-|-|-|-| +101028 101028|TALDO|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|606003 +101029 101029|-|-|-|-| +101030 101030|-|-|-|-| +101033 101033|-|-|-|-| +101039 101039|EFMR
Familial epilepsy and mental retardation limited to females|-|Unknown|-|300088 +101041 101041|-|Unknown|Autosomal dominant|All ages|202400 +101043 101043|-|-|-|-| +101046 101046|ADEAF
ADLTE
ADPEAF
Autosomal dominant lateral temporal lobe epilepsy
Partial epilepsy with auditory aura
Partial epilepsy with auditory features|Unknown|Autosomal dominant|Childhood
Adolescent
Adult|600512 616436 616461 +101049 101049|FHH type 2|-|Autosomal dominant|-|145981 +101050 101050|FHH type 3|-|-|-|600740 +101063 101063|Complete situs inversus
Complete situs inversus viscerum
Situs inversus|-|Autosomal recessive
or Autosomal dominant
or Not applicable|-| +101068 101068|CSCD
Congenital hereditary stromal dystrophy
Witschel dystrophy|<1 / 1 000 000|Autosomal dominant|All ages|610048 +101070 101070|-|-|-|-|606854 +101071 101071|-|-|-|-| +101075 101075|CMT1X
CMTX1|-|X-linked dominant|Childhood|302800 +101076 101076|CMTX2|-|X-linked recessive|-|302801 +101077 101077|CMT3X
CMTX3|-|X-linked recessive|-|302802 +101078 101078|CMT4X
CMTX4
Cowchock syndrome|<1 / 1 000 000|X-linked recessive|Childhood|310490 +101081 101081|CMT1A
Microduplication 17p12|1-5 / 10 000|Autosomal dominant|Childhood|118220 +101082 101082|CMT1B|1-9 / 100 000|Autosomal dominant|Infancy
Childhood
Adolescent
Adult|118200 +101083 101083|CMT1C|<1 / 1 000 000|Autosomal dominant|Childhood|601098 +101084 101084|CMT1D|-|Autosomal dominant|Adolescent
Infancy
Childhood
Adult|607678 +101085 101085|CMT1F|Unknown|Autosomal dominant|Infancy
Childhood|607734 +101088 101088|HIGM1
Hyper-IgM syndrome due to CD40 ligand deficiency
Hyper-IgM syndrome due to CD40L deficiency
Hyper-IgM syndrome type 1
XHIGM|-|-|-|308230 +101089 101089|AID deficiency
Activation-induced cytidine deaminase deficiency
HIGM2|-|-|-|605258 +101090 101090|HIGM3
Hyper-IgM syndrome due to CD40 deficiency|-|-|-|606843 +101091 101091|HIGM4|-|-|-|608184 +101092 101092|HIGM5
Hyper-IgM syndrome due to UNG deficiency
Hyper-IgM syndrome due to uracil N-glycosylase|-|-|-|608106 +101096 101096|-|-|-|-| +101097 101097|ARCMT2K
Autosomal recessive axonal CMT4C4
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K|Unknown|Autosomal recessive|Infancy
Neonatal|607706 607831 +101101 101101|AR-CMT2B2
Autosomal recessive axonal CMT4C3
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2|<1 / 1 000 000|Autosomal recessive|Adult|605589 +101102 101102|AR-CMT2C
Autosomal recessive axonal CMT4C2
Axonal Charcot-Marie-Tooth disease with pyramidal involvement|<1 / 1 000 000|Autosomal recessive|Childhood|607731 +101104 101104|-|-|-|-| +101106 101106|-|-|-|-| +101108 101108|SCA23|<1 / 1 000 000|Autosomal dominant|Adult|610245 +101109 101109|SCA28|Unknown|Autosomal dominant|Childhood|610246 +101110 101110|SCA20|<1 / 1 000 000|Autosomal dominant|Adult|608687 +101111 101111|SCA25|<1 / 1 000 000|Autosomal dominant|All ages|608703 +101112 101112|SCA26|<1 / 1 000 000|Autosomal dominant|Adult|609306 +101150 101150|Autosomal recessive Segawa syndrome
DYT5b
Tyrosine hydroxylase deficiency
Tyrosine hydroxylase-deficient dopa-responsive dystonia|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal|605407 +101206 101206|APV/ADA, Fallot type
Absence of pulmonary valve-Fallot's tetralogy-absence of ductus arteriosus syndrome
PVA/ADA, Fallot type|-|-|-| +101330 101330|PCT|1-9 / 100 000|Autosomal dominant
or Multigenic/multifactorial|Adult|176090 176100 +101334 101334|-|-|Not applicable|-| +101351 101351|-|-|Autosomal dominant|-|271400 +1014 1014|Devriendt-Vandenberghe-Fryns syndrome|<1 / 1 000 000|Unknown|Neonatal|601217 +101433 101433|-|-|-|-| +101435 101435|Rare genetic ophthalmologic disease|-|-|-| +101685 101685|Rare NSID|-|Autosomal dominant
or Autosomal recessive
or X-linked recessive
or X-linked dominant|-| +1018 1018|Xq22.3 microdeletion syndrome|-|X-linked dominant|Infancy
Neonatal|150700 308940 +101932 101932|-|-|-|-| +101934 101934|-|-|-|-| +101936 101936|-|-|-|-| +101937 101937|-|-|-|-| +101938 101938|-|-|-|-| +101939 101939|-|-|-|-| +101940 101940|-|-|-|-| +101941 101941|-|-|-|-| +101943 101943|-|-|-|-| +101944 101944|-|-|-|-| +101945 101945|-|-|-|-| +101949 101949|-|-|-|-| +101950 101950|-|-|-|-| +101952 101952|-|-|-|-| +101953 101953|-|-|-|-| +101954 101954|-|-|-|-| +101955 101955|-|-|-|-| +101956 101956|-|-|-|-| +101957 101957|-|-|-|-| +101958 101958|-|-|-|-| +101959 101959|CPAI
Chronic adrenocorticoid insufficiency|1-5 / 10 000|Multigenic/multifactorial|All ages| +101960 101960|-|-|-|-| +101963 101963|-|-|-|-| +101972 101972|-|-|-|-| +101977 101977|-|-|-|-| +101985 101985|-|-|-|-| +101987 101987|-|-|-|-| +101988 101988|-|-|-|-| +101992 101992|-|-|-|-| +101995 101995|-|-|-|-| +101997 101997|-|1-9 / 100 000|-|-| +101998 101998|-|-|-|-| +102 102|MSA
Multisystem atrophy|1-9 / 100 000|Multigenic/multifactorial
or Not applicable|Adult|146500 +1020 1020|EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease|1-9 / 100 000|Autosomal dominant|Adult|104300 104310 602096 605055 605526 606187 606889 607116 607822 609636 609790 611073 611152 611154 611155 +102000 102000|-|-|-|-| +102002 102002|-|-|-|-| +102003 102003|-|-|-|-| +102005 102005|-|-|-|-| +102006 102006|-|-|-|All ages| +102009 102009|Lissencephaly type 1|-|-|-| +102010 102010|-|-|-|-| +102011 102011|-|-|-|-| +102012 102012|Pure HSP
Pure SPG
Pure familial spastic paraplegia
Uncomplicated HSP
Uncomplicated SPG
Uncomplicated familial spastic paraplegia
Uncomplicated hereditary spastic paraplegia|-|-|-| +102013 102013|Complex HSP
Complex SPG
Complex familial spastic paraplegia
Complicated HSP
Complicated SPG
Complicated familial spastic paraplegia
Complicated hereditary spastic paraplegia|-|-|-| +102014 102014|-|-|-|-| +102015 102015|-|-|-|-| +102020 102020|Autosomal deletion|-|-|-| +102021 102021|Rickettsiae disease|-|-|-| +102022 102022|Spotted fever rickettsiae disease|-|-|-| +102023 102023|Typhus-group rickettsiae disease|-|-|-| +102024 102024|HHV-8-related disorder|-|-|-| +102025 102025|-|-|-|-| +1021 1021|-|<1 / 1 000 000|Autosomal recessive|Neonatal|204110 +102237 102237|-|-|-|-| +102283 102283|MCA/MR
Multiple congenital anomalies-intellectual disability with or without dysmorphism|-|-|-| +102284 102284|MCA/variable MR
Multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome|-|-|-| +102285 102285|MCA without intellectual disability
Multiple congenital anomalies without intellectual disability with or without dysmorphism|-|-|-| +1023 1023|Ambras syndrome|<1 / 1 000 000|Unknown|Neonatal|145701 +102369 102369|-|-|-|-| +102373 102373|-|-|-|-| +102379 102379|AML and myelodysplastic syndromes related to alkylating agent|-|-|-| +102381 102381|AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor|-|-|-| +1027 1027|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|601360 +102724 102724|AML with t(8;21)(q22;q22) translocation|-|-|-| +1028 1028|-|<1 / 1 000 000|-|No data available|104570 +1031 1031|-|<1 / 1 000 000|Autosomal recessive|Childhood|204690 +1032 1032|-|-|-|-|222690 +1034 1034|ADAM syndrome
Amniotic deformity-adhesion-mutilation syndrome|<1 / 1 000 000|Autosomal recessive
or Not applicable
or Unknown|Antenatal| +1035 1035|Ampola syndrome|-|-|-|249650 +1037 1037|AMC
Amyoplasia congenita
Arthromyodysplasia congenita
Congenital amyoplasia
Congenital arthromyodysplasia
Multiple congenital arthrogryposis
Myodysplasia|1-9 / 100 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive
or Not applicable|Neonatal| +103907 103907|Maltase-glucoamylase deficiency|Unknown|-|Childhood| +103908 103908|Na-H exchange deficiency|<1 / 1 000 000|Autosomal recessive|-|270420 616868 +103909 103909|Isolated trehalose intolerance|Unknown|Autosomal dominant|-|612119 +103910 103910|-|<1 / 1 000 000|-|Infancy
Neonatal| +103912 103912|-|<1 / 1 000 000|-|Infancy
Neonatal| +103916 103916|-|-|-|-| +103917 103917|-|-|-|-| +103918 103918|TCP
Tropical calcific chronic pancreatitis|Unknown|-|Childhood|608189 +103919 103919|AIP|-|Not applicable|-| +103920 103920|-|-|-|-| +104 104|LHON
Leber optic atrophy|1-9 / 100 000|Mitochondrial inheritance|Adolescent
Adult|308905 535000 +1040 1040|Maroteaux-Verloes-Stanescu syndrome
Regressive metaphyseal dysplasia|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|602111 613073 +104003 104003|-|-|-|-| +104004 104004|-|-|-|-| +104005 104005|-|-|-|-| +104006 104006|-|-|-|-| +104007 104007|-|-|-|-| +104008 104008|-|1-9 / 100 000|-|-| +104009 104009|-|-|-|-| +104010 104010|-|-|-|-| +104011 104011|Rare intestinal tumor
Rare tumor of bowel|-|-|-| +104012 104012|-|-|-|-| +104013 104013|-|-|-|-| +104075 104075|Adenocarcinoma of small bowel|-|-|-| +104076 104076|-|-|-|-| +104077 104077|-|-|-|-| +104078 104078|-|-|-|-| +1041 1041|Fetal anasarca
Fetal hydrops
Generalized fetal edema
HF|Unknown|Not applicable|Antenatal
Neonatal|236750 +1044 1044|-|Unknown|Autosomal dominant|No data available|102800 +1046 1046|Water-West syndrome|<1 / 1 000 000|Unknown|Neonatal|600461 +1047 1047|-|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive
or X-linked dominant
or Mitochondrial inheritance
or Not applicable|All ages| +1048 1048|-|1-9 / 1 000 000|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal|206500 +105 105|Urethral atresia|-|Not applicable|Neonatal
Antenatal| +1051 1051|Corneal anesthesia-deafness-intellectual disability syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|122430 +1052 1052|Warburton-Anyane-Yeboa syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Neonatal
Antenatal|257300 614114 +1053 1053|Vein of Galen arteriovenous malformations|Unknown|Not applicable|Infancy
Neonatal
Antenatal| +1054 1054|-|Unknown|Unknown|Adult| +1055 1055|-|-|-|Antenatal
Neonatal| +1059 1059|Bean syndrome|Unknown|Autosomal dominant|Childhood|112200 +1062 1062|-|<1 / 1 000 000|Autosomal dominant|Childhood|106070 +1063 1063|Nakagawa angioblastoma|Unknown|Multigenic/multifactorial
or Not applicable|Childhood|607859 +1064 1064|Sommer-Rathbun-Battles syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|206750 +1065 1065|Gillespie syndrome|<1 / 1 000 000|Autosomal recessive
or Autosomal dominant
or Not applicable|Infancy
Neonatal|206700 +1067 1067|-|<1 / 1 000 000|Autosomal dominant|Childhood| +1068 1068|Walker-Dyson syndrome|<1 / 1 000 000|Autosomal dominant|Childhood| +1069 1069|-|<1 / 1 000 000|Autosomal dominant|Neonatal
Antenatal|106220 +107 107|Branchiootorenal syndrome|Unknown|Autosomal dominant|All ages|113650 610896 +1070 1070|-|Unknown|-|Childhood
Adolescent
Adult
Elderly| +1071 1071|AEC syndrome
Hay-Wells syndrome|Unknown|Autosomal dominant|Neonatal|106260 +1072 1072|Ankyloblepharon filiforme adnatum|Unknown|Autosomal dominant|Neonatal|106250 +1074 1074|Aughton-Hufnagle syndrome|<1 / 1 000 000|Unknown|Neonatal| +1077 1077|Ankylosis of teeth|Unknown|-|Childhood| +1078 1078|Piussan-Lenaerts-Mathieu syndrome|<1 / 1 000 000|Autosomal dominant|All ages|188201 +108 108|-|<1 / 1 000 000|Not applicable|All ages| +1081 1081|-|-|-|-| +1083 1083|-|Unknown|Autosomal recessive|Infancy
Neonatal|614019 616212 +1084 1084|-|Unknown|Unknown|Infancy
Neonatal| +1088 1088|Rommen-Mueller-Sybert syndrome|-|-|-| +108959 108959|-|-|-|-| +108961 108961|-|-|-|-| +108963 108963|-|-|-|-| +108965 108965|-|-|-|-| +108967 108967|-|-|-|-| +108969 108969|-|-|-|-| +108971 108971|-|-|-|-| +108973 108973|-|-|-|-| +108977 108977|-|-|-|-| +108979 108979|-|-|-|-| +108985 108985|-|-|-|-| +108987 108987|-|-|-|-| +108989 108989|-|-|-|-| +108991 108991|-|-|-|-| +108993 108993|-|-|-|-| +108995 108995|-|-|-|-| +108997 108997|-|-|-|-| +108999 108999|-|-|-|-| +109 109|BRRS
Myhre-Riley-Smith syndrome|Unknown|Autosomal dominant|Infancy
Neonatal|153480 +109007 109007|-|-|-|-| +109009 109009|-|-|-|-| +109011 109011|-|-|-|-| +1092 1092|-|<1 / 1 000 000|-|Neonatal|267400 +1094 1094|Teebi-Kaurah syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|607214 +11 11|49,XXXXX syndrome
Penta-X
Poly-X|Unknown|-|Neonatal| +110 110|BBS|1-9 / 1 000 000|Oligogenic
or Autosomal recessive|Infancy
Neonatal
Antenatal|209900 600151 605231 615981 615982 615983 615984 615985 615986 615987 615988 615989 615990 615991 615992 615993 615994 615995 615996 617119 +1101 1101|Cassia Stocco dos Santos syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +1104 1104|Fryns microphthalmia syndrome
Microphthalmia with facial clefting|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|600776 +1106 1106|Anophthalmia-syndactyly syndrome
OAS
Ophthalmoacromelic syndrome
Waardenburg anophthalmia syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|206920 +111 111|3-methylglutaconic aciduria type 2
BTHS
Cardioskeletal myopathy with neutropenia and abnormal mitochondria
Cardioskeletal myopathy-neutropenia syndrome
MGA2
X-linked cardioskeletal myopathy and neutropenia|1-9 / 1 000 000|X-linked recessive|Childhood|302060 +1110 1110|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|107500 +1112 1112|Johnson-Munson syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|207620 +1113 1113|-|<1 / 1 000 000|Autosomal dominant|Neonatal
Antenatal|600384 +1114 1114|-|1-5 / 10 000|Autosomal dominant
or Not applicable|Antenatal
Neonatal|107600 +1115 1115|-|<1 / 1 000 000|Autosomal recessive|Neonatal|600360 +1116 1116|Autosomal recessive aplasia cutis
Bronspiegel-Zelnick syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|207731 +1117 1117|Gershoni-Baruch-Leibo syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|601075 +1118 1118|-|<1 / 1 000 000|Autosomal dominant|Neonatal|113310 +112 112|Renal tubular normotensive hypokalemic alkalosis with hypercalciuria
Salt-losing tubular disorder, Henle's loop type
Salt-wasting tubulopathy, Henle's loop type|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Antenatal
Neonatal
Infancy
Childhood
Adolescent
Adult|241200 300971 601198 601678 602522 607364 613090 +1120 1120|Mardini-Nyhan syndrome|<1 / 1 000 000|-|-|601612 +1121 1121|-|-|-|-| +1122 1122|Ulnar hypoplasia-lobster-claw deformity of feet syndrome
Van den Berghe-Dequecker syndrome|<1 / 1 000 000|-|Neonatal|314360 +1123 1123|Lynch-Lee-Murday syndrome|-|-|-| +1125 1125|Oculomotor apraxia, Cogan type|<1 / 1 000 000|Autosomal recessive|Childhood|257550 +1126 1126|-|-|-|-|601374 +1129 1129|Kosztolanyi syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal| +113 113|BDCS
Follicular atrophoderma and basal cell carcinomas|<1 / 1 000 000|X-linked dominant|Infancy
Neonatal|301845 +1130 1130|De Die-Smulders-Vles-Fryns syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal| +1131 1131|Mandibulofacial dysostosis, Toriello type
X-linked branchial arch syndrome
X-linked mandibulofacial dysostosis with limb anomalies|<1 / 1 000 000|X-linked recessive|Neonatal|301950 +1132 1132|-|Unknown|Not applicable|Childhood| +1133 1133|Acrorenal defect-ectodermal dysplasia-diabetes syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|207780 +1134 1134|Nose agenesis|<1 / 1 000 000|Not applicable|Neonatal
Antenatal| +1135 1135|-|<1 / 1 000 000|Unknown|Neonatal|603457 +1136 1136|Arnold-Chiari malformation type 2
Chiari malformation type 2
Chiari malformation type II|Unknown|Not applicable|Childhood|207950 +1138 1138|-|-|-|-| +114 114|-|<1 / 1 000 000|Autosomal dominant|Neonatal|109000 +1143 1143|-|Unknown|Autosomal recessive|-|208100 +1144 1144|Distal arthrogryposis type 6|<1 / 1 000 000|Unknown|Neonatal|108200 +1145 1145|SMAX2
SMAX2-related spinal muscular atrophy
Spinal muscular atrophy with arthrogryposis
X-linked infantile spinal muscular atrophy
X-linked spinal muscular atrophy type 2|<1 / 1 000 000|X-linked recessive|Neonatal|301830 +1146 1146|DA1
DA1A
Distal arthrogryposis type 1|1-5 / 10 000|Autosomal dominant|Neonatal|108120 126050 614335 +1147 1147|Distal arthrogryposis type 2B
Freeman-Sheldon syndrome variant|Unknown|Autosomal dominant
or Not applicable|Neonatal|601680 +1149 1149|Kuskokwim disease|<1 / 1 000 000|Autosomal recessive|Neonatal
Childhood|208200 +115 115|Beals syndrome
Beals-Hecht syndrome
CCA syndrome
Distal arthrogryposis type 9|Unknown|Autosomal dominant|Neonatal|121050 +1150 1150|Illum syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|208155 +1154 1154|Distal arthrogryposis type 5
Distal arthrogryposis type IIB
Distal arthrogryposis with ophthalmoplegia
Oculomelic amyoplasia|Unknown|Autosomal dominant
or Autosomal recessive|Neonatal|108145 +1155 1155|-|-|-|-|253900 +1159 1159|Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome|1-9 / 1 000 000|Autosomal recessive|Childhood|208230 +116 116|BWS
Exomphalos-macroglossia-gigantism syndrome
Wiedemann-Beckwith syndrome|1-5 / 10 000|Unknown
or Autosomal dominant|Neonatal
Antenatal|130650 +1160 1160|-|-|-|-|208300 +1163 1163|-|Unknown|Not applicable|All ages|614079 +1164 1164|ABPA
Allergic aspergillosis
Hinson-Pepys disease|Unknown|Not applicable|Childhood|103920 +1166 1166|Isolated asymmetric crying facies|Unknown|Autosomal dominant|Neonatal|125520 +1167 1167|-|-|-|-| +1168 1168|AOA1|Unknown|Autosomal recessive|Childhood|208920 +117 117|-|1-9 / 100 000|Multigenic/multifactorial|Adult
Adolescent
Childhood|109650 +1170 1170|SCAR2|Unknown|Autosomal recessive|Neonatal|213200 +1171 1171|CAPOS syndrome|<1 / 1 000 000|Autosomal dominant
or Mitochondrial inheritance|Infancy
Neonatal|601338 +1172 1172|ARCA|1-9 / 100 000|Autosomal recessive|All ages| +1173 1173|Gordon-Holmes syndrome
Luteinizing hormone-releasing hormone deficiency with ataxia|Unknown|Autosomal recessive|All ages|212840 605672 +1174 1174|-|Unknown|Autosomal recessive|Neonatal|212835 +1175 1175|-|Unknown|X-linked recessive|Childhood|302500 +117569 117569|-|-|-|-| +117573 117573|-|-|-|-| +1177 1177|EOCA
EOCARR
Harding ataxia|1-9 / 100 000|Autosomal recessive|Childhood
Adolescent
Adult|212895 +1178 1178|-|-|Unknown|-|272600 +1179 1179|Ouvrier-Billson syndrome|-|-|-|168885 +118 118|Beta-mannosidase deficiency|Unknown|Autosomal recessive|Infancy
Neonatal
Childhood
Adolescent
Adult|248510 +1180 1180|Boucher-Neuhäuser syndrome|Unknown|Autosomal recessive|Childhood|215470 +1182 1182|-|<1 / 1 000 000|-|Neonatal
Infancy
Childhood
Adolescent|108650 +1183 1183|Ataxo-opso-myoclonus syndrome
Dancing eye syndrome
Dancing eye-dancing feet syndrome
Kinsbourne syndrome
OMA syndrome
OMS
Opsoclonus-myoclonus-ataxia syndrome
POMA syndrome
Paraneoplastic opsoclonus-myoclonus
Paraneoplastic opsoclonus-myoclonus-ataxia syndrome|Unknown|Not applicable|Infancy
Childhood| +1184 1184|Fenton-Wilkinson-Toselano syndrome|<1 / 1 000 000|Unknown|Infancy
Childhood| +1185 1185|-|-|Autosomal recessive|-|271270 +1186 1186|IOSCA
Ohaha syndrome
Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome|<1 / 1 000 000|Autosomal recessive|Infancy|271245 +1187 1187|Arts syndrome|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|301835 +1188 1188|Reardon-Baraitser syndrome|<1 / 1 000 000|X-linked recessive|Childhood|208850 +119 119|Beta-sarcoglycanopathy
LGMD2E
Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency|<1 / 1 000 000|Autosomal recessive|Childhood
Adolescent|604286 +1190 1190|AO1
AOI
Atelosteogenesis type 1
Giant cell chondrodysplasia
Spondylo-humero-femoral dysplasia|<1 / 1 000 000|Autosomal dominant|Neonatal
Antenatal|108720 +1192 1192|Feigenbaum-Bergeron-Richardson syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|209010 +1193 1193|X-linked intellectual disability, Atkin type|<1 / 1 000 000|X-linked dominant|Neonatal|300431 +1194 1194|Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency
Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency
Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency|Unknown|Autosomal recessive|Infancy
Neonatal|614052 +1195 1195|Congenital hypotransferrinemia|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood|209300 +1198 1198|-|-|-|-|303650 +1199 1199|-|1-5 / 10 000|Not applicable|Neonatal|189960 +1200 1200|Burn-McKeown syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|608572 616462 +1201 1201|Apple peel syndrome
Christmas tree syndrome
Intestinal atresia type IIIb
Jejunal atresia
Jejunoileal atresia
Small intestinal atresia|1-5 / 10 000|Autosomal recessive
or Multigenic/multifactorial
or Not applicable|Neonatal|243600 +1202 1202|-|Unknown|Autosomal dominant|All ages|150300 +1203 1203|-|1-9 / 100 000|Autosomal recessive|Antenatal
Neonatal
Infancy
Childhood|223400 +1205 1205|-|-|-|-| +1207 1207|-|-|-|-|178370 +1208 1208|-|-|-|-|265150 +1209 1209|-|1-9 / 100 000|Not applicable|Neonatal
Antenatal|605067 +1214 1214|Hemifacial atrophy
PHA
Parry-Romberg syndrome
Progressive facial hemiatrophy
Romberg syndrome|Unknown|Not applicable|Childhood
Adolescent
Adult|141300 +1215 1215|DOA+
Optic atrophy-deafness-polyneuropathy-myopathy syndrome|1-9 / 1 000 000|Autosomal dominant|Childhood|125250 165199 +1216 1216|Autosomal dominant benign distal spinal muscular atrophy
Congenital benign spinal muscular atrophy with contractures
Congenital nonprogressive spinal muscular atrophy|-|-|Antenatal
Neonatal|600175 +1217 1217|Hamano-Tsukamoto syndrome|-|-|-| +122 122|Fibrofolliculomas with trichodiscomas and acrochordons|1-9 / 1 000 000|Autosomal dominant|Adult|135150 +1221 1221|-|Unknown|Not applicable|Adult|118330 +1223 1223|Balantidiosis
Ciliary dysentery|Unknown|Not applicable|All ages| +1225 1225|-|<1 / 1 000 000|Autosomal recessive|Neonatal|218600 +1226 1226|Athyroidal hypothyroidism-spiky hair-cleft palate syndrome
Bamforth syndrome
Hypothyroidism-cleft palate syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|241850 +1227 1227|Ataxia-diabetes-goiter-gonadal insufficiency syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|210740 +1228 1228|-|<1 / 1 000 000|Autosomal dominant|Neonatal|109300 +1229 1229|BLC-PMG
Baraitser-Brett-Piesowicz syndrome
Baraitser-Reardon syndrome
Bilateral band-like calcification with polymicrogyria
Microcephaly-intracranial calcification-intellectual disability syndrome
Pseudo-TORCH syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|251290 +123 123|Deafness-pili torti-hypogonadism syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|262000 +1231 1231|Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive
or Not applicable|Neonatal|209885 +1234 1234|Autosomal recessive popliteal pterygium syndrome
Lethal popliteal pterygium syndrome|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|263650 +1236 1236|-|-|No data available|-| +1237 1237|Hydrocephalus-cardiac malformation-dense bones syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|209970 +1239 1239|-|Unknown|Autosomal recessive|Infancy|210000 +124 124|Aase syndrome
Aase-Smith II syndrome
Congenital PRCA
Congenital hypoplastic anemia, Blackfan-Diamond type
Congenital pure red cell aplasia|Unknown|Autosomal dominant|Infancy
Neonatal
Childhood|105650 300946 606129 606164 610629 612527 612528 612561 612562 612563 613308 613309 614900 615550 615909 +1240 1240|Bellini syndrome
Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|250215 +1241 1241|Hemifacial hyperplasia-strabismus syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|141350 +1243 1243|BMD
BVMD
Best disease
Best macular dystrophy
Early-onset vitelliform macular dystrophy
Juvenile-onset vitelliform macular dystrophy
Polymorphic vitelline macular degeneration
Vitelliform macular dystrophy type 2|1-9 / 100 000|Autosomal dominant|Childhood
Adolescent|153700 +1246 1246|Biemond syndrome|<1 / 1 000 000|-|-|113400 +1247 1247|Bilharziasis|<1 / 1 000 000|Not applicable|All ages|181460 +1248 1248|Binder syndrome
Maxillonasal dysostosis|Unknown|Autosomal dominant
or Autosomal recessive
or Multigenic/multifactorial|Neonatal|155050 +1249 1249|-|Unknown|Unknown|Adult| +125 125|BSyn|Unknown|Autosomal recessive|Neonatal
Antenatal|210900 +1252 1252|Pashayan syndrome
Pashayan-Prozansky syndrome|<1 / 1 000 000|Autosomal dominant
or X-linked dominant|Childhood|110050 +1253 1253|Blepharochalasis-double lip syndrome|<1 / 1 000 000|Not applicable|Neonatal|109900 +1256 1256|Jorgenson-Lenz syndrome|<1 / 1 000 000|-|Antenatal
Neonatal| +1258 1258|Rodini-Richieri Costa syndrome|-|-|-| +1259 1259|-|<1 / 1 000 000|Autosomal dominant|Childhood|110150 +126 126|Blepharophimosis types 1 and 2|1-9 / 100 000|Autosomal dominant
or Not applicable|Neonatal|110100 +1260 1260|-|-|-|-| +1261 1261|Encephalopathy-intracerebral calcification-retinal degeneration syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|225755 +1262 1262|-|<1 / 1 000 000|Autosomal dominant|Adult|112300 +1263 1263|-|<1 / 1 000 000|Not applicable|Neonatal
Antenatal|112310 +1264 1264|Bork syndrome
Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|191482 +1266 1266|-|<1 / 1 000 000|Autosomal recessive
or X-linked recessive|Infancy
Neonatal|211170 +1267 1267|-|<1 / 1 000 000|-|All ages| +127 127|BFLS
Intellectual deficiency-epilepsy-endocrine disorders syndrome|<1 / 1 000 000|X-linked recessive|Neonatal|301900 +1270 1270|Bowen syndrome, Hutterite type|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|211180 +1272 1272|Brachycephaly-deafness-cataract-intellectual disability syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|601353 +1275 1275|Brachydactyly-joint dysplasia syndrome
Liebenberg syndrome|-|Autosomal dominant|-|186550 +1276 1276|Bilginturan brachydactyly
Bilginturan syndrome
Brachydactyly type E, with short stature and hypertension|<1 / 1 000 000|Autosomal dominant|Neonatal|112410 +1277 1277|Stratton-Garcia-Young syndrome|-|-|-| +1278 1278|-|<1 / 1 000 000|Autosomal dominant|Neonatal|112450 +128 128|Bothriocephalosis|<1 / 1 000 000|Not applicable|All ages| +129 129|-|Unknown|Not applicable|Adult| +1292 1292|BOD syndrome
Senior syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal|113477 +1293 1293|-|Unknown|Autosomal dominant
or Autosomal recessive|Childhood| +1295 1295|-|<1 / 1 000 000|Autosomal dominant|Neonatal|113480 +1296 1296|Branchial dysplasia-intellectual disability-inguinal hernia syndrome|<1 / 1 000 000|-|Neonatal|245550 +1297 1297|BOFS|<1 / 1 000 000|Autosomal dominant
or No data available|Neonatal|113620 +1299 1299|BSG syndrome|<1 / 1 000 000|Autosomal recessive
or X-linked dominant|Neonatal|211380 +13 13|Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency|Unknown|Autosomal recessive|Infancy
Neonatal|261640 +130 130|Bangungut
Dream disease
Idiopathic ventricular fibrillation, Brugada type
Pokkuri death syndrome
SUNDS
Sudden unexplained nocturnal death syndrome|1-5 / 10 000|Autosomal dominant
or Not applicable|Adult|601144 611777 611875 611876 612838 613119 613120 613123 616399 +1300 1300|Facio-genito-popliteal syndrome
Popliteal web syndrome|1-9 / 1 000 000|Autosomal dominant|Neonatal|119500 +1302 1302|Bronchiolitis obliterans organizing pneumonia
COP|Unknown|Not applicable|Adolescent
Adult
Elderly| +1303 1303|BOOP
Constrictive bronchiolitis
Obliterative bronchiolitis|Unknown|Not applicable|All ages| +1304 1304|-|-|-|All ages| +1305 1305|Brunner-Winter syndrome
Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum
FGLDS
FS
MMT
MODED syndrome
Microcephaly-digital anomalies-normal intelligence syndrome
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome
Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome
ODED syndrome
Oculo-digito-esophageal-duodenal syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal|164280 614326 +1306 1306|Disseminated dermatofibrosis with osteopoikilosis|-|Autosomal dominant|All ages|166700 +1307 1307|10q24 microduplication syndrome
Buttiens-Fryns syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|246560 +1308 1308|OTCS
Opitz C trigonocephaly
Opitz trigonocephaly C syndrome
Opitz trigonocephaly syndrome
Trigonocephaly C syndrome|1-9 / 1 000 000|Not applicable
or Unknown|Neonatal
Antenatal|211750 +1309 1309|Cacchi-Ricci disease
MSK
Precalicial canalicular ectasia|-|-|-| +131 131|-|1-9 / 100 000|Multigenic/multifactorial|All ages|600880 +1310 1310|Infantile cortical hyperostosis|Unknown|Autosomal dominant
or Unknown|Infancy
Neonatal
Antenatal
Childhood|114000 +1313 1313|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|215480 +1314 1314|-|<1 / 1 000 000|Not applicable|Neonatal| +1318 1318|-|<1 / 1 000 000|Autosomal recessive|Neonatal|211890 +1319 1319|-|<1 / 1 000 000|Autosomal dominant|Neonatal|114150 +132 132|-|1-9 / 100 000|-|Infancy
Neonatal| +1320 1320|Idiopathic camptocormism
Idiopathic progressive lumbar kyphosis|Unknown|Not applicable|Elderly
Adult| +1321 1321|Goodman camptodactyly|<1 / 1 000 000|Autosomal recessive|Neonatal|211930 +1323 1323|Rozin-Hertz-Goodman syndrome
Rozin-camptodactyly syndrome|<1 / 1 000 000|-|Neonatal|602612 +1325 1325|Familial streblodactyly with amino-aciduria|<1 / 1 000 000|Autosomal dominant|Neonatal| +1326 1326|-|<1 / 1 000 000|Autosomal recessive|Neonatal|211920 +1327 1327|-|<1 / 1 000 000|Autosomal recessive|Neonatal|211910 +1328 1328|Progressive diaphyseal dysplasia|Unknown|Autosomal dominant|All ages|131300 +1329 1329|CAVC
Common atrioventricular canal
Complete atrioventricular septal defect|Unknown|Not applicable|Infancy
Neonatal| +133 133|Berylliosis
Chronic berylliosis
Chronic beryllium lung disease|Unknown|Not applicable|Adult| +1330 1330|PAVC
Partial atrioventricular canal defect|1-5 / 10 000|Not applicable|All ages
Antenatal| +1331 1331|-|-|-|Adult|176807 300147 300704 601518 602759 603688 608656 608658 609299 609558 610321 610997 611100 611868 611928 611955 611958 611959 614731 +1332 1332|MTC|1-9 / 100 000|Not applicable|Adult| +1333 1333|Familial pancreatic cancer|1-9 / 1 000 000|Multigenic/multifactorial|Adult|260350 606856 613347 613348 614320 +1334 1334|CMC|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Childhood|114580 247650 252250 607644 613108 613953 613956 615527 616445 +1335 1335|Cantrell deformity
Cantrell syndrome
Thoraco-abdominal syndrome|<1 / 1 000 000|Not applicable|Neonatal
Antenatal|313850 +1336 1336|-|<1 / 1 000 000|Autosomal dominant|Infancy
Childhood
Adolescent|144190 +1338 1338|Ostravik-Lindemann-Solberg syndrome|<1 / 1 000 000|-|Neonatal|217085 +134 134|3-ketothiolase deficiency
3-oxothiolase deficiency
Alpha methylacetoacetic aciduria
Alpha-methyl-acetoacetyl-CoA thiolase deficiency
Mitochondrial acetoacetyl-coenzyme A thiolase deficiency
T2 deficiency|<1 / 1 000 000|Autosomal recessive|Infancy|203750 +1340 1340|CFC syndrome|Unknown|Autosomal dominant|Antenatal
Neonatal|115150 615278 615279 615280 +1342 1342|Atriodigital dysplasia type 3
Cardiomelic syndrome type 3
Heart-hand syndrome, Spanish type
Heart-limb syndrome type 3|<1 / 1 000 000|-|Neonatal
Infancy|140450 +1344 1344|Atrial cardiomyopathy with heart block|Unknown|Autosomal dominant
or Not applicable|Adult|108770 615745 +1345 1345|Krasnow-Qazi syndrome|<1 / 1 000 000|Autosomal recessive|Adolescent
Adult| +1349 1349|Maternally-inherited cardiomyopathy and deafness
tRNA-LYS-related cardiomyopathy-hearing loss syndrome|<1 / 1 000 000|Mitochondrial inheritance|Childhood
Adult| +135 135|Childhood ataxia with diffuse central nervous system hypomyelination
Leukoencephalopathy with vanishing white matter
Myelinosis centralis diffusa|Unknown|Autosomal recessive|Childhood|603896 615889 +1350 1350|Atriodigital dysplasia type 2
Tabatznik syndrome|<1 / 1 000 000|-|-| +1352 1352|Houlston-Ironton-Temple syndrome|-|-|-|600123 +1354 1354|-|<1 / 1 000 000|Autosomal recessive|Neonatal|212135 +1355 1355|Sonoda syndrome|-|-|-|270460 +1358 1358|Myopathy-Moebius-Robin syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|254940 +1359 1359|Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|160980 605244 +136 136|Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Hereditary multi-infarct dementia|1-9 / 100 000|Autosomal dominant|Adult|125310 +1361 1361|Carnosinase deficiency
Homocarnosinosis|Unknown|Autosomal recessive|Infancy|212200 +1366 1366|Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia
Cataract-alopecia-sclerodactyly syndrome
PPK-CA, Wallis type
Palmoplantar keratoderma and congenital alopecia, Wallis type|<1 / 1 000 000|Autosomal recessive|Neonatal|212360 +1368 1368|-|<1 / 1 000 000|Autosomal recessive|Neonatal|212710 +1369 1369|Sengers syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|212350 615418 +137 137|CDG
Carbohydrate deficient glycoprotein syndrome|Unknown|Autosomal recessive
or X-linked recessive|Infancy
Neonatal| +1373 1373|Wellesley-Carman-French syndrome|-|-|-|115645 +1375 1375|CAHMR syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|211770 +137577 137577|HIE
Hypoxic and ischemic brain injury in the newborn
Hypoxic-ischemic encephalopathy
Perinatal asphyxia
Perinatal hypoxia|1-9 / 100 000|Not applicable|Infancy
Neonatal| +137583 137583|Vulvar intraepithelial tumor|-|-|-| +137586 137586|HSV keratitis
Herpetic keratitis|Unknown|Not applicable|All ages| +137593 137593|-|-|-|-| +137596 137596|Neurotrophic keratitis|Unknown|-|Childhood
Adult| +137599 137599|-|1-5 / 10 000|-|-| +1376 1376|-|-|-|-|212400 +137602 137602|-|-|-|-| +137605 137605|NF1-like syndrome
Neurofibromatosis 1-like syndrome|Unknown|Autosomal dominant|Infancy
Neonatal
Childhood|611431 +137608 137608|SOLAMEN syndrome|-|-|-| +137617 137617|Nephrogenic fibrosing dermopathy|-|-|-| +137622 137622|-|<1 / 1 000 000|-|Infancy
Neonatal| +137625 137625|GSD due to muscle and heart glycogen synthase deficiency
GSD type 0b
Glycogen storage disease type 0b
Glycogenosis due to muscle and heart glycogen synthase deficiency
Glycogenosis type 0b|<1 / 1 000 000|Autosomal recessive|Childhood|611556 +137628 137628|-|<1 / 1 000 000|Autosomal dominant|-| +137631 137631|-|<1 / 1 000 000|-|-|611926 +137634 137634|RNF135-related overgrowth syndrome|<1 / 1 000 000|Autosomal dominant|-|614192 +137639 137639|Ataxia-delayed dentition-hypomyelination syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|607694 +137653 137653|Kelly-Kirson-Wyatt syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +137658 137658|Woods-Crouchman-Huson syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615236 +137667 137667|CM-AVM|Unknown|Autosomal dominant
or Not applicable|Infancy
Neonatal|608354 +137672 137672|-|-|-|-| +137675 137675|Foamy myocardial transformation of infancy
Infantile cardiomyopathy with histiocytoid change
Infantile xanthomatous cardiomyopathy
Oncocytic cardiomyopathy|<1 / 1 000 000|Unknown|Infancy
Neonatal|212080 500000 +137678 137678|-|<1 / 1 000 000|Autosomal dominant|Childhood|609162 +137681 137681|Hepatoencephalopathy due to COXPD1|-|Autosomal recessive|-|609060 +137686 137686|Intrauterine adhesions
Intrauterine synechiae|-|-|-| +137698 137698|CMV disease in patients with impaired cell mediated immunity deemed at risk|1-5 / 10 000|-|-| +1377 1377|-|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Neonatal|115700 116200 601547 604219 +137754 137754|ACY1D
N-acyl-L-amino acid amidohydrolase deficiency|<1 / 1 000 000|Autosomal recessive|Childhood|609924 +137776 137776|LCCS2
Multiple contracture syndrome, Israeli-Bedouin type|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|607598 +137783 137783|LCCS3|-|Autosomal recessive|-|611369 614915 +137807 137807|PLCA
Primary localized cutaneous amyloidosis|Unknown|Autosomal dominant
or Not applicable|All ages| +137810 137810|PLCNA
Primary localized cutaneous nodular amyloidosis|-|-|-| +137814 137814|-|-|-|-| +137817 137817|Adhesive arachnoiditis
Chronic arachnoiditis|Unknown|Not applicable|All ages|182950 +137820 137820|-|-|-|-| +137831 137831|OPHN1 syndrome
Oligophrenin-1 syndrome|<1 / 1 000 000|X-linked dominant|Infancy
Neonatal|300486 +137834 137834|Ter Haar syndrome|<1 / 1 000 000|Autosomal recessive|-|249420 +137839 137839|Lemierre postanginal sepsis
Postanginal sepsis secondary to orophyngeal infection
Septic phlebitis of the internal jugular vein|Unknown|-|Adolescent| +137867 137867|MMND|<1 / 1 000 000|X-linked recessive
or Not applicable|Adolescent
Childhood
Adult| +137871 137871|Laminopathy with severe metabolic syndrome and myopathy|<1 / 1 000 000|Autosomal dominant|-| +137888 137888|Question mark ear syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|602483 612798 614669 615706 +137893 137893|-|-|Autosomal recessive|-|243060 +137898 137898|LBSL
Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|611105 +137902 137902|-|-|Autosomal dominant|-|165550 +137905 137905|-|-|-|-| +137908 137908|COXPD5
Combined oxidative phosphorylation defect type 5|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|611719 +137911 137911|-|<1 / 1 000 000|-|Infancy
Neonatal| +137914 137914|-|1-9 / 100 000|Not applicable|Childhood
Infancy
Neonatal|608911 +137917 137917|-|1-9 / 100 000|Not applicable|Infancy
Neonatal| +137920 137920|-|Unknown|Not applicable|Infancy
Neonatal| +137926 137926|-|-|-|-| +137929 137929|-|-|-|-| +137932 137932|Congenital vocal cord paralysis|-|-|-| +137935 137935|-|-|-|-| +138 138|CHARGE association
Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
Hall-Hittner syndrome|Unknown|Autosomal dominant
or Unknown|Neonatal|214800 +1380 1380|Crome syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|218900 +138041 138041|Pierre Robin sequence associated with collagen disease|-|-|-| +138044 138044|-|Unknown|-|-| +138047 138047|Pierre Robin sequence associated with a chromosomal anomaly|-|-|-| +138050 138050|Pierre Robin sequence associated with branchial archs anomalies|-|-|-| +138055 138055|Pierre Robin sequence associated with bone disease|-|-|-| +138059 138059|Teratogenic Pierre Robin sequence|-|-|-| +138069 138069|Sucking/swallowing disorder not related with Pierre Robin sequence|-|-|-| +138072 138072|-|-|-|-| +138076 138076|-|-|-|-| +138080 138080|-|-|-|-| +138084 138084|-|-|-|-| +138095 138095|-|-|-|-| +1381 1381|Karandikar-Maria-Kamble syndrome|-|-|-| +138101 138101|-|-|-|-| +138104 138104|-|-|-|-| +138109 138109|-|-|-|-| +138112 138112|-|-|-|-| +138115 138115|-|-|-|-| +138118 138118|-|-|-|-| +138221 138221|-|-|-|-| +1383 1383|Schaap-Taylor-Baraitser syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +1387 1387|Martsolf syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|212720 +1388 1388|Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
Index finger anomaly-Pierre Robin syndrome
Micrognathia digital syndrome
Palatodigital syndrome, Catel-Manzke type
Pierre Robin sequence-hyperphalangy-clinodactyly syndrome
Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|302380 616145 +1389 1389|-|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|218010 +139 139|CHILD nevus
Congenital hemidysplasia with ichthyosiform nevus and limbs defects|<1 / 1 000 000|X-linked dominant
or Not applicable|Infancy
Neonatal|308050 +1390 1390|Hunter-Thompson-Reed syndrome|-|-|-| +139009 139009|-|-|-|-| +139012 139012|Rare skeletal development disorder|-|-|-| +139021 139021|-|-|-|-| +139024 139024|-|-|-|-| +139027 139027|-|-|-|-| +139030 139030|-|-|-|-| +139033 139033|-|-|-|-| +139036 139036|-|-|-|-| +139039 139039|-|-|-|-| +139042 139042|-|-|-|-| +1393 1393|-|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive
or Not applicable|All ages|117650 +139390 139390|-|-|-|Neonatal
Infancy| +139393 139393|-|-|-|-| +139396 139396|-|<1 / 1 000 000|X-linked recessive|All ages|300100 +139399 139399|-|-|X-linked recessive|Adult|300100 +1394 1394|Pascual-Castroviejo syndrome type 1|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|213980 +139402 139402|DRESS syndrome
Drug reaction eosinophilic systemic syndrome|Unknown|Not applicable|All ages| +139406 139406|Combined prosaposin deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|611721 +139411 139411|-|<1 / 1 000 000|-|Adolescent
Adult|604287 +139414 139414|-|<1 / 1 000 000|-|Infancy
Neonatal| +139417 139417|-|Unknown|-|-| +139420 139420|Disease-associated transverse myelitis|Unknown|Not applicable|All ages| +139423 139423|ATM/TM|Unknown|Not applicable|All ages| +139426 139426|POMA|<1 / 1 000 000|-|Childhood| +139431 139431|EMEA
Eyelid myoclonia with and without absences|Unknown|Unknown|Childhood| +139436 139436|Giant cell histiocytomatosis
Lipoid dermatoarthritis|Unknown|Not applicable|Adult| +139441 139441|H-ABC|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|612438 +139444 139444|-|<1 / 1 000 000|Unknown|Infancy
Neonatal| +139447 139447|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +139450 139450|Balikova-Vermeesch syndrome|<1 / 1 000 000|Autosomal dominant|No data available|611863 +139455 139455|Retinopathy, Burgess-Black type|<1 / 1 000 000|Autosomal recessive|All ages|611809 +139466 139466|Sex reversion-kidneys, adrenal and lung dysgenesis syndrome|<1 / 1 000 000|Autosomal recessive|Antenatal|611812 +139471 139471|Bakrania-Ragge syndrome
MCOPS6
Syndromic microphthalmia type 6|<1 / 1 000 000|-|-|607932 +139474 139474|Dup(17)(q11.2)
Grisart-Destrée syndrome
Trisomy 17q11.2|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|613675 +139480 139480|SPG39
Spastic paraplegia due to NTE mutation
Spastic paraplegia due to neuropathy target esterase mutation|<1 / 1 000 000|Autosomal recessive|Childhood|612020 +139485 139485|ARCA2
Autosomal recessive ataxia due to coenzyme Q10 deficiency
Autosomal recessive cerebellar ataxia type 2
Autosomal recessive spinocerebellar ataxia type 9
SCAR9|<1 / 1 000 000|Autosomal recessive|Childhood|612016 +139491 139491|Autosomal dominant hereditary hemochromatosis
Ferroportin disease
Hemochromatosis due to defect in ferroportin|<1 / 1 000 000|Autosomal dominant|All ages|606069 +139507 139507|Bantu siderosis|-|-|-|601195 +139512 139512|-|<1 / 1 000 000|Autosomal dominant|Adult| +139515 139515|CMT4J|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|611228 +139518 139518|Autosomal dominant distal juvenile spinal muscular atrophy type 1
dHMN1|-|Autosomal dominant|Adolescent
Adult
Childhood|182960 +139525 139525|Distal spinal muscular atrophy type 2
dHMN2
dSMA2|<1 / 1 000 000|Autosomal dominant|Adolescent
Adult|158590 608634 613376 615575 +139536 139536|Distal spinal muscular atrophy type 5
dHMN5|-|Autosomal dominant|Adolescent
Childhood
Adult|600794 614751 +139547 139547|Autosomal recessive distal spinal muscular atrophy type 3
Distal hereditary motor neuropathy type 3 and type 4
dHMN3 and dHMN4
dSMA3|-|Autosomal recessive|Childhood|607088 +139552 139552|Autosomal recessive distal spinal muscular atrophy type 2
dHMNJ|<1 / 1 000 000|Autosomal recessive|Childhood|605726 +139557 139557|SMAX3-related distal spinal muscular atrophy
X-linked dHMN type 3
X-linked dSMA type 3
X-linked distal hereditary motor neuropathy type 3|-|X-linked recessive|Childhood|300489 +139564 139564|HSAN with cough and gastroesophageal reflux
HSAN1B
Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux|<1 / 1 000 000|Autosomal dominant|Adult|608088 +139573 139573|HSAN with deafness and global delay|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +139578 139578|HSAN with spastic paraplegia|<1 / 1 000 000|Autosomal recessive|Childhood|256840 +139583 139583|X-linked HSAN with deafness
X-linked auditory neuropathy with peripheral sensory neuropathy type 1|<1 / 1 000 000|X-linked recessive|Childhood|300614 +139589 139589|Distal spinal muscular atrophy with vocal cord paralysis
dHMN7|-|Autosomal dominant|Childhood
Adolescent
Adult|158580 607641 +1396 1396|-|-|-|-|609345 +1397 1397|-|Unknown|X-linked recessive|Infancy|307010 +1398 1398|-|Unknown|-|Childhood| +1399 1399|Ketoaciduria-intellectual disability-ataxia-deafness syndrome|Unknown|Autosomal recessive|Infancy|245100 +14 14|Bassen-Kornzweig disease
Homozygous familial hypobetalipoproteinemia|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|200100 +140 140|Campomelic dwarfism|<1 / 1 000 000|Autosomal dominant|Neonatal
Antenatal|114290 211990 602196 +140162 140162|-|-|-|-| +140286 140286|-|-|-|-| +140428 140428|-|-|-|-| +140432 140432|-|-|-|-| +140436 140436|Intraosseous hemangioma
Osseous venous malformation|-|Autosomal recessive|-|606893 +140450 140450|-|-|-|-| +140453 140453|-|-|-|-| +140456 140456|-|-|-|-| +140459 140459|-|-|-|-| +140462 140462|-|-|-|-| +140465 140465|Autosomal dominant dHMN
Autosomal dominant distal spinal muscular atrophy|-|-|-| +140468 140468|Autosomal recessive dHMN
Autosomal recessive dSMA
Autosomal recessive distal spinal muscular atrophy|-|-|-| +140471 140471|-|-|-|-| +140474 140474|-|-|-|-| +140477 140477|-|-|-|-| +140481 140481|-|<1 / 1 000 000|Autosomal dominant|Adult|608236 +140500 140500|-|-|-|-| +140503 140503|-|-|-|-| +1406 1406|-|Unknown|Not applicable|Neonatal| +140653 140653|-|-|-|-| +1408 1408|Calderón-González-Cantu syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|234030 +140874 140874|JSRD|Unknown|Autosomal recessive
or X-linked recessive|Infancy
Neonatal| +140896 140896|-|Unknown|-|All ages| +1409 1409|Salamon syndrome
Wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|278200 +140905 140905|-|-|-|-|614025 +140908 140908|-|-|Autosomal dominant|-|611377 +140917 140917|Teunissen-Cremers syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|184460 +140922 140922|LGMD2J|<1 / 1 000 000|-|Childhood
Adolescent
Adult|608807 +140927 140927|BFNIS
Benign neonatal-infantile epilepsy|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|607745 +140933 140933|-|<1 / 1 000 000|-|Childhood| +140936 140936|Ectodermal dysplasia-acanthosis nigricans syndrome|<1 / 1 000 000|Autosomal recessive|-|608290 +140941 140941|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615961 +140944 140944|Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome|<1 / 1 000 000|Not applicable|Infancy
Neonatal|612918 +140949 140949|-|1-9 / 100 000|-|-| +140952 140952|STAR syndrome|<1 / 1 000 000|X-linked dominant|Infancy
Neonatal|300707 +140957 140957|-|<1 / 1 000 000|Autosomal dominant|-|187800 613112 615193 +140963 140963|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|612290 +140966 140966|PPK, Nagashima type
Palmoplantar hyperkeratosis, Nagashima type|<1 / 1 000 000|Autosomal recessive|-|615598 +140969 140969|Conorenal syndrome
Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome|<1 / 1 000 000|Autosomal recessive|-|266920 615630 +140976 140976|Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome|<1 / 1 000 000|Autosomal recessive|-|602152 +140989 140989|Isolated angiitis of the central nervous system
PACNS
PCNSV
Primary angiitis of the central nervous system
Primary vasculitis of the central nervous system|Unknown|Not applicable|All ages| +140997 140997|OFD
Oral-facial-digital syndrome|-|-|-| +141 141|ACY2 deficiency
Aminoacylase 2 deficiency
Aspartoacylase deficiency
Spongy degeneration of the brain|Unknown|Autosomal recessive|Infancy
Neonatal
Childhood|271900 +1410 1410|Pili trianguli et canaliculi|Unknown|Autosomal dominant|Childhood|191480 +141000 141000|OFD11
Oral-facial-digital syndrome type 11
Oral-facial-digital syndrome, Gabrielli type
Orofaciodigital syndrome, Gabrielli type|<1 / 1 000 000|Not applicable|Neonatal|612913 +141007 141007|OFD9
Oral-facial-digital syndrome type 9
Oral-facial-digital syndrome with retinal abnormalities
Orofaciodigital syndrome with retinal abnormalities|<1 / 1 000 000|Autosomal recessive|-|258865 +141013 141013|First branchial cleft cyst
First branchial cleft fistula|-|-|-| +141022 141022|Second branchial cleft cyst
Second branchial cleft fistula|-|-|-|113600 +141030 141030|Third branchial cleft cyst
Third branchial cleft fistula|-|-|-| +141037 141037|Fourth branchial cleft cyst
Fourth branchial cleft fistula|-|-|-| +141046 141046|Dermoid cyst of the neck|-|-|-| +141051 141051|Dermoid cyst of the face|-|-|-| +141061 141061|-|-|-|-| +141064 141064|-|-|-|-| +141067 141067|Cervicofacial enchondroma|-|-|-| +141071 141071|Enteric duplication cyst of the tongue
Foregut duplication cyst of the tongue
Gastric duplication cyst of the tongue|-|-|-| +141074 141074|External auditory canal stenosis/atresia|-|-|-|108760 607842 +141077 141077|Oropharyngeal teratoma|-|Not applicable|-| +141083 141083|Dacryocele
Dacryocystocele
Nasolacrimal mucocele|Unknown|Not applicable|Neonatal
Infancy
Adult| +141091 141091|Double nose
Polyrhinia|Unknown|Not applicable|Neonatal
Antenatal| +141096 141096|Accessory nostril|<1 / 1 000 000|Not applicable|Neonatal
Antenatal| +141099 141099|Congenital tubular nose|Unknown|Not applicable|Infancy
Neonatal
Antenatal| +141103 141103|Nasal dermoid sinus cyst|-|-|-|600679 +141107 141107|Teratoma of the nasopharynx|-|-|-| +141112 141112|Nasal glioma|-|Not applicable|-| +141115 141115|-|-|-|-| +141118 141118|-|-|Unknown|-| +141121 141121|-|-|-|-| +141124 141124|-|-|-|-| +141127 141127|-|-|-|-|603569 +141132 141132|OAV spectrum
Unilateral or bilateral and asymmetric otomandibular dysplasia|-|-|-| +141136 141136|First branchial arch syndrome
Laterofacial microsomia
Otomandibular dysostosis
Otomandibular syndrome|-|-|-| +141145 141145|-|-|-|-|133900 +141148 141148|-|-|-|-|606773 +141152 141152|-|Unknown|-|-|612776 +141163 141163|Cosack syndrome|<1 / 1 000 000|Not applicable|Infancy
Neonatal| +141168 141168|-|-|-|-| +141171 141171|-|-|-|-| +141174 141174|-|-|-|-| +141179 141179|NICH|Unknown|Not applicable|Infancy
Neonatal| +141184 141184|RICH|Unknown|Not applicable|Infancy
Neonatal| +141189 141189|CAMS|-|-|-| +141194 141194|CAMS1|-|-|-| +141199 141199|CAMS3|-|-|-| +1412 1412|-|<1 / 1 000 000|Autosomal dominant|Neonatal|186400 186570 +141209 141209|Diffuse lymphangioma
Diffuse lymphangiomatosis
Disseminated lymphangioma
Disseminated lymphangiomatosis
Disseminated lymphatic malformation
GLA
Generalized lymphatic anomaly|-|Not applicable|Infancy
Neonatal| +141214 141214|Isolated congenital maxillomandibular fusion|-|-|-| +141219 141219|-|-|-|-| +141229 141229|Craniofacial cleft|-|-|-| +141234 141234|Midline facial cleft
Tessier number 0-14 and 30 facial cleft|-|-|Antenatal
Neonatal| +141239 141239|-|-|-|-| +141242 141242|Cleft nose
Tessier number 1 cleft|-|-|Antenatal
Neonatal| +141253 141253|Orbitofacial cleft|1-9 / 1 000 000|-|Infancy
Neonatal| +141258 141258|-|<1 / 1 000 000|-|Antenatal
Neonatal|600251 +141261 141261|-|-|-|Antenatal
Neonatal| +141265 141265|-|-|-|Antenatal
Neonatal| +141269 141269|Tessier number 7 facial cleft
Transverse facial cleft|-|-|Antenatal
Neonatal| +141276 141276|Macrostomia|-|Autosomal dominant|Antenatal
Neonatal|613545 +141288 141288|-|-|Not applicable|-| +141291 141291|-|6-9 / 10 000|Multigenic/multifactorial|Infancy
Neonatal|119530 129400 225060 600757 602966 608371 608874 610361 612858 +141327 141327|OFD12
Oral-facial-digital syndrome type 12|-|-|-| +141330 141330|OFD13
Oral-facial-digital syndrome type 13|-|-|-| +141333 141333|Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome|<1 / 1 000 000|Unknown|Antenatal
Neonatal|210350 +1414 1414|Aagenaes syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|214900 +1415 1415|Hardikar syndrome|<1 / 1 000 000|Not applicable|Neonatal|612726 +1416 1416|Calcium pyrophosphate dihydrate crystal deposition disease
Familial CC
Familial CPPD
Familial articular chondrocalcinosis
Hereditary CC
Hereditary articular chondrocalcinosis
Hereditary calcium pyrophosphate deposition|Unknown|Autosomal dominant
or Not applicable|Adult|118600 600668 +142 142|-|1-9 / 1 000 000|Not applicable|Adult| +1420 1420|Moerman-Vandenberghe-Fryns syndrome|-|-|-| +1421 1421|-|<1 / 1 000 000|-|Antenatal|601376 +1422 1422|Chondrodysplasia-pseudohermaphroditism syndrome
Nivelon-Nivelon-Mabille syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|600092 +1423 1423|Maroteaux-Stanescu-Cousin syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +1425 1425|Desbuquois dysplasia|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|251450 300881 615777 +1426 1426|HEM dysplasia
Hydrops-ectopic calcification-motheaten syndrome
Skeletal dysplasia, Greenberg type|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|215140 +1427 1427|OSMED|<1 / 1 000 000|Autosomal recessive|Neonatal|215150 +1428 1428|-|<1 / 1 000 000|Y-linked|Adolescent|168900 +1429 1429|Hereditary benign chorea|-|Autosomal dominant|Infancy
Childhood|118700 215450 +143 143|-|1-9 / 1 000 000|-|Adult|608266 +1431 1431|Paroxysmal choreoathetosis
Paroxysmal dystonic choreoathetosis|Unknown|Autosomal dominant
or Not applicable|Childhood| +1433 1433|Moloney syndrome
Regional choroidal atrophy and alopecia|<1 / 1 000 000|Unknown|Neonatal| +1434 1434|-|-|-|-| +1435 1435|Ayazi syndrome|<1 / 1 000 000|X-linked recessive|Childhood|303110 +1436 1436|Christian syndrome|<1 / 1 000 000|X-linked recessive|Neonatal|309620 +1437 1437|-|<1 / 1 000 000|-|Neonatal| +1438 1438|-|<1 / 1 000 000|Not applicable
or Unknown|Neonatal
Antenatal| +1439 1439|-|-|-|-| +144 144|-|Unknown|Autosomal dominant|Adult|120435 609310 613244 614331 614337 614350 614385 +1440 1440|-|<1 / 1 000 000|Not applicable
or Unknown|Childhood|616606 +1441 1441|-|<1 / 1 000 000|Not applicable
or Unknown|Childhood| +1442 1442|-|<1 / 1 000 000|-|Infancy
Neonatal
Antenatal| +1443 1443|-|-|-|-| +1444 1444|-|<1 / 1 000 000|Not applicable
or Unknown|Childhood| +1445 1445|-|-|-|-| +1446 1446|-|-|-|-| +1447 1447|-|-|-|-| +1448 1448|-|-|-|-| +1449 1449|-|-|-|-| +145 145|-|1-5 / 10 000|Autosomal dominant|All ages|604370 612555 613399 614291 +1450 1450|Ring chromosome 8
Supernumerary ring/marker 8|-|-|-| +1451 1451|Chronic infantile neurological cutaneous articular syndrome
IOMID syndrome
Infantile-onset multisystem inflammatory disease
NOMID syndrome
Neonatal-onset multisystem inflammatory disease
Prieur-Griscelli syndrome|Unknown|Autosomal dominant
or Not applicable|Infancy
Neonatal|607115 +1452 1452|Cleidocranial dysostosis|1-9 / 1 000 000|Autosomal dominant
or Not applicable|Neonatal|119600 216330 +1453 1453|Rhizomelic shortness with clavicular defect
Wallis-Zieff-Goldblatt syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal|119650 +1454 1454|COACH syndrome
Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
Gentile syndrome
JS-H
Joubert syndrome with congenital hepatic fibrosis|<1 / 1 000 000|Autosomal recessive|Neonatal|216360 +1455 1455|-|Unknown|Autosomal dominant|Childhood| +1456 1456|Coarctation of the abdominal aorta
Mid-aortic dysplastic syndrome
Mid-aortic syndrome
Midaortic syndrome
Middle aortic syndrome|<1 / 1 000 000|Not applicable|Childhood| +1457 1457|-|Unknown|-|Infancy
Neonatal|120000 +1458 1458|Cerebro-oculo-dento-auriculo-skeletal syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|600373 +1459 1459|CEC|<1 / 1 000 000|Not applicable|Childhood|226810 +146 146|Papillary or follicular thyroid carcinoma
Well-differentiated thyroid carcinoma|Unknown|Not applicable|Adult|188550 607464 +1460 1460|Isolated coenzyme Q-cytochrome C reductase deficiency
Isolated mitochondrial respiratory chain complex III deficiency
Isolated ubiquinone-cytochrome C reductase deficiency|-|Autosomal recessive
or Mitochondrial inheritance|-|124000 615157 615158 615159 615160 615453 615824 615838 616111 +1461 1461|Criss-cross atrioventricular relationships
Superoinferior ventricles
Twisted atrioventricular connections|Unknown|Unknown|Infancy
Neonatal| +1463 1463|Cor triatriatum|-|-|-| +1464 1464|Double inlet left ventricle|-|-|-| +1465 1465|CSS|<1 / 1 000 000|Autosomal dominant|Neonatal|135900 614607 614608 614609 615866 616938 +1466 1466|Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|214150 278780 610756 610758 616570 +1467 1467|-|Unknown|Not applicable|Childhood
Adolescent
Adult
Elderly| +147 147|CPS1 deficiency
CPS1D
Carbamoyl-phosphate synthetase I deficiency
Carbamoyl-phosphate synthetase deficiency|1-9 / 1 000 000|Autosomal recessive|Neonatal
All ages|237300 +1471 1471|Sorsby syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal
Antenatal|120400 +1473 1473|-|<1 / 1 000 000|Autosomal dominant|Neonatal|120433 +1475 1475|Coloboma of optic nerve with renal disease
Papillo-renal syndrome|Unknown|Autosomal dominant|Childhood|120330 +1478 1478|ASD
Atrial septal defect
Interauricular communication|1-9 / 100 000|-|Childhood|108800 607941 611363 612794 613087 614089 614433 614475 +1479 1479|-|<1 / 1 000 000|Autosomal dominant|No data available|108900 +148 148|MCD|Unknown|Autosomal recessive|Infancy
Neonatal| +1480 1480|Interventricular communication
VSD|-|-|-|614429 614431 614432 +1482 1482|-|-|-|-| +1484 1484|Ladda-Zonana-Ramer syndrome|<1 / 1 000 000|Autosomal recessive
or X-linked recessive|Neonatal|301815 +1485 1485|Johnston-Aarons-Schelley syndrome|<1 / 1 000 000|Unknown|Neonatal|208158 +1486 1486|Herva disease
LCCS1
Multiple contracture syndrome, Finnish type|-|Autosomal recessive|Neonatal
Antenatal|253310 +1487 1487|Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome
ODP|<1 / 1 000 000|Autosomal dominant|Neonatal|106995 +1488 1488|Aural atresia-multiple congenital anomalies-intellectual disability syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|209770 +1489 1489|Pertussis|-|-|All ages| +1490 1490|CDPD
Corneal dystrophy with progressive deafness
Harboyan syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|217400 +1492 1492|Ben Ari-Shuper-Mimouni syndrome|-|-|-| +1493 1493|Absent corpus callosum-cataract-immunodeficiency syndrome
Dionisi-Vici-Sabetta-Gambarara syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|242840 +1495 1495|Da Silva syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal| +1496 1496|Andermann syndrome
Charlevoix disease|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|218000 +1497 1497|-|<1 / 1 000 000|X-linked recessive|Neonatal
Antenatal|304100 +15 15|-|1-9 / 100 000|Autosomal dominant|Neonatal|100800 +150 150|-|1-9 / 100 000|Multigenic/multifactorial
or Not applicable|All ages|161550 607107 617075 +1501 1501|-|1-9 / 1 000 000|Not applicable|Childhood|202300 +1505 1505|-|Unknown|Autosomal recessive|Neonatal
Antenatal| +1506 1506|Sharma-Kapoor-Ramji syndrome|-|-|-| +1507 1507|COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|268310 +1508 1508|-|<1 / 1 000 000|Unknown|Neonatal|122780 +1509 1509|Ischiopatellar dysplasia
SPS
Scott-Taor syndrome
Small patella syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|147891 +1512 1512|-|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|218090 +1513 1513|-|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive
or Not applicable|Childhood|122860 218300 +1514 1514|Scott craniodigital syndrome
Scott-Bryant-Graham syndrome|<1 / 1 000 000|Autosomal recessive
or X-linked recessive|Neonatal|312860 +1515 1515|CED
Sensenbrenner syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|218330 613610 614099 614378 +1516 1516|-|<1 / 1 000 000|Autosomal recessive|Neonatal|218350 +1517 1517|-|<1 / 1 000 000|Autosomal dominant
or Not applicable|Neonatal|239850 +1519 1519|Brachycephalofrontonasal dysplasia
Craniofrontonasal dysplasia, Teebi type
Teebi hypertelorism syndrome
Teebi syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal|145420 +1520 1520|CFND
CFNS
Craniofrontonasal syndrome|Unknown|X-linked dominant|Neonatal|304110 +1521 1521|Webster-Deming syndrome|<1 / 1 000 000|Unknown|Neonatal| +1522 1522|-|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Childhood|123000 218400 +1524 1524|-|<1 / 1 000 000|-|Infancy
Neonatal|602558 +1525 1525|Currarino disease
Currarino idiopathic osteoarthropathy
Reginato-Schiapachasse syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|259100 +1527 1527|-|<1 / 1 000 000|Autosomal dominant|Neonatal|185900 +1528 1528|-|<1 / 1 000 000|-|Neonatal|218670 +1529 1529|CDHS
Sommer-Young-Wee-Frye syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal|122880 +1530 1530|-|-|-|-| +1531 1531|-|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive
or Not applicable
or Unknown|Infancy
Neonatal| +1532 1532|Cerebellotrigeminal-dermal dysplasia syndrome
Craniosynostosis-alopecia-brain defect syndrome|<1 / 1 000 000|Not applicable|Neonatal|601853 +1533 1533|Lowry syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|218550 +1535 1535|Glass-Chapman-Hockley syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal| +1538 1538|Braddock-Jones-Superneau syndrome|<1 / 1 000 000|Autosomal dominant|Infancy|123155 +154 154|Familial or idiopathic dilated cardiomyopathy|1-5 / 10 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive
or Mitochondrial inheritance|All ages|302045 600884 601154 601493 601494 604145 604288 604765 605582 606685 607482 608569 609909 609915 611407 611615 611878 611879 611880 612158 612877 613122 613172 613252 613286 613424 613426 613642 613694 613697 613740 613881 614672 615184 615235 615248 615373 615396 615916 +1540 1540|Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
JWS|<1 / 1 000 000|Autosomal dominant|Neonatal|123150 +1541 1541|Craniosynostosis, Warman type
Warman-Mulliken-Hayward syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|604757 +1544 1544|Adolescent benign focal crisis|-|-|-| +1545 1545|-|<1 / 1 000 000|Autosomal recessive|Neonatal|601378 +1546 1546|-|Unknown|Not applicable|All ages| +1547 1547|Cryptomicrotia-brachydactyly syndrome
Tonoki-Ohura-Niikawa syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal|123560 +1548 1548|Van Benthem-Driessen-Hanveld syndrome|-|-|-| +1549 1549|-|Unknown|Not applicable|All ages| +1551 1551|-|-|-|-|121270 +1552 1552|Currarino syndrome|1-9 / 100 000|Autosomal dominant
or Not applicable|All ages|176450 +1553 1553|Corpus callosum agenesis-polysyndactyly syndrome|<1 / 1 000 000|Not applicable|Neonatal|601707 +1555 1555|Beare-Stevenson cutis gyrata syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal|123790 +1556 1556|CMTC|Unknown|Not applicable|Neonatal|219250 +155832 155832|-|-|-|-| +155835 155835|-|-|-|-| +155838 155838|-|-|-|-| +155867 155867|Tessier number 1-1 and 2-12 facial cleft|-|-|Antenatal
Neonatal| +155878 155878|-|-|-|-| +155884 155884|Superior palpebral coloboma|-|-|-| +155889 155889|Inferior palpebral coloboma|-|-|-| +155896 155896|-|-|-|-| +155899 155899|Bilateral and symmetric oto-mandibular dysplasia|-|-|-| +156 156|CPT1A deficiency
Carnitine palmitoyl transferase IA deficiency
Hepatic carnitine palmitoyl transferase 1 deficiency
Hepatic carnitine palmitoyl transferase I deficiency
L-CPT1 deficiency
L-CPTI deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|255120 +1560 1560|-|Unknown|Not applicable|All ages| +156005 156005|-|-|-|-| +156071 156071|-|-|-|-| +1561 1561|Fatal infantile COX deficiency
Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency|-|-|Infancy
Neonatal|604377 615119 616500 616501 +156140 156140|-|-|-|-| +156143 156143|-|-|-|-| +156146 156146|-|-|-|-| +156149 156149|-|-|-|-| +156152 156152|AAV
ANCA-associated vasculitis
Antineutrophil cytoplasmic antibody-associated vasculitis|1-5 / 10 000|-|-| +156156 156156|-|-|-|-| +156159 156159|Pure dystonia|-|-|-| +156162 156162|-|-|-|-| +156165 156165|-|-|-|-| +156168 156168|Retinal ciliopathy due to mutation in RP1 gene|-|-|-| +156171 156171|-|-|-|-| +156174 156174|-|-|-|-| +156177 156177|-|-|-|-| +156180 156180|-|-|-|-| +156183 156183|-|-|-|-| +1562 1562|Gunal-Seber-Basaran syndrome|<1 / 1 000 000|Autosomal dominant|No data available|166705 +156202 156202|-|-|-|-| +156207 156207|-|-|-|-| +156212 156212|-|-|-|-| +156215 156215|-|-|-|-| +156224 156224|-|-|-|-| +156230 156230|-|-|-|-| +156237 156237|-|-|-|-| +156243 156243|-|-|-|-| +156246 156246|-|-|-|-| +156249 156249|-|-|-|-| +156252 156252|-|-|-|-| +1563 1563|Dahlberg syndrome
Lymphedema-hypoparathyroidism syndrome syndrome|<1 / 1 000 000|Autosomal recessive
or X-linked recessive|Childhood|247410 +156532 156532|-|-|-|-| +1566 1566|DWM with postaxial polydactyly
Pierquin syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|220220 +156601 156601|-|-|-|-| +156604 156604|-|-|-|-| +156607 156607|-|-|-|-| +156610 156610|-|-|-|-| +156619 156619|-|-|-|-| +156622 156622|-|-|-|-| +156629 156629|-|-|-|-| +156638 156638|-|-|-|-| +156643 156643|-|-|-|-| +156728 156728|SEMD, MATN3-related
SEMD, matrilin-3 type|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|608728 +156731 156731|-|-|-|Antenatal
Neonatal|224400 +1568 1568|-|<1 / 1 000 000|X-linked recessive|Neonatal
Antenatal|304340 +157 157|CPT2
CPTII
Carnitine palmitoyltransferase deficiency type 2|1-9 / 100 000|Autosomal recessive|All ages|255110 600649 608836 +1570 1570|De Smet-Fabry-Fryns syndrome|-|-|-| +1571 1571|Knobloch-Layer syndrome
Retinal detachment-occipital encephalocele syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|267750 +1572 1572|CVID
Idiopathic immunoglobulin deficiency
Primary antibody deficiency
Primary hypogammaglobulinemia|1-9 / 100 000|Autosomal dominant
or Autosomal recessive
or Not applicable|All ages|146830 240500 607594 613493 613494 613495 613496 614699 615577 616576 +157215 157215|HHRH|<1 / 1 000 000|Autosomal recessive|All ages|241530 +1573 1573|HJMD
Hypotrichosis with juvenile macular dystrophy|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|601553 +1574 1574|Mackay-Shek-Carr syndrome|<1 / 1 000 000|Autosomal recessive|Adult|267760 +1575 1575|-|-|-|-| +1576 1576|IBSN
Infantile striatonigral degeneration
Infantile striatonigral necrosis|1-9 / 1 000 000|Autosomal dominant
or Autosomal recessive
or Mitochondrial inheritance
or Not applicable|All ages|271930 500003 +1577 1577|-|-|-|-| +157713 157713|-|-|-|Neonatal
Infancy|603896 +157716 157716|-|-|-|Childhood|603896 +157719 157719|-|-|-|Adolescent
Adult|603896 +157769 157769|Incomplete situs inversus
Partial situs inversus
Situs ambiguous|-|-|Antenatal| +157788 157788|-|<1 / 1 000 000|Unknown|Childhood|603463 +157791 157791|-|Unknown|-|Childhood
Adolescent
Adult
Elderly| +157794 157794|HMPS|-|Autosomal dominant|Childhood|601228 610069 +157798 157798|Serrated polyposis|1-5 / 10 000|Unknown
or Autosomal dominant
or Multigenic/multifactorial|-|175020 617108 +1578 1578|CADH deficiency
Hyperphenylalaninemia due to dehydratase deficiency
Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
Hyperphenylalaninemia with primapterinuria
PCBD deficiency|Unknown|Autosomal recessive|Neonatal|264070 +157801 157801|MSSD
Syndactyly type 9
Syndactyly, Malik-Percin type|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|609432 +157808 157808|-|-|-|-|609143 +157820 157820|CISS|<1 / 1 000 000|Autosomal recessive|Childhood
Adult|272430 610313 617055 +157823 157823|-|-|-|-| +157826 157826|Congenital gingival cell tumor
Congenital granular cell tumor|1-9 / 1 000 000|-|Infancy
Neonatal| +157832 157832|-|<1 / 1 000 000|-|Neonatal|123050 +157835 157835|-|1-9 / 100 000|-|Adult| +157843 157843|-|-|-|-| +157846 157846|Adult basal ganglia disease
Ferritin-related neurodegeneration
Hereditary ferritinopathy|<1 / 1 000 000|Autosomal dominant|Adult|606159 +157850 157850|Hallervorden-Spatz syndrome
NBIA1
Neurodegeneration with brain iron accumulation type 1
PKAN|1-9 / 1 000 000|Autosomal recessive|All ages|234200 +157941 157941|Early-onset prion disease with prominent psychiatric features
HDL1|-|Autosomal dominant|Adult|603218 +157946 157946|HDL3|<1 / 1 000 000|Autosomal recessive|Childhood|604802 +157949 157949|CID due to RAG 1/2 deficiency
Combined immunodeficiency due to RAG 1/2 deficiency|-|-|-|233650 +157954 157954|Alopecia-progressive neurological defect-endocrinopathy syndrome|<1 / 1 000 000|Autosomal recessive|Adult|612079 +157962 157962|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|612109 +157965 157965|EDS, spondylocheirodysplastic type|<1 / 1 000 000|Autosomal recessive|-|612350 +157973 157973|L-CMD
LMNA-related congenital muscular dystrophy|<1 / 1 000 000|Not applicable|Infancy
Neonatal|613205 +157987 157987|-|-|-|-| +157991 157991|Generalized eruptive histiocytoma|<1 / 1 000 000|Not applicable|-| +157997 157997|-|<1 / 1 000 000|Not applicable|-| +158 158|CDSP
CUD
Carnitine transporter defect
Carnitine uptake deficiency
Deficiency of plasma-membrane carnitine transporter
SPCD|-|Autosomal recessive|Infancy
Neonatal|212140 +1580 1580|Distal 10p deletion
Monosomy 10pter
Telomeric deletion 10p|<1 / 1 000 000|Not applicable
or Unknown|Childhood|601362 +158000 158000|-|-|Not applicable|-| +158003 158003|Montgomery syndrome|-|Not applicable|-| +158008 158008|-|-|Not applicable|-| +158011 158011|-|-|Not applicable|-| +158014 158014|Destombes-Rosaï-Dorfman disease
Rosaï-Dorfman-Destombes disease
SHML
Sinus histiocytosis with massive lymphadenopathy|Unknown|-|Adolescent
Adult| +158019 158019|-|-|Not applicable|-| +158022 158022|-|-|Not applicable|-| +158025 158025|-|<1 / 1 000 000|Autosomal dominant|Childhood|142630 +158029 158029|-|<1 / 1 000 000|Autosomal dominant|Adolescent
Adult|269600 +158032 158032|HLH
Hemophagocytic lymphohistiocytosis|Unknown|-|Infancy
Childhood
Adolescent| +158038 158038|Genetic hemophagocytic lymphohistiocytosis|-|-|-| +158041 158041|Acquired hemophagocytic lymphohistiocytosis
Reactive hemophagocytic syndrome|-|-|-| +158048 158048|IAHS
VAHS
Virus-associated hemophagocytis syndrome|-|-|-| +158057 158057|-|-|-|-| +158061 158061|-|-|-|-| +1581 1581|Non-distal deletion 10q
Non-telomeric monosomy 10q|-|-|-| +158124 158124|-|-|-|-| +158266 158266|Huntington disease phenocopy syndrome|-|-|-| +158300 158300|-|-|-|-| +158661 158661|-|-|-|-| +158665 158665|-|-|-|-| +158668 158668|Ectodermal dysplasia-skin fragility syndrome
McGrath syndrome|Unknown|Autosomal recessive|Infancy
Neonatal|604536 +158673 158673|DEB, acral
DEB-ac|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal| +158676 158676|DEB-na
Nails-only DEB|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal| +158681 158681|EBS-migr|Unknown|Autosomal dominant|Infancy
Neonatal|609352 +158684 158684|EBS-PA|Unknown|Autosomal recessive|Neonatal|612138 +158687 158687|LAEB|<1 / 1 000 000|Autosomal recessive|Neonatal|609638 +1587 1587|Del(13)(q14)
Deletion 13q14|-|-|-|613884 +158766 158766|-|-|-|-| +158769 158769|-|-|-|-| +158772 158772|-|-|-|-| +158775 158775|-|-|-|-| +158778 158778|-|-|-|-| +158793 158793|-|-|-|-| +158796 158796|-|-|-|-| +158799 158799|-|-|-|-| +159 159|CACT deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|212138 +1590 1590|13q32 deletion
Deletion 13q32
Distal 13q deletion
Monosomy 13q32
Telomeric deletion13q|-|-|-|602553 +1596 1596|15q26 deletion syndrome
Distal 15q deletion syndrome
Monosomy 15q26
Telomeric 15q deletion syndrome|-|-|-|612626 +1597 1597|Distal 17q deletion
Monosomy 17qter
Telomeric deletion 17q|Unknown|Not applicable
or Unknown|Neonatal| +1598 1598|18p- syndrome
De Grouchy syndrome|1-9 / 100 000|Not applicable
or Unknown|Neonatal|146390 +16 16|Atypical X-linked achromatopsia
Blue cone monochromacy
Color blindness, blue monocone monochromatic type
S cone monochromacy
S cone monochromatism
X-linked incomplete achromatopsia|1-9 / 100 000|X-linked recessive|Infancy|303700 +160 160|Angiofollicular ganglionic hyperplasia
Angiofollicular lymph hyperplasia|Unknown|Not applicable|All ages|148000 +1600 1600|18q- syndrome
Deletion 18q|-|-|-|601808 +160148 160148|Cap inflammatory polyposis
Eroded polypoid hyperplasia
Inflammatory myoglandular polyps
Polypoid prolapsing folds|<1 / 1 000 000|Not applicable|Adolescent
Adult
Elderly
Childhood| +1606 1606|Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion|Unknown|Not applicable
or Unknown|Neonatal
Antenatal|607872 +1617 1617|Del(2)(q24)
Monosomy 2q24|<1 / 1 000 000|Not applicable|Antenatal
Neonatal| +162 162|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +1620 1620|3p- syndrome
Distal 3p deletion
Monosomy 3pter
Telomeric monosomy 3p|-|-|-|613792 +1621 1621|Del(3)(q13)
Monosomy 3q13|-|-|-|615433 +162516 162516|Isolated apertura pyriformis stenosis
Isolated nasal pyriform aperture hypoplasia|-|-|-| +162521 162521|Apertura pyriformis with holoprosencephaly|-|-|-| +162526 162526|Congenital auditory ossicle malformation without external ear abnormality|-|-|-| +1627 1627|Del (5)(q35)
Del (5)(qter)
Distal 5q deletion
Monosomy 5q35
Telomeric deletion 5q|<1 / 1 000 000|Not applicable
or Unknown|Neonatal
Antenatal| +163 163|Bonneau-Beaumont syndrome
HHCS
Hereditary hyperferritinemia-cataract syndrome|<1 / 1 000 000|Autosomal dominant|All ages|600886 +163209 163209|Brain malformation due to abnormal neuronal migration|-|-|-| +163525 163525|-|-|-|-| +163528 163528|-|-|-|Childhood
Adolescent
Adult| +163531 163531|-|-|Multigenic/multifactorial|Adult
Infancy
Childhood
Adolescent| +163582 163582|-|-|-|-| +163585 163585|-|-|-|-| +163588 163588|-|-|-|-| +163591 163591|-|-|-|-| +163596 163596|Alpha-thalassemia hydrops fetalis
Alpha-thalassemia major
Hemoglobin Bart's hydrops fetalis
Homozygous alpha0-thalassemia|Unknown|Autosomal recessive|Infancy
Neonatal|236750 +1636 1636|Distal deletion 7q36
Monosomy 7qter
Telomeric deletion 7q36|-|-|-| +163631 163631|-|-|-|-| +163634 163634|-|Unknown|Not applicable|Childhood|614569 +163637 163637|-|-|-|-| +163649 163649|Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|602611 +163654 163654|SED-BDS
Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
Tattoo dysplasia|<1 / 1 000 000|Unknown|Infancy
Neonatal|611717 +163662 163662|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|600561 +163665 163665|-|<1 / 1 000 000|Autosomal recessive|Childhood|271620 +163668 163668|Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|184000 +163681 163681|-|Unknown|Autosomal recessive|Childhood|610042 +163684 163684|-|<1 / 1 000 000|Autosomal recessive|Childhood|613724 +163690 163690|HCS|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|606407 +163693 163693|2p21 deletion syndrome
Del(2)(p21)
Monosomy 2p21|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|606407 +163696 163696|EPM4
Myoclonus-nephropathy syndrome
Progressive myoclonic epilepsy type 4|<1 / 1 000 000|Autosomal recessive|Adolescent
Adult|254900 +163699 163699|ASPS
Alveolar soft-part sarcoma|-|-|All ages|606243 +163703 163703|AERRPS
Acute encephalitis with refractory repetitive partial seizures
Acute non-herpetic encephalitis with severe refractory status epilepticus
DESC syndrome
Devastating epileptic encephalopathy in school-aged children
FIRES
Fever-induced refractory epileptic encephalopathy in school-aged children
Idiopathic catastrophic epileptic encephalopathy
Severe refractory status epilepticus owing to presumed encephalitis|1-9 / 100 000|Not applicable|All ages| +163708 163708|Late-onset infantile spasms|-|-|Childhood| +163717 163717|-|-|Autosomal dominant|-|611630 614417 615697 +163721 163721|-|-|Autosomal dominant
or X-linked dominant|-|245570 300643 +163727 163727|-|<1 / 1 000 000|-|Infancy|608105 +163746 163746|PCWH
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome
WS4 plus|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|609136 +163892 163892|-|-|-|-| +163895 163895|-|-|-|-| +163898 163898|Classic paraneoplastic limbic encephalitis, with or without intracellular antigens|-|-|-| +163903 163903|-|-|-|-| +163908 163908|Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies|-|-|-| +163914 163914|Limbic encephalitis with novel cell membrane antigen antibodies|-|-|-| +163918 163918|-|-|-|-| +163921 163921|-|-|-|-| +163924 163924|-|-|-|-| +163927 163927|LPP
Localized pustular psoriasis
PPP
Palmoplantar pustulosis|-|Autosomal dominant
or Autosomal recessive|-| +163931 163931|-|-|Autosomal recessive|-| +163934 163934|-|1-5 / 10 000|-|-| +163937 163937|MICPCH
X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|<1 / 1 000 000|X-linked dominant|Infancy
Neonatal|300749 +163956 163956|X-linked intellectual disability-nail dystrophy-seizures syndrome|<1 / 1 000 000|X-linked recessive|Infancy|300860 +163961 163961|X-linked cerebral-cerebellar-coloboma syndrome syndrome|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300864 +163966 163966|X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome|<1 / 1 000 000|X-linked dominant|Infancy
Neonatal|300863 +163971 163971|X-linked intellectual disability-microcephaly-testicular failure syndrome|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal| +163976 163976|-|<1 / 1 000 000|X-linked recessive|-| +163979 163979|-|<1 / 1 000 000|X-linked recessive|-|300712 +163982 163982|-|<1 / 1 000 000|X-linked recessive|-|309640 +163985 163985|-|<1 / 1 000 000|X-linked recessive|-|300607 +163988 163988|-|<1 / 1 000 000|X-linked recessive|Infancy| +164001 164001|-|-|-|-| +164004 164004|-|-|-|-| +1642 1642|Distal deletion 9p
Monosomy 9pter
Telomeric deletion 9p|-|-|-| +1643 1643|Del(X)(p23)|-|-|-| +1646 1646|Male sterility due to chromosome Y deletion|1-5 / 10 000|Not applicable
or Y-linked|Adult|400042 415000 +1647 1647|Delleman syndrome
Delleman-Oorthuys syndrome
Leichtman-Wood-Rohn syndrome
OCCS
Orbital cyst with cerebral and focal dermal malformations|<1 / 1 000 000|Not applicable|Neonatal|164180 +164726 164726|AML and myelodysplastic syndromes related to radiation|-|-|-| +164736 164736|FASPS|-|Autosomal dominant|Childhood
Adolescent|604348 615224 616882 +164823 164823|-|-|-|-| +165 165|Lipidosis with triglyceride storage disease|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +1652 1652|Dent syndrome
Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis
Renal Fanconi syndrome with nephrocalcinosis and renal stones
X-linked recessive hypercalciuric hypophosphatemic rickets
X-linked recessive nephrolithiasis|Unknown|X-linked recessive|Childhood|300009 300554 300555 308990 310468 +1653 1653|DD|Unknown|Autosomal dominant|All ages|125400 125420 +1654 1654|-|-|-|-|243185 +1655 1655|-|<1 / 1 000 000|Unknown|Neonatal
Antenatal|235255 +1656 1656|Durhing-Brocq disease|1-5 / 10 000|Not applicable|All ages|601230 +165652 165652|-|-|-|-| +165655 165655|-|-|-|-| +165658 165658|-|-|-|-| +165661 165661|-|-|-|-| +1657 1657|-|<1 / 1 000 000|Autosomal recessive|Infancy|221810 +165704 165704|-|-|-|-| +165707 165707|-|-|-|-| +165711 165711|-|-|-|-| +1658 1658|Absence of dermatoglyphics-congenital milia syndrome
Baird syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|129200 +165805 165805|-|<1 / 1 000 000|Autosomal recessive|Childhood
Infancy|614418 +1659 1659|-|<1 / 1 000 000|Autosomal recessive|Neonatal|221790 +165955 165955|-|-|Not applicable|-| +165958 165958|-|-|Not applicable|-| +165985 165985|Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form|-|-|-| +165988 165988|Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form|-|-|-| +165991 165991|EIHI
Exercise-induced hyperinsulinemic hypoglycemia
Hyperinsulinism due to SLC16A1 deficiency
Hyperinsulinism due to monocarboxylate transporter 1 deficiency|-|Autosomal dominant|-|610021 +165994 165994|-|-|Autosomal dominant|-|145650 +166 166|CMT
Charcot-Marie-Tooth hereditary neuropathy|1-5 / 10 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive
or X-linked dominant|All ages| +1660 1660|-|<1 / 1 000 000|Autosomal dominant|Childhood|125640 +166002 166002|-|-|Autosomal dominant|-|600204 600969 614135 +166011 166011|Multiple epiphyseal dysplasia-myopia-deafness syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|132450 +166016 166016|Multiple epiphyseal dysplasia with Robin phenotype|<1 / 1 000 000|-|Neonatal|601560 +166024 166024|Multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|607131 +166029 166029|-|<1 / 1 000 000|-|Childhood|609324 +166032 166032|-|<1 / 1 000 000|-|Infancy
Childhood|609325 +166035 166035|-|<1 / 1 000 000|-|Infancy
Childhood|250410 +166038 166038|-|<1 / 1 000 000|-|Neonatal|250230 +166063 166063|Fatal infantile encephalopathy with olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia
PCH4|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|225753 +166068 166068|Fetal-onset olivopontocerebellar hypoplasia
PCH5|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|610204 +166073 166073|Fatal infantile encephalopathy with mitochondrial respiratory chain defects
PCH6|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|611523 +166078 166078|-|1-5 / 10 000|Autosomal dominant|All ages|193400 +166081 166081|-|1-5 / 10 000|Autosomal dominant
or Autosomal recessive|All ages|613554 +166084 166084|-|Unknown|Autosomal dominant
or Autosomal recessive|-|613554 +166087 166087|-|Unknown|Autosomal dominant|-|613554 +166090 166090|-|Unknown|Autosomal dominant|-|613554 +166093 166093|-|Unknown|Autosomal recessive|-|613554 +166096 166096|-|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal|277480 +1661 1661|Corneal dystrophy epithelial-short stature syndrome
Guízar Vázquez-Luengas-Muñoz syndrome|<1 / 1 000 000|X-linked recessive|Neonatal|304730 +166100 166100|Stickler syndrome, non-ocular type|-|Autosomal dominant|-|184840 +166105 166105|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +166108 166108|Intellectual disability-hypotonia-facial dysmorphism syndrome|<1 / 1 000 000|-|Infancy|612292 +166113 166113|Acrokeratosis of Bazex
Acrokeratosis paraneoplastica
Acrokeratosis paraneoplastica of Bazex|<1 / 1 000 000|Not applicable|Adult| +166119 166119|-|-|Autosomal dominant|-|166700 +1662 1662|Hyperkeratosis-contracture syndrome
Lethal restrictive dermopathy
Tight skin contracture syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Antenatal
Neonatal|275210 +166260 166260|Capdepont teeth
DGI-2
DI-2
Dentinogenesis imperfecta, Shields type 2|1-5 / 10 000|Autosomal dominant|Childhood|125490 605594 +166265 166265|Dentinogenesis imperfecta, Shields type 3|Unknown|Autosomal dominant|Childhood|125500 +166272 166272|Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome
Goldblatt chondrodysplasia
Goldblatt syndrome
ODCD|<1 / 1 000 000|-|Infancy
Neonatal|184260 +166277 166277|Suarez-Stickler syndrome|<1 / 1 000 000|Unknown|Childhood|604922 +166282 166282|Familial sinus node dysfunction|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|-|163800 182190 608567 614090 +166286 166286|Comedo nevus of the palm
Porokeratotic eccrine nevus|<1 / 1 000 000|-|Infancy
Neonatal| +166291 166291|-|<1 / 1 000 000|Not applicable|All ages| +166295 166295|-|-|-|-| +166299 166299|-|-|-|-| +166302 166302|-|-|-|-| +166305 166305|-|-|-|-| +166308 166308|-|<1 / 1 000 000|-|Infancy| +166311 166311|-|-|-|-| +1664 1664|-|-|-|-| +166409 166409|-|-|-|-|132100 609572 609573 +166412 166412|-|-|-|-|613339 613340 +166415 166415|-|-|-|-| +166418 166418|-|-|-|-| +166421 166421|-|-|-|-| +166424 166424|-|-|-|-| +166427 166427|-|-|-|-| +166430 166430|-|-|-|-| +166433 166433|-|-|-|-|132300 +166463 166463|-|-|-|-| +166466 166466|-|-|-|-| +166469 166469|-|-|-|-| +166472 166472|-|-|-|-| +166475 166475|-|-|-|-| +166478 166478|-|-|-|-| +166481 166481|-|-|-|-| +166484 166484|-|-|-|-| +166487 166487|-|-|-|-| +166490 166490|-|-|-|-| +1665 1665|-|-|Not applicable|Antenatal| +1666 1666|-|-|-|-| +1667 1667|Early-onset diabetes mellitus with multiple epiphyseal dysplasia
WRS|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|226980 +166775 166775|Rare bleeding disorder due to an acquired coagulation factor defect
Rare coagulopathy due to an acquired coagulation factor defect|-|-|-| +167 167|Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome|Unknown|Autosomal recessive|Childhood|214500 +1670 1670|-|-|-|-|520100 +1671 1671|-|-|-|-|222500 +1672 1672|Diencephalic cachexia
Diencephalic syndrome of childhood
Diencephalic syndrome of emaciation
Russell diencephalic cachexia
Russell syndrome|Unknown|Not applicable|Infancy
Childhood| +1675 1675|Familial pyrimidinemia|Unknown|-|All ages|274270 +1676 1676|-|-|-|-| +167635 167635|Arndt-Gottron disease
Generalized lichenoid papular eruption
Generalized papular and sclerodermoid lichen myxedematosus|-|-|Adult| +1677 1677|-|Unknown|Unknown|All ages| +167714 167714|Unclassified AML|-|-|-| +167759 167759|-|-|-|-| +167762 167762|-|-|-|-| +167848 167848|-|-|-|-| +1679 1679|-|-|-|All ages| +168 168|-|Unknown|Autosomal dominant|Childhood|600628 +1680 1680|Little syndrome|-|-|-| +1681 1681|Craniofacial duplication
Diprosopia|-|No data available|-| +168194 168194|-|-|-|-| +1682 1682|-|<1 / 1 000 000|Unknown|Childhood|600459 +168443 168443|-|<1 / 1 000 000|-|Neonatal
Infancy|183849 +168448 168448|-|<1 / 1 000 000|-|Infancy|300232 +168451 168451|-|<1 / 1 000 000|-|-|601668 +168454 168454|-|<1 / 1 000 000|Autosomal recessive|Infancy|610442 +168486 168486|Congenital NCL|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|610127 +168491 168491|Jansky-Bielschowsky disease
LINCL
Late infantile NCL|Unknown|Autosomal recessive|Childhood|204500 256730 256731 600143 601780 610127 610951 +1685 1685|Distomiasis
Fluke infection|Unknown|Not applicable|All ages| +168544 168544|X-linked spondylometaphyseal dysplasia|<1 / 1 000 000|X-linked recessive|No data available|313420 +168549 168549|-|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood|602271 +168552 168552|-|<1 / 1 000 000|Autosomal recessive|Infancy|607543 +168555 168555|-|<1 / 1 000 000|Autosomal recessive|Infancy|609052 +168558 168558|XY sex reversal-adrenal failure syndrome|<1 / 1 000 000|Autosomal recessive
or Autosomal dominant|Neonatal
Infancy|613743 +168566 168566|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|610505 +168569 168569|-|<1 / 1 000 000|Autosomal recessive|Childhood|602782 +168572 168572|Congenital myopathy-cleft palate-malignant hyperthermia syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|255995 +168577 168577|CHC type 2
Hereditary cryohydrocytosis type 2
Stomatin-deficient cryohydrocytosis
sdCHC|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|608885 +168583 168583|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|604901 +168588 168588|11-beta-hydroxysteroid dehydrogenase deficiency type 1|<1 / 1 000 000|Autosomal recessive
or Autosomal dominant|-|604931 614662 +168593 168593|SIDDT|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|608800 +168598 168598|MAT I/III deficiency
MAT deficiency
Methionine adenosyltransferase deficiency|<1 / 1 000 000|Autosomal recessive|Infancy|250850 +1686 1686|-|Unknown|Not applicable|Infancy
Neonatal| +168601 168601|Congenital enterokinase deficiency|-|Autosomal recessive|Infancy
Neonatal|226200 +168606 168606|-|<1 / 1 000 000|Autosomal dominant|Childhood|610227 +168609 168609|Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure
Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure
Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure
Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure
Mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure
Mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure
Mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure|Unknown|Mitochondrial inheritance|All ages|580000 +168612 168612|-|-|-|-|615969 +168615 168615|-|-|-|-|615970 +168621 168621|-|Unknown|-|Infancy
Neonatal| +168624 168624|Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|609579 +168629 168629|-|-|Autosomal dominant
or Autosomal recessive|-|188000 273900 612004 +168632 168632|-|-|Autosomal dominant|-|605827 +168778 168778|Rare ASD
Rare PDD
Rare autism spectrum disorder|-|-|-| +168782 168782|Dementia infantilis
Heller syndrome|1-9 / 100 000|-|-| +168796 168796|Atriodigital dysplasia, Slovenian type
Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome|<1 / 1 000 000|Autosomal dominant|Adult|610140 +168803 168803|-|-|-|-| +168807 168807|-|-|-|-| +168811 168811|Diffuse malignant peritoneal mesothelioma
Primary malignant peritoneal mesothelioma|1-9 / 100 000|Multigenic/multifactorial
or Not applicable|Adult| +168816 168816|Benign multicystic peritoneal mesothelioma
Multicystic mesothelioma
Multilocular peritoneal inclusion cyst|Unknown|Unknown|Adult| +168829 168829|EOPPC
Extra-ovarian primary peritoneal carcinoma
PPC
Primary peritoneal serous carcinoma
Serous surface papillary carcinoma|Unknown|Unknown|Adult| +168940 168940|-|-|-|-| +168943 168943|-|-|-|-| +168947 168947|-|-|-|-| +168950 168950|-|-|-|-| +168953 168953|8p11 myeloproliferative syndrome
Stem cell leukemia/lymphoma|-|-|-|613523 +168956 168956|HES|1-9 / 100 000|Not applicable
or Unknown|All ages| +168960 168960|RAEB-t|-|-|-| +168966 168966|Composite Hodgkin and non-Hodgkin lymphoma|-|-|-| +168984 168984|-|<1 / 1 000 000|Unknown|Infancy
Neonatal|613089 +168999 168999|-|Unknown|-|-| +169 169|Pili annulati|Unknown|Autosomal dominant
or Not applicable|Childhood|180600 +169079 169079|Cernunnos XLFD
Cernunnos deficiency
Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome
NHEJ1 deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|611291 +169082 169082|-|-|Autosomal recessive|-|615607 +169085 169085|Familial CD8 deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|608957 +169090 169090|Immune dysfunction due to T-cell inactivation due to calcium entry defect|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|612782 612783 +169095 169095|Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome
Winged helix deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|601705 +169100 169100|Interleukin-2 receptor alpha chain deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|606367 +169105 169105|Thymoma-immunodeficiency syndrome|Unknown|-|Adult| +169110 169110|-|-|-|-| +169139 169139|-|-|-|-| +169142 169142|Neutrophil-specific granule deficiency|-|Autosomal recessive|Infancy
Neonatal|245480 +169147 169147|Immunodeficiency due to a C1, C4, or C2 component complement deficiency
Immunodeficiency due to an early component of complement deficiency|-|-|-|216950 217000 613652 613783 614379 614380 +169150 169150|Deficiency of complement of terminal pathway
Immunodeficiency due to a C5 to C9 component complement deficiency|-|-|-|609536 610102 612446 613789 613790 613825 +169154 169154|T-B+ SCID due to IL-7Ralpha deficiency|-|-|-|608971 +169157 169157|T-B+ SCID due to CD45 deficiency|-|Autosomal recessive|-|608971 +169160 169160|T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta|-|-|-|608971 610163 615615 615617 +169163 169163|-|-|-|-| +169186 169186|AR-CNM|Unknown|Autosomal recessive|Childhood|255200 615959 +169189 169189|AD-CNM|Unknown|Autosomal dominant|Adolescent
Infancy
Childhood|160150 614408 +1692 1692|-|-|-|-| +169346 169346|-|-|-|-| +169349 169349|-|-|-|-| +169355 169355|-|-|-|-| +169361 169361|-|-|-|-| +169443 169443|-|-|-|-| +169464 169464|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|612300 +169467 169467|-|-|-|-|613912 +1695 1695|Non-distal duplication 10q
Non-telomeric trisomy 10q|-|-|-| +169615 169615|-|-|-|-| +169618 169618|-|-|-|-| +169793 169793|Severe factor IX deficiency|1-9 / 1 000 000|X-linked recessive|Infancy
Neonatal| +169796 169796|Moderately severe factor IX deficiency|1-9 / 1 000 000|X-linked recessive|Infancy
Neonatal| +169799 169799|Mild factor IX deficiency|1-9 / 1 000 000|X-linked recessive|Infancy
Neonatal| +1698 1698|-|-|-|-| +169802 169802|Severe factor VIII deficiency|1-9 / 100 000|X-linked recessive|Infancy
Neonatal| +169805 169805|Moderately severe factor VIII deficiency|-|X-linked recessive|Infancy
Neonatal| +169808 169808|Mild factor VIII deficiency|-|X-linked recessive|Infancy
Neonatal| +169826 169826|-|-|-|-| +1699 1699|Duplication 12p|<1 / 1 000 000|Not applicable
or Unknown|Neonatal| +17 17|-|Unknown|Autosomal recessive|Infancy
Neonatal|245400 +170 170|Familial woolly hair syndrome
Familial wooly hair syndrome
Hereditary woolly hair syndrome
Hereditary wooly hair syndrome
Wooly hair|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|194300 278150 604379 615896 616760 +1702 1702|Non-distal duplication 13q
Non-telomeric trisomy 13q|-|-|-| +1703 1703|-|-|-|-| +1705 1705|Distal duplication 14q
Telomeric duplication 14q
Trisomy 14qter|-|-|-| +1706 1706|-|-|-|-| +1707 1707|Distal duplication 15q
Telomeric duplication 15q
Trisomy 15qter|-|-|-| +1708 1708|-|-|-|-| +171 171|PSC|1-9 / 100 000|Multigenic/multifactorial|Adult|602114 613806 +1711 1711|-|-|-|-| +171201 171201|-|-|-|-| +171208 171208|-|-|-|-| +171215 171215|-|-|-|-| +171220 171220|-|-|-|-| +1713 1713|Potocki-Lupski syndrome
Trisomy 17p11.2|-|-|-|610883 +171430 171430|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|161800 256030 615348 615731 616165 +171433 171433|-|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Neonatal|161800 256030 609284 615731 +171436 171436|-|1-9 / 100 000|Autosomal dominant
or Autosomal recessive|Neonatal|161800 256030 609285 610687 615731 616165 +171439 171439|Mild nemaline myopathy|<1 / 1 000 000|Autosomal dominant|Childhood|161800 256030 609273 609284 609285 615731 +171442 171442|-|<1 / 1 000 000|Not applicable|Adult| +171445 171445|-|-|Autosomal dominant|-|609524 +1715 1715|Duplication 18p
Duplication of the short arm of chromosome 18
Trisomy of the short arm of chromosome 18|<1 / 1 000 000|-|-| +1716 1716|Distal duplication 18q
Telomeric duplication 18q
Trisomy 18qter|-|-|-| +171607 171607|SPG34|<1 / 1 000 000|X-linked recessive|Adolescent
Childhood
Adult|300750 +171612 171612|SPG37|<1 / 1 000 000|Autosomal dominant|All ages|611945 +171617 171617|SPG38|<1 / 1 000 000|Autosomal dominant|Childhood|612335 +171622 171622|SPG32|<1 / 1 000 000|Autosomal recessive|Childhood|611252 +171629 171629|SPG35|<1 / 1 000 000|Autosomal recessive|Childhood
Adolescent|612319 +171673 171673|-|1-9 / 100 000|-|-| +171676 171676|-|-|-|-| +171680 171680|-|<1 / 1 000 000|Autosomal dominant
or Not applicable|-|611603 +171684 171684|-|-|-|-| +171690 171690|Erythrocyte lactate transporter defect|-|-|-|245340 +171695 171695|Pallidopyramidal syndrome|-|Autosomal recessive|Adolescent
Adult|168100 168601 260300 +1717 1717|Distal duplication 19q
Telomeric duplication 19q
Trisomy 19qter|-|-|-| +171700 171700|-|<1 / 1 000 000|Multigenic/multifactorial|Adult|604809 +171703 171703|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +171706 171706|-|Unknown|Autosomal recessive|-|609698 +171709 171709|Mae infertility due to round-headed spermatozoa|-|Autosomal recessive|Adult|102530 613958 +171714 171714|Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome|-|Autosomal recessive|Infancy
Neonatal|609056 +171719 171719|-|-|-|Infancy
Neonatal|614100 +171723 171723|Hereditary mucosal leukokeratosis
White sponge nevus of Cannon|-|Autosomal dominant|-|193900 615785 +171829 171829|Del(6)(q16)
Monosomy 6q16
Prader-Willi-like syndrome due to deletion 6q16|<1 / 1 000 000|Unknown|-| +171836 171836|-|<1 / 1 000 000|Autosomal recessive|-|614253 +171839 171839|Berant syndrome
Capra-DeMarco syndrome
Familial scaphocephaly-radioulnar synostosis syndrome|<1 / 1 000 000|-|Neonatal| +171844 171844|-|<1 / 1 000 000|Autosomal dominant|Childhood
Adolescent|612445 +171848 171848|PHARC syndrome
Peripheral neuropathy, Fiskerstrand type|<1 / 1 000 000|Autosomal recessive|Childhood|612674 +171851 171851|Erythrokeratodermia variabilis 3
Erythrokeratodermia variabilis, Kamouraska type
Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome|<1 / 1 000 000|Autosomal recessive|-|609313 +171860 171860|-|<1 / 1 000 000|Autosomal recessive|Childhood| +171863 171863|SPG42|<1 / 1 000 000|Autosomal dominant|Adolescent
Adult
Childhood|612539 +171866 171866|SEMD, aggrecan type|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|612813 +171871 171871|Autosomal dominant pseudohypoaldosteronism type 1|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal|177735 +171876 171876|Autosomal recessive pseudohypoaldosteronism type 1|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|264350 +171881 171881|Cap disease|<1 / 1 000 000|Autosomal dominant|All ages|609284 609285 +171886 171886|-|-|-|-| +171889 171889|-|-|-|-| +171895 171895|-|-|-|-| +171898 171898|-|-|-|-| +171901 171901|-|1-5 / 10 000|-|-| +171915 171915|B-cell NHL|-|-|-| +171918 171918|T-cell NHL|-|-|-| +171929 171929|-|Unknown|-|-| +172 172|PFIC|Unknown|Autosomal recessive|Infancy
Neonatal
Childhood
Adolescent|211600 601847 602347 615878 +1723 1723|-|-|-|-| +1724 1724|-|-|-|-| +1727 1727|Dup(22)(q11)
Duplication 22q11.2
Trisomy 22q11.2|Unknown|Autosomal dominant
or Not applicable|Infancy|608363 +172973 172973|-|-|-|-| +172976 172976|-|-|-|-| +172979 172979|-|-|-|-| +172982 172982|-|-|-|-| +172985 172985|-|-|-|-| +173 173|-|<1 / 1 000 000|Not applicable|All ages| +1738 1738|Duplication 4p
Duplication of the short arm of chromosome 4
Trisomy of the short arm of chromosome 4|-|-|-| +174 174|-|Unknown|Autosomal dominant|Childhood
Infancy|156500 +1742 1742|Duplication 5p
Duplication of the short arm of chromosome 5
Trisomy of the short arm of chromosome 5|<1 / 1 000 000|Not applicable
or Unknown|Neonatal
Antenatal| +1745 1745|Distal duplication 6p
Telomeric duplication 6p
Trisomy 6pter|<1 / 1 000 000|-|Neonatal
Antenatal| +174590 174590|-|-|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Infancy
Neonatal| +1747 1747|-|-|-|-| +175 175|Autosomal recessive metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia, McKusick type|Unknown|Autosomal recessive|Infancy
Neonatal|250250 +1752 1752|Duplication 8q|<1 / 1 000 000|Unknown|Neonatal| +1756 1756|Dipygus
Split notochord syndrome|Unknown|Not applicable|Neonatal
Antenatal|607864 +1757 1757|Leg duplication-mirror foot syndrome|<1 / 1 000 000|Not applicable|Neonatal| +1759 1759|-|-|-|-| +176 176|-|Unknown|Autosomal recessive
or X-linked recessive
or X-linked dominant
or Autosomal dominant|Infancy
Neonatal| +1762 1762|Distal duplication Xq
Telomeric duplication Xq|<1 / 1 000 000|-|Neonatal
Antenatal|300815 +1764 1764|HSAN3
Hereditary sensory and autonomic neuropathy type 3
Riley-Day syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|223900 +1765 1765|-|<1 / 1 000 000|Autosomal dominant|No data available|127350 +1766 1766|CAMRQ syndrome
Cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome
Non-progressive cerebellar ataxia-intellectual disability syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|224050 610185 613227 615268 +1767 1767|-|-|-|-|193005 +1768 1768|Rudd-Klimek syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +177 177|RCDP|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal|215100 222765 600121 +1770 1770|-|<1 / 1 000 000|Autosomal recessive|Neonatal|233430 +177101 177101|-|-|-|-| +177107 177107|-|Unknown|-|-| +1773 1773|-|-|-|-| +1775 1775|DC
DKC
Zinsser-Engman-Cole syndrome|1-9 / 1 000 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Neonatal
Infancy
Childhood
Adolescent
Adult|127550 224230 305000 613987 613988 613989 613990 615190 616353 +1777 1777|Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome
Temtamy-Shalash syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|218340 +1778 1778|Seaver-Cassidy syndrome|-|-|-| +1779 1779|-|-|-|-| +177901 177901|-|-|-|-| +177904 177904|-|-|-|-| +177907 177907|-|-|-|-| +177910 177910|-|-|-|-| +177926 177926|-|Unknown|X-linked recessive|-| +177929 177929|-|Unknown|X-linked recessive|-| +178 178|Notochordal sarcoma|-|Autosomal dominant
or Not applicable|Adult|215400 +1780 1780|Dysmorphism-multiple structural anomalies syndrome|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|227255 +178025 178025|-|-|-|-| +178029 178029|CDI
Neurogenic diabetes insipidus|1-9 / 100 000|Autosomal dominant
or Autosomal recessive
or X-linked dominant|Childhood|125700 304900 +178040 178040|-|-|-|-| +178045 178045|-|-|-|-| +178145 178145|-|-|-|-|117000 +178148 178148|-|-|-|-| +1782 1782|-|<1 / 1 000 000|Autosomal recessive
or X-linked recessive|Infancy
Neonatal|224300 +178303 178303|Monosomy 8q22.1
Nablus mask-like facial syndrome|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal|608156 +178307 178307|RAPK|<1 / 1 000 000|Autosomal dominant|Adolescent
Adult|615537 +178311 178311|-|-|-|-| +178315 178315|Embryonal sarcoma of the liver
UES
Undifferentiated sarcoma of the liver|-|-|-| +178320 178320|-|1-5 / 10 000|-|-| +178330 178330|-|<1 / 1 000 000|Autosomal dominant|-|140700 +178333 178333|AIED
Forsius-Eriksson syndrome
Forsius-Eriksson type ocular albinism|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300600 +178338 178338|-|<1 / 1 000 000|Autosomal recessive|Childhood|600630 614621 614640 +178342 178342|-|-|-|-| +178345 178345|AEXS
Familial hyperestrogenism
Hereditary prepubertal gynecomastia|-|Autosomal dominant|-|139300 +178355 178355|-|-|Autosomal recessive|-|607326 615222 +178364 178364|MCOPS5
Syndromic microphthalmia/anophthalmia due to OTX2 mutation|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|610125 +178377 178377|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +178382 178382|Congenital convex foot
Congenital convex pes valgus
Congenital rocker-bottom foot|Unknown|Autosomal dominant|Infancy
Neonatal|192950 +178389 178389|Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
Autosomal recessive osteopetrosis type 7|<1 / 1 000 000|Autosomal recessive|-|612301 +178396 178396|-|<1 / 1 000 000|Autosomal dominant
or Not applicable|Adolescent| +1784 1784|Richieri-Costa-Colletto syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|201180 +178400 178400|Distal anterior compartment myopathy|<1 / 1 000 000|-|Adolescent
Adult|606768 +178461 178461|-|<1 / 1 000 000|X-linked recessive|Adult|300696 +178464 178464|ADMERF
Edström Myopathy
HIBM-ERF
HMERF
Hereditary inclusion body myopathy with early respiratory failure
Myofibrillar myopathy with early respiratory failure|<1 / 1 000 000|Autosomal dominant|-|603689 +178469 178469|-|-|Autosomal dominant|-|156200 612580 612581 612621 613970 614113 614254 614255 614256 614257 614563 615828 616393 616579 +178475 178475|Cutaneous infectious botulism
Cutaneous toxin-mediated botulism
Inoculation botulism
Skin infectious botulism
Skin toxin-mediated botulism|Unknown|-|All ages| +178478 178478|Infant intestinal botulism
Infant intestinal toxemia botulism
Infant intestinal toxin-mediated botulism
Infantile botulism|Unknown|-|Infancy
Neonatal| +178481 178481|Intestinal colonization botulism
Intestinal toxemia botulism
Intestinal toxin-mediated botulism|Unknown|-|All ages| +178487 178487|Adult intestinal colonization botulism
Adult intestinal toxemia botulism
Adult intestinal toxin-mediated botulism
Infant-like botulism|Unknown|-|Adult| +178493 178493|Myopic maculopathy|-|-|-| +178506 178506|-|<1 / 1 000 000|Autosomal recessive|-|613658 +178509 178509|Parkinsonism with alveolar hypoventilation and mental depression|<1 / 1 000 000|Autosomal dominant|Adult|168605 +178512 178512|Mycosis fungoides-associated follicular mucinosis|Unknown|Not applicable|Adult| +178517 178517|Pagetoid reticulosis, Woringer-Kolopp type|Unknown|Not applicable|Adult| +178522 178522|-|-|-|-| +178528 178528|Berti lymphoma
Primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma|-|-|-| +178533 178533|-|-|-|-| +178536 178536|PCMZL|-|-|-| +178540 178540|PCFCL|-|-|-| +178544 178544|PCDLBCL,LT|-|-|-| +178548 178548|-|-|-|-| +178551 178551|-|-|-|-| +178554 178554|-|-|-|-| +178557 178557|-|-|-|-| +178563 178563|-|-|-|-| +178566 178566|-|Unknown|Not applicable|Adult| +1786 1786|Opitz-Caltabiano syndrome|<1 / 1 000 000|Unknown|Neonatal
Antenatal|101805 +1787 1787|-|<1 / 1 000 000|Unknown|Infancy
Neonatal|601829 +1788 1788|-|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|201170 +178996 178996|Immunologic neutropenia|-|-|-| +179 179|Birdshot chorioretinitis
Birdshot retinochoroiditis
Birdshot retinochoroidopathy
Vitiliginous choroiditis|1-9 / 1 000 000|Unknown|Adult
Elderly|605808 +1790 1790|-|<1 / 1 000 000|Unknown|Neonatal
Antenatal|241310 +179006 179006|-|-|-|-| +1791 1791|Gollop syndrome|<1 / 1 000 000|-|Neonatal|229400 +1794 1794|Richieri-Costa-Gorlin syndrome|-|-|-| +179490 179490|-|-|-|-| +179494 179494|-|-|Autosomal recessive|-|614963 +1795 1795|-|-|-|-|170700 +1797 1797|Autosomal dominant spondylocostal dysplasia|Unknown|Autosomal dominant|No data available|122600 +1798 1798|Autosomal dominant osteosclerosis, Stanescu type
Craniofacial dysostosis-diaphyseal hyperplasia syndrome
Stanescu osteosclerosis|<1 / 1 000 000|Autosomal dominant|Neonatal|122900 +1799 1799|Billard-Toutain-Maheut syndrome
FOXP2-associated dysphasia|<1 / 1 000 000|Autosomal dominant|Childhood|600117 +18 18|Classic RTA
Familial distal primary acidosis
Renal tubular acidosis type 1
dRTA|Unknown|Autosomal dominant
or Autosomal recessive
or Not applicable|All ages|179800 267300 602722 611590 +180 180|CHM
Tapetochoroidal dystrophy|1-9 / 100 000|X-linked recessive|Adolescent
Childhood
Adult|303100 +180062 180062|-|-|-|-| +180065 180065|-|-|-|-| +180068 180068|Incomplete bilateral aplasia of the Müllerian ducts|-|-|-| +180071 180071|Unicornuate uterus|-|-|-| +180074 180074|Complete unilateral Müllerian aplasia
Complete unilateral aplasia of the Müllerian ducts
Unicornuate uterus without rudimentary horn|-|-|-| +180079 180079|Incomplete unilateral Müllerian aplasia
Incomplete unilateral aplasia of the Müllerian ducts
Unicornuate uterus with rudimentary horn|-|-|-| +180086 180086|Bicervical bicornuate uterus|-|-|-| +1801 1801|-|-|-|-|211350 +180106 180106|-|-|-|-| +180111 180111|-|-|-|-| +180114 180114|-|-|-|-| +180118 180118|Uterus arcuatus
Uterus cordiformis|-|-|-| +180122 180122|-|-|-|-| +180126 180126|-|-|-|-| +180129 180129|-|-|-|-| +180134 180134|-|-|-|-| +180139 180139|-|-|-|-| +180142 180142|-|-|-|-| +180145 180145|-|-|-|-| +180148 180148|-|-|-|-| +180151 180151|-|-|-|-| +180154 180154|-|-|-|-| +180157 180157|-|-|-|-| +180160 180160|-|-|-|-| +180163 180163|-|-|-|-| +180170 180170|-|-|-|-| +180173 180173|-|-|-|-| +180176 180176|Familial juvenile gigantomastia
Virginal breast hypertrophy|-|Not applicable|-|113670 +180182 180182|Accessory breasts
Polymastia|-|-|-| +180188 180188|Isolated congenital amastia|-|-|-|113700 616001 +180193 180193|-|-|-|-| +180199 180199|-|-|-|-| +1802 1802|Diaphyseal dysplasia-anemia syndrome
Ghosal syndrome|<1 / 1 000 000|Autosomal recessive|-|231095 +180202 180202|-|-|-|-| +180205 180205|-|-|-|-| +180208 180208|-|-|-|-| +180220 180220|syn: Rare tumor of ovaries and fallopian tubes|-|-|-| +180226 180226|-|-|-|-| +180229 180229|-|-|-|-| +180234 180234|-|-|-|-| +180237 180237|-|-|-|-| +180242 180242|Cancer of fallopian tubes
Malignant tubal tumor
Tubal cancer|1-9 / 100 000|-|-| +180247 180247|Vaginal malignant epithelial tumor|-|-|-| +180250 180250|-|-|-|-| +180253 180253|-|-|-|-| +180257 180257|Rare breast cancer|-|-|-| +180261 180261|Cystosarcoma phyllode
Cystosarcoma phylloide
Phylloide tumor|-|-|Adult| +180267 180267|-|-|-|-| +180275 180275|Mammary Paget disease
Paget disease of the breast
Paget's disease of the nipple|-|-|Adult| +180284 180284|-|-|-|-| +1803 1803|Rivera-Perez-Salas syndrome|-|-|-|273740 +180303 180303|-|-|-|-| +180312 180312|-|-|-|-| +1804 1804|-|-|-|-|601561 +1806 1806|-|<1 / 1 000 000|Autosomal recessive|Neonatal|268320 +1807 1807|FFDD type III
FFDD3
Focal facial dermal dysplasia 3, Setleis type
Setleis syndrome|Unknown|Autosomal dominant
or Autosomal recessive|Neonatal
Antenatal|227260 +180766 180766|-|-|-|-| +180772 180772|-|-|-|-| +180776 180776|-|-|-|-| +180779 180779|-|-|-|-| +1808 1808|Christianson-Fourie syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|601375 +180821 180821|-|-|-|-| +180824 180824|Rare pancreatic tumor|-|-|-| +1809 1809|Ectodermal dysplasia with skin anomalies and intellectual disability
Halal-Setton-Wang syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +181 181|Christ-Siemens-Touraine syndrome
X-linked anhidrotic ectodermal dysplasia
XHED|1-9 / 1 000 000|X-linked recessive|Infancy|305100 +1810 1810|AD-HED
Autosomal dominant anhidrotic ectodermal dysplasia|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|129490 614940 +1811 1811|-|<1 / 1 000 000|Autosomal recessive|Childhood|601319 +1812 1812|-|Unknown|X-linked recessive|Antenatal
Neonatal|225040 +181368 181368|-|-|-|-| +181371 181371|Rare insulin-dependent diabetes mellitus|-|-|-| +181376 181376|Rare insulin-independent diabetes mellitus|-|-|-| +181381 181381|-|-|-|-| +181384 181384|-|-|-|-| +181387 181387|Rare disorder with secondary hypogonadism|-|-|-| +181390 181390|-|-|-|-| +181393 181393|GHIS
Short stature due to a defect in growth hormone receptor or post-receptor pathway|-|-|-| +181396 181396|-|-|-|-| +181399 181399|-|-|-|-| +181402 181402|-|-|-|-| +181405 181405|-|-|-|-| +181408 181408|-|-|-|-| +181412 181412|-|-|-|-| +181415 181415|Rare primary aldosteronism|-|-|-| +181419 181419|-|-|-|-| +181422 181422|-|-|-|-| +181425 181425|-|Unknown|Autosomal recessive|All ages| +181428 181428|-|-|-|-| +181431 181431|-|-|-|-| +181437 181437|-|-|-|-| +181441 181441|Rare disorder with primary hypogonadism|-|-|-| +1816 1816|Leukomelanoderma-intellectual disability-hypotrichosis syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|246500 +1818 1818|-|-|-|-|129510 +1819 1819|-|<1 / 1 000 000|Autosomal dominant|Neonatal| +182 182|Chromoblastomycosis|-|-|-| +182040 182040|-|-|-|-| +182043 182043|-|-|-|-| +182047 182047|-|-|-|-| +182050 182050|MYH9-RD
MYH9-related disorder
MYH9-related syndrome
MYH9-related syndromic thrombocytopenia|1-9 / 1 000 000|Autosomal dominant|Neonatal
Infancy
Childhood
Adolescent
Adult|600208 +182054 182054|-|-|-|-| +182058 182058|-|-|-|-| +182061 182061|-|-|-|-| +182064 182064|-|-|-|-| +182067 182067|Glioma|1-5 / 10 000|-|-|137800 607248 613028 613029 613030 613031 613032 613033 +182070 182070|-|-|-|-| +182073 182073|-|-|-|-| +182076 182076|-|-|-|-| +182079 182079|-|-|-|-| +182083 182083|-|-|-|-| +182086 182086|-|-|-|-| +182090 182090|PAH|1-9 / 100 000|Autosomal dominant
or Not applicable|All ages| +182095 182095|ILD|-|-|-| +182098 182098|-|-|-|-| +182101 182101|-|-|-|-| +182104 182104|CTD-ILD
Secondary ILD in childhood and adulthood associated with a connective tissue disease|-|-|-| +182108 182108|-|-|-|-| +182111 182111|-|-|-|-| +182114 182114|-|-|-|-| +182117 182117|-|-|-|-| +182121 182121|-|-|-|-| +182124 182124|-|-|-|-| +182127 182127|-|-|-|-| +182130 182130|-|6-9 / 10 000|-|-| +1822 1822|Trevor disease|-|Autosomal dominant|-|127800 +182214 182214|-|-|-|-| +182222 182222|-|-|-|-| +182228 182228|-|-|-|-| +182231 182231|-|-|-|-| +1824 1824|Epiphyseal dysplasia-microcephaly-nystagmus syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|226960 +1825 1825|Finucane-Kurtz-Scott syndrome|-|-|-| +1826 1826|-|<1 / 1 000 000|X-linked dominant
or Autosomal dominant|Neonatal|305620 617137 +1827 1827|Toriello syndrome|<1 / 1 000 000|Autosomal dominant|Antenatal
Neonatal|603671 +183 183|Churg-Strauss syndrome
EGPA
Granulomatous allergic angiitis|1-9 / 100 000|Not applicable|Adolescent
Adult
Elderly| +1830 1830|Schimke syndrome
Spondyloepiphyseal dysplasia-nephrotic syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|242900 +1832 1832|Raine syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|259775 +1834 1834|Blastogenesis defect
Russell-Weaver-Bull syndrome|-|-|-| +183422 183422|-|1-5 / 10 000|Autosomal dominant
or Autosomal recessive|All ages| +183426 183426|-|-|-|-| +183435 183435|Genetic ichthyosis|-|-|-| +183438 183438|-|-|-|-| +183441 183441|-|-|-|-| +183444 183444|-|-|-|-| +183447 183447|-|-|-|-| +183450 183450|-|-|-|-| +183454 183454|-|-|-|-| +183460 183460|-|-|-|-| +183463 183463|-|-|-|-| +183466 183466|-|-|-|-| +183469 183469|-|-|-|-| +183472 183472|-|-|-|-| +183478 183478|-|-|-|-| +183481 183481|-|-|-|-| +183484 183484|-|-|-|-| +183487 183487|-|-|-|-| +183490 183490|Genetic skin photosensitivity
Photogenodermatosis
Photogénodermatose|-|-|-| +183494 183494|-|-|-|-| +183497 183497|-|-|-|-| +183500 183500|-|-|-|-| +183503 183503|-|-|-|-| +183506 183506|-|-|-|-| +183509 183509|-|-|-|-| +183512 183512|-|-|-|-| +183515 183515|-|-|-|-| +183518 183518|-|Unknown|-|-| +183521 183521|-|-|-|-| +183524 183524|-|-|-|-| +183527 183527|-|-|-|-| +183530 183530|-|-|-|-| +183533 183533|-|-|-|-| +183536 183536|-|-|-|-| +183539 183539|-|-|-|-| +183542 183542|-|-|-|-| +183545 183545|-|-|-|-| +183548 183548|-|-|-|-| +183554 183554|-|-|-|-| +183557 183557|-|-|-|-| +183570 183570|-|-|-|-| +183573 183573|-|-|-|-| +183576 183576|-|-|-|-| +183580 183580|-|-|-|-| +183583 183583|-|-|-|-| +183586 183586|-|-|-|-| +183589 183589|-|-|-|-| +183592 183592|-|-|-|-| +183595 183595|-|-|-|-| +183598 183598|-|-|-|-| +1836 1836|Kantaputra mesomelic dysplasia
MDK
Mesomelic dysplasia, Thai type|<1 / 1 000 000|Autosomal dominant|Neonatal|156232 613681 +183601 183601|-|-|-|-| +183607 183607|-|-|-|-| +183616 183616|-|-|-|-| +183619 183619|-|-|-|-| +183622 183622|-|-|-|-| +183625 183625|-|-|-|-| +183628 183628|-|-|-|-| +183631 183631|-|-|-|-| +183634 183634|-|-|-|-| +183637 183637|-|-|-|-| +183643 183643|-|-|-|-| +183651 183651|-|-|-|-| +183654 183654|-|-|-|-| +183660 183660|SCID|Unknown|Autosomal recessive
or X-linked recessive|Infancy
Neonatal| +183663 183663|HIGM with susceptibility to opportunistic infections|-|-|-|308230 606843 +183666 183666|HIGM without susceptibility to opportunistic infections|-|-|-|605258 608106 608184 +183669 183669|-|1-9 / 1 000 000|-|-| +183675 183675|IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency|Unknown|Unknown|Childhood|614102 +183678 183678|HPS2
Hermansky-Pudlak syndrome type 2|<1 / 1 000 000|Autosomal recessive|-|608233 +183681 183681|-|-|-|-| +1837 1837|Rosenberg-Lohr syndrome|-|-|-|191420 +183707 183707|-|<1 / 1 000 000|Unknown|Infancy
Neonatal|608203 +183710 183710|-|-|-|-| +183713 183713|MyD88 deficiency|Unknown|Autosomal recessive|Childhood|612260 +183716 183716|-|-|-|-| +183731 183731|-|-|-|-| +183734 183734|-|-|-|-| +183757 183757|-|-|-|-| +183763 183763|-|-|-|-| +183770 183770|-|-|-|-| +1839 1839|Urban-Schosser-Spohn syndrome|Unknown|Autosomal dominant|Childhood|158310 +184 184|CRBM|Unknown|Autosomal dominant
or Autosomal recessive
or Not applicable|Childhood|118400 +1842 1842|Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|211120 +1844 1844|-|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal| +1848 1848|-|Unknown|Autosomal recessive|Antenatal
Neonatal| +1849 1849|-|-|-|-|600989 +185 185|Congenital pulmonary venolobar syndrome
Epibronchial right pulmonary vein syndrome
Halasz syndrome
Hypogenetic lung syndrome|Unknown|-|Infancy
Neonatal| +1851 1851|MCDK
Multicystic renal dysplasia|-|-|-| +1852 1852|-|-|-|-|312550 +1855 1855|SPENCD
Spondyloenchondromatosis
Spondylometaphyseal dysplasia with enchondromatous changes|<1 / 1 000 000|Autosomal recessive|Childhood|271550 +1856 1856|-|<1 / 1 000 000|Autosomal dominant|Neonatal
Infancy|271700 +1858 1858|Gurrieri-Sammito-Bellussi syndrome|-|-|-|601187 +186 186|Hanot syndrome|1-5 / 10 000|Unknown|Adolescent
Adult
Elderly|109720 613007 613008 614220 614221 +1860 1860|TD1
Thanatophoric dwarfism type 1|Unknown|Autosomal dominant
or Not applicable|Antenatal
Neonatal|187600 +1861 1861|-|-|-|-|273730 +1864 1864|-|Unknown|Not applicable|Childhood|314400 +1865 1865|-|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|224410 +1866 1866|-|1-5 / 10 000|Autosomal dominant|Adult| +1867 1867|-|<1 / 1 000 000|X-linked recessive|Neonatal|302000 +187 187|-|Unknown|Autosomal recessive|Neonatal
Adult| +1871 1871|Cone dystrophy|Unknown|Autosomal recessive
or Autosomal dominant|-|180020 300085 304030 602093 613093 +1872 1872|-|1-9 / 100 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Childhood|120970 300476 300834 303700 304020 600624 600977 601777 602093 603649 604116 604393 605549 608194 610283 610381 610478 612657 612775 613660 614500 615163 615374 615860 615973 616502 +1873 1873|Cone rod dystrophy-amelogenesis imperfecta syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|217080 +1875 1875|Bassoe syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|254000 +1876 1876|Visceral myopathy-familial external ophthalmoplegia syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|277320 +1877 1877|-|-|-|-| +1878 1878|LGMD2H
Limb-girdle muscular dystrophy due to TRIM32 deficiency
Sarcotubular myopathy|Unknown|Autosomal recessive|Adolescent
Adult
Childhood|254110 +1879 1879|MSBD syndrome
Mixed sclerosing bone dystrophy|<1 / 1 000 000|Autosomal dominant|All ages| +188 188|Capillary hyperpermeability syndrome
Capillary leak syndrome
Clarkson disease
Idiopathic capillary leak syndrome
SCLS|<1 / 1 000 000|Not applicable|Adult| +1880 1880|Ebstein anomaly of the tricuspid valve|1-9 / 100 000|Autosomal dominant
or Not applicable|All ages|224700 +1882 1882|ANOTHER syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|225050 +1883 1883|-|Unknown|Autosomal recessive|Childhood|224800 +1884 1884|Noble-Bass-Sherman syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +1885 1885|Ectopia lentis syndrome
Familial ectopia lentis|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|All ages|129600 225100 225200 +189 189|Clouston syndrome|1-9 / 100 000|Autosomal dominant|Childhood|129500 +1891 1891|Jancar syndrome|<1 / 1 000 000|-|Neonatal
Infancy|246555 +1892 1892|-|<1 / 1 000 000|-|-|225290 +1894 1894|Kasznica-Carlson-Coppedge syndrome|-|-|-| +189427 189427|Primary bilateral macronodular adrenal hyperplasia|<1 / 1 000 000|Autosomal dominant
or Not applicable|All ages|219080 615954 +189439 189439|PPNAD|<1 / 1 000 000|Autosomal dominant|All ages|610475 610489 614190 615830 +189466 189466|-|-|Autosomal dominant
or Autosomal recessive|-|146200 +1895 1895|Typus Edinburgensis|<1 / 1 000 000|Unknown|Neonatal|129850 +1896 1896|Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome|1-9 / 100 000|Autosomal dominant|Antenatal
Neonatal|129900 604292 +1897 1897|Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|225280 +1899 1899|EDS VII
Ehlers-Danlos syndrome type 7
Ehlers-Danlos syndrome, arthrochalasia type|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|130060 +190 190|Congenital retinal telangiectasia
Leber miliary aneurysm|Unknown|Not applicable|Childhood|300216 +1900 1900|EDS VIA
EDS, kyphoscoliotic type
EDS, oculoscoliotic type
Ehlers-Danlos syndrome type 6A
Ehlers-Danlos syndrome, oculoscoliotic type|Unknown|Autosomal recessive|Infancy
Neonatal|225400 +1901 1901|EDS VIIC
Ehlers-Danlos syndrome type 7C|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|225410 +1902 1902|-|<1 / 1 000 000|-|All ages| +1906 1906|Fetal valproic acid syndrome|Unknown|Not applicable|Antenatal
Neonatal|609442 +1908 1908|Aminopterin embryopathy syndrome
Fetal aminopterin syndrome|<1 / 1 000 000|Not applicable|Antenatal
Neonatal| +1909 1909|Fetal indomethacin syndrome|Unknown|Not applicable|Antenatal
Neonatal| +191 191|-|Unknown|Autosomal recessive|All ages|133540 214150 216400 216411 278780 610756 610758 616570 +1910 1910|-|Unknown|Not applicable|Antenatal
Neonatal|228355 +1911 1911|Fetal cocaine syndrome|Unknown|Not applicable|Neonatal
Antenatal| +1912 1912|Fetal dihydantoin syndrome
Phenytoin embryofetopathy|Unknown|Not applicable|Neonatal
Antenatal| +1913 1913|-|Unknown|Not applicable|Antenatal
Neonatal| +1914 1914|Coumarin embryopathy
Fetal warfarin syndrome
Vitamin K antagonists embryofetopathy|Unknown|Not applicable|Neonatal
Antenatal| +1915 1915|ARBD
ARND
Alcohol-related birth defects
Alcohol-related neurodevelopmental disorder
FAS
FASD
Fetal alcohol spectrum disorders|Unknown|Not applicable|Neonatal
Antenatal| +1916 1916|DES embryofetopathy
DES syndrome
Diethylstilbestrol embryofetopathy
Distilbene embryofetopathy|Unknown|Not applicable|All ages| +1917 1917|Methyl mercury antenatal infection
Minamata disease|Unknown|Not applicable|Neonatal
Antenatal| +1918 1918|Minoxidil antenatal infection|Unknown|Not applicable|Antenatal
Neonatal| +1919 1919|-|Unknown|Not applicable|Neonatal
Antenatal| +192 192|CLS|1-9 / 100 000|X-linked dominant|Neonatal|303600 +1920 1920|-|Unknown|Not applicable|Neonatal
Antenatal| +1923 1923|Carbimazole embryofetopathy|<1 / 1 000 000|Not applicable|Neonatal
Antenatal| +1926 1926|-|Unknown|Not applicable|Neonatal
Antenatal|601759 +1927 1927|Hand and foot deformity-flat facies syndrome|<1 / 1 000 000|-|Neonatal
Infancy|139750 +1928 1928|Congenital lobar hyperinflation
Infantile lobar hyperinflation|1-9 / 100 000|Not applicable|All ages
Antenatal
Neonatal
Infancy
Childhood
Adult|130710 +1929 1929|Rasmussen syndrome|Unknown|Not applicable|Childhood| +193 193|-|Unknown|Autosomal recessive|Infancy
Neonatal|216550 +1930 1930|HSV encephalitis
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis|Unknown|Not applicable
or Multigenic/multifactorial|All ages|610551 613002 614849 614850 616532 +1931 1931|Anterior encephalocele|-|-|-| +1933 1933|Booth-Haworth-Dilling syndrome
Mitochondrial encephalomyopathy-aminoacidopathy syndrome
mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria|<1 / 1 000 000|Mitochondrial inheritance|Neonatal|612073 +1934 1934|EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive
or Not applicable|Neonatal|300672 308350 609304 612164 613402 613721 615473 616341 +1935 1935|Early myoclonic encephalopathy with suppression-bursts|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|609304 616341 617105 +1937 1937|Short stature-locking fingers syndrome|<1 / 1 000 000|Autosomal dominant|Antenatal
Neonatal|135950 +194 194|-|1-9 / 100 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive
or Not applicable|Neonatal|120200 216820 +1940 1940|-|<1 / 1 000 000|-|Neonatal| +1941 1941|JAE|1-9 / 100 000|Multigenic/multifactorial
or Unknown|Adolescent|607631 +1942 1942|Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood|Unknown|Unknown|Childhood|615369 616421 +1943 1943|-|<1 / 1 000 000|Unknown|Childhood| +1945 1945|BECRS
BECTS
BRE
Benign epilepsy of childhood with centrotemporal spikes
Benign familial epilepsy of childhood with rolandic spikes
Benign rolandic epilepsy
Centrotemporal epilepsy|Unknown|Autosomal dominant|Childhood|117100 245570 +1946 1946|Epilepsy-dementia-amelogenesis imperfecta syndrome
Kohlschutter-Tonz syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy
Childhood|226750 +1947 1947|CLN8 disease, Northern epilepsy variant
NCL, Northern epilepsy variant
Neuronal ceroid lipofuscinosis, Northern epilepsy variant
Northern epilepsy|Unknown|Autosomal recessive|Childhood|610003 +1948 1948|Battaglia-Neri syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|601352 +1949 1949|BFNS
Benign familial neonatal convulsions
Benign familial neonatal seizures|Unknown|Autosomal dominant|Neonatal|121200 121201 269720 608217 +195 195|CES|1-9 / 100 000|Not applicable|Neonatal
Antenatal|115470 +1951 1951|-|<1 / 1 000 000|Autosomal recessive|Childhood|226850 +1952 1952|Epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|167220 +1954 1954|-|<1 / 1 000 000|Autosomal recessive|Neonatal|227090 +1955 1955|Erythrokeratodermia with ataxia
SCA34
Spinocerebellar ataxia and erythrokeratodermia|<1 / 1 000 000|Autosomal dominant|Neonatal|133190 +1956 1956|-|Unknown|Autosomal dominant
or Not applicable|Childhood| +1957 1957|Olfactory neuroblastoma|<1 / 1 000 000|Not applicable|Adult
Elderly| +1959 1959|Autoimmune hemolytic anemia and autoimmune thrombocytopenia
Immune pancytopenia|1-9 / 1 000 000|Not applicable|Childhood
Adult| +1962 1962|-|<1 / 1 000 000|Unknown|Neonatal|133690 +1964 1964|Char-Douglas-Dungan syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal|133750 +1968 1968|Blepharophimosis-telecanthus-microstomia syndrome
Simosa-Penchaszadeh-Bustos syndrome|<1 / 1 000 000|Unknown|Neonatal|182150 +1969 1969|FACES syndrome
Friedman-Goodman syndrome|-|Unknown|-| +1970 1970|-|<1 / 1 000 000|Autosomal recessive|Neonatal|220219 +1972 1972|-|<1 / 1 000 000|Autosomal recessive|Neonatal|227270 +1973 1973|Eastman-Bixler syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|227280 +1974 1974|Aarskog-like syndrome
Facio-digito-genital syndrome, Kuwait type
Teebi-Naguib-Alawadi syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|227330 +1979 1979|Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency
Hoepffner-Dreyer-Reimers syndrome
Werner-like syndrome due to combined growth factor deficiency|<1 / 1 000 000|Unknown|Neonatal|233805 +198 198|EDS IX
Ehlers-Danlos syndrome type 9
Ehlers-Danlos syndrome type IX
X-linked cutis laxa|<1 / 1 000 000|X-linked recessive|All ages|304150 +1980 1980|BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification|Unknown|Autosomal dominant
or Not applicable|Adult|213600 606656 615007 615483 616413 +1986 1986|Bifid femur-monodactylous ectrodactyly syndrome|Unknown|Autosomal dominant
or Autosomal recessive|Neonatal|228250 +1987 1987|Congenital short femur
Femoral intercalary meromelia|-|-|-| +1988 1988|FFS
FHUFS
Femoral hypoplasia-unusual facies syndrome|<1 / 1 000 000|Not applicable|Neonatal
Antenatal|134780 +199 199|Brachmann-de Lange syndrome|1-9 / 100 000|Autosomal dominant
or X-linked recessive
or Not applicable|Neonatal
Antenatal|122470 300590 300882 610759 614701 +1991 1991|Tessier cleft number 1,2|-|-|-| +199241 199241|-|Unknown|Autosomal dominant
or Autosomal recessive
or Not applicable|All ages|234810 +199244 199244|-|-|-|-| +199247 199247|Transcortin deficiency|<1 / 1 000 000|Semi-dominant|-|611489 +199251 199251|Plantar fibromatosis|-|-|Adult| +199257 199257|-|-|-|-| +199260 199260|Juvenile aponeurotic fibromatosis
Keasby tumor|-|-|-| +199267 199267|Inclusion body fibromatosis
Recurring digital fibrous tumor of childhood
Reye tumor|<1 / 1 000 000|-|Infancy
Neonatal| +199276 199276|-|-|-|-|151900 +199279 199279|-|-|-|-|206550 +199282 199282|Progressive isolated segmental anhidrosis|-|Not applicable|All ages| +199285 199285|-|<1 / 1 000 000|Autosomal dominant|-|115300 277350 +199293 199293|-|<1 / 1 000 000|-|Infancy
Neonatal| +199296 199296|-|-|Autosomal recessive|Neonatal|201400 +199299 199299|-|-|Not applicable|-| +1993 1993|Median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome|<1 / 1 000 000|Unknown|Neonatal|155145 +199302 199302|-|1-5 / 10 000|Multigenic/multifactorial|Infancy
Neonatal|119530 129400 225060 600757 602966 608371 608874 610361 612858 +199306 199306|Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP|1-5 / 10 000|Multigenic/multifactorial|Infancy
Neonatal|119530 129400 225060 600625 600757 602966 608371 608864 608874 610361 612858 613705 616788 +199310 199310|46,XX/46,XY chimerism|-|Not applicable
or Unknown|Infancy
Neonatal| +199315 199315|-|-|Autosomal dominant|Infancy
Neonatal|119800 613618 +199318 199318|Del(15)(q13.3)
Monosomy 15q13.3|Unknown|Autosomal dominant
or Not applicable|Childhood|612001 +199323 199323|-|-|-|-| +199326 199326|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +199329 199329|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +199332 199332|ECO syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|612651 +199337 199337|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|612714 +199340 199340|-|<1 / 1 000 000|Autosomal dominant|Adolescent
Childhood|612954 +199343 199343|SeSAME syndrome
Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|612780 +199348 199348|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|607483 +199351 199351|Dystonia-parkinsonism, Paisan-Ruiz type
PARK14
PLA2G6-related dystonia-parkinsonism|<1 / 1 000 000|Autosomal recessive|Adolescent
Adult|612953 +199354 199354|Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Maeda syndrome|Unknown|Autosomal recessive|Adolescent
Adult|600142 +1995 1995|Ausems-Wittebol Post-Hennekam syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal| +199627 199627|-|-|-|-| +199630 199630|-|-|-|-| +199633 199633|Brain malformation|-|-|-| +199639 199639|-|-|-|-| +199642 199642|-|-|-|-| +199647 199647|-|-|-|-| +1997 1997|BCD syndrome
Blepharocheilodontic syndrome
Clefting-ectropion-conical teeth syndrome
Ectropion inferior-cleft lip and or palate syndrome
Elsching syndrome
Lagophthalmia-cleft lip and palate syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal|119580 +20 20|3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HMG-CoA lyase deficiency
Hydroxymethylglutaric aciduria|Unknown|Autosomal recessive|Infancy
Neonatal|246450 +200037 200037|-|-|-|-| +2001 2001|McPherson-Clemens syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|601165 +2003 2003|Lowry-Yong syndrome|<1 / 1 000 000|Unknown|Neonatal
Infancy| +2004 2004|LC
LTEC
Laryngo-tracheo-esophageal diastema|Unknown|Autosomal dominant
or Not applicable|Neonatal
Antenatal|215800 +200418 200418|-|<1 / 1 000 000|Autosomal recessive|-|610984 +200421 200421|-|-|-|-|609814 +2005 2005|Novak syndrome|-|-|-| +2006 2006|Median cleft lower facial stage|<1 / 1 000 000|Not applicable|Neonatal| +2007 2007|-|<1 / 1 000 000|Autosomal recessive|Neonatal|203000 +2008 2008|ACFS
CCGE syndrome
Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|600460 +201 201|Cowden disease
Multiple hamartoma syndrome|1-9 / 1 000 000|Autosomal dominant|All ages|158350 612359 615106 615107 615108 615109 616858 +2010 2010|-|<1 / 1 000 000|Autosomal recessive|Neonatal|216300 +2013 2013|Say-Barber-Hobbs syndrome|<1 / 1 000 000|-|Neonatal
Infancy|181180 +2014 2014|-|1-5 / 10 000|Multigenic/multifactorial
or Not applicable|Neonatal
Antenatal|119540 +2015 2015|Mathieu-De Broca-Bony syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +2016 2016|CPLS syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal
Antenatal|119550 +2017 2017|Cleft sternum
Sternum bifidum|1-9 / 100 000|Not applicable|Neonatal
Antenatal| +2019 2019|FFU complex
Femur-fibula-ulna dysostosis
Femur-fibula-ulna syndrome
PFFD|1-9 / 100 000|Not applicable|Neonatal|228200 +202 202|Alopecia-deafness-hypogonadism syndrome|Unknown|Autosomal recessive|No data available| +2020 2020|CFTDM|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Infancy
Neonatal|255310 300580 +2021 2021|-|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Neonatal|228520 614524 +2022 2022|-|Unknown|Autosomal recessive
or X-linked recessive
or X-linked dominant
or Not applicable|Neonatal|226000 +2023 2023|UPS|1-9 / 100 000|Not applicable|Childhood
Adolescent
Adult
Elderly| +2024 2024|Autosomal dominant gingival fibromatosis
Autosomal dominant gingival hyperplasia
Hereditary gingival hyperplasia|Unknown|Autosomal dominant|All ages|135300 605544 609955 611010 +2025 2025|-|<1 / 1 000 000|Autosomal recessive|Neonatal|228560 +2026 2026|CGHT
Congenital generalized hypertrichosis terminalis
Hirsutism-congenital gingival hyperplasia syndrome
Hypertrichosis with or without gingival hyperplasia|Unknown|Autosomal dominant|Infancy
Neonatal|135400 +2027 2027|Jones syndrome|<1 / 1 000 000|Autosomal dominant|Adult|135550 +2028 2028|Murray-Puretic-Drescher syndrome
Puretic syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|228600 +2029 2029|Jaffe-Campanacci syndrome|<1 / 1 000 000|No data available|Neonatal
Infancy| +202940 202940|-|-|-|-| +202948 202948|-|-|-|-| +2030 2030|-|Unknown|-|All ages|117600 +2031 2031|Thompson-Baraitser syndrome|<1 / 1 000 000|-|Neonatal
Infancy|213010 +2032 2032|CFA
Cryptogenic fibrosing alveolitis
UIP
Usual interstitial pneumonia|1-5 / 10 000|Multigenic/multifactorial|Adult|178500 616371 616373 +2033 2033|-|-|-|-| +2034 2034|-|Unknown|Not applicable|All ages| +2035 2035|-|<1 / 1 000 000|Not applicable|All ages| +2036 2036|Finlay-Marks syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|181270 +2037 2037|Congenital aortopulmonary artery fistula
Congenital aortopulmonary septal defect|-|-|-| +2038 2038|PAVM|Unknown|Not applicable|Adult|265140 +2039 2039|-|-|-|-| +204 204|Sporadic CJD|1-9 / 1 000 000|Not applicable|Adult
Elderly|123400 +2040 2040|-|<1 / 1 000 000|Not applicable|Childhood| +2041 2041|Coronaro-cardiac fistula
Coronary arterial malformations|Unknown|Not applicable|Adult| +2042 2042|-|-|-|-| +2044 2044|-|<1 / 1 000 000|Autosomal dominant|Neonatal|136140 +2045 2045|Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome|-|-|-| +2047 2047|-|<1 / 1 000 000|Autosomal dominant|Childhood|136300 +2048 2048|Bilateral anterior opercular syndrome
Facio-pharyngo-glosso-masticatory diplegia|<1 / 1 000 000|Not applicable|All ages| +205 205|Bilirubin uridinediphosphate glucuronosyltransferase deficiency
Bilirubin-UGT deficiency
Hereditary unconjugated hyperbilirubinemia
UGT deficiency|1-9 / 100 000|Autosomal recessive|Neonatal|218800 606785 +2050 2050|Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|<1 / 1 000 000|Not applicable
or Autosomal dominant
or Autosomal recessive|Neonatal|112240 616294 +2052 2052|Cryptophthalmos-syndactyly syndrome|Unknown|Autosomal recessive|Neonatal
Antenatal|219000 +2053 2053|Craniocarpotarsal dysplasia
Craniocarpotarsal dystrophy
Distal arthrogryposis type 2A
Whistling face syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Neonatal|193700 277720 +2054 2054|Aseptic necrosis of the tarsal bone
Osteochondrosis of the tarsal bone|Unknown|Not applicable|All ages| +2056 2056|Fructokinase deficiency
Ketohexokinase deficiency|Unknown|Autosomal recessive|All ages|229800 +2057 2057|Frydman-Cohen-Karmon syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|210745 +2058 2058|-|-|-|-| +2059 2059|Diaphragmatic hernia-abnormal face-distal limb anomalies syndrome|Unknown|Autosomal recessive|Antenatal
Neonatal
Infancy|229850 +2060 2060|-|<1 / 1 000 000|-|Neonatal| +2062 2062|Copenhagen syndrome|<1 / 1 000 000|Not applicable|Childhood| +2063 2063|SGFLD syndrome|<1 / 1 000 000|-|Antenatal
Neonatal|183300 +2064 2064|Faulk-Epstein-Jones syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|192800 +206428 206428|HPRT deficiency
HPRT1 deficiency
Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency|Unknown|X-linked recessive|All ages| +206436 206436|Krabbe disease, classic form
Krabbe disease, early-onset|-|-|-| +206443 206443|Krabbe disease, late-onset|-|-|-| +206448 206448|-|-|-|-| +206470 206470|-|-|-|-| +206473 206473|Borderline ovarian epithelial tumor
Ovarian tumor of low malignant potential|-|-|-| +206484 206484|-|-|-|Adolescent|424500 +206489 206489|Vaginal germ cell cancer|-|-|-| +206492 206492|-|-|-|-| +2065 2065|Galloway syndrome
Microcephaly-hiatus hernia-nephrotic syndrome
Nephrosis-neuronal dysmigration syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal
Childhood|251300 +206538 206538|Non-dysgerminomatous germ cell cancer of ovary|Unknown|Unknown|Adolescent| +206546 206546|-|Unknown|X-linked dominant|Adult| +206549 206549|LGMD2L|<1 / 1 000 000|Autosomal recessive|Adult|611307 +206554 206554|LGMD2M|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood|611588 +206559 206559|LGMD2N|<1 / 1 000 000|Autosomal recessive|Childhood|613158 +206564 206564|LGMD2O|<1 / 1 000 000|Autosomal recessive|Childhood
Adolescent|613157 +206569 206569|Anti-HMG-CoA myopathy
Anti-SRP myopathy
Autoimmune necrotizing myositis
Immune-mediated necrotizing myopathy
NAM|Unknown|Not applicable|Adult
Elderly| +206572 206572|Adult-onset overlap myositis|Unknown|Not applicable|Adult| +206575 206575|Acquired rippling muscle disease
Immune-mediated rippling muscle disease|-|Not applicable|-| +206580 206580|Autosomal recessive distal spinal muscular atrophy type 4
Distal spinal muscular atrophy type 4
dSMA4|<1 / 1 000 000|Autosomal recessive|Childhood|611067 +206583 206583|APBD|<1 / 1 000 000|Autosomal recessive|Adult|263570 +206586 206586|-|-|-|-| +206594 206594|Subacute inflammatory demyelinating polyradiculoneuropathy|Unknown|-|-| +206599 206599|-|-|-|-| +2066 2066|GABA transaminase deficiency|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|613163 +206613 206613|-|-|-|-| +206634 206634|-|-|-|-| +206638 206638|-|-|-|-| +206644 206644|-|-|-|-| +206647 206647|-|1-9 / 100 000|-|-| +206650 206650|-|-|-|-| +206653 206653|-|-|-|-| +206656 206656|-|-|-|-| +206659 206659|-|-|-|-| +206662 206662|-|-|-|-| +2067 2067|Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|230740 +206701 206701|-|-|-|-| +206704 206704|-|-|-|-| +206707 206707|-|-|-|-| +206710 206710|-|-|-|-| +2069 2069|-|-|-|-|137270 +206953 206953|Lipid storage myopathy|-|-|-| +206959 206959|Glycogen storage myopathy|-|-|-| +206966 206966|-|-|-|-| +206970 206970|-|-|-|-| +206973 206973|-|-|-|-| +206976 206976|-|-|-|-| +206979 206979|-|-|-|-| +206982 206982|-|-|-|-| +206985 206985|-|-|-|-| +206988 206988|-|-|-|-| +206991 206991|-|-|-|-| +206994 206994|-|-|-|-| +206997 206997|-|-|-|-| +207 207|Crouzon craniofacial dysostosis|1-9 / 1 000 000|Autosomal dominant|Infancy
Neonatal|123500 +2070 2070|EGE
Eosinophilic enteritis
Eosinophilic gastroenterocolitis|1-9 / 100 000|Not applicable|All ages| +207000 207000|-|-|-|-| +207003 207003|-|-|-|-| +207006 207006|-|-|-|-| +207009 207009|-|-|-|-| +207012 207012|-|-|-|-| +207015 207015|-|-|-|-| +207018 207018|-|-|-|-| +207021 207021|-|-|-|-| +207025 207025|-|-|-|-| +207028 207028|-|-|-|-| +207031 207031|-|-|-|-| +207038 207038|Acute and subacute inflammatory demyelinating polyradiculoneuropathy|-|-|-| +207046 207046|-|-|-|-| +207049 207049|-|-|-|-| +207052 207052|Sarcoglycanopathy|-|-|-| +207060 207060|-|-|-|-| +207063 207063|-|-|-|-| +207067 207067|-|-|-|-| +207070 207070|-|-|-|-| +207073 207073|Dysferlinopathy|-|-|-| +207078 207078|Caveolinopathy|-|-|-| +207085 207085|Dystrophinopathy|-|-|-| +207090 207090|-|-|-|-| +207094 207094|-|-|-|-| +207098 207098|Integrinopathy|-|-|-| +207101 207101|-|-|-|-| +207104 207104|-|-|-|-| +207107 207107|-|-|-|-| +207110 207110|-|-|-|-| +207113 207113|Secondary alpha-dystroglycanopathy
Secondary dystroglycanopathy|-|-|-| +207119 207119|-|-|-|-| +207122 207122|-|-|-|-| +2072 2072|Cardiovascular Gaucher disease
Gaucher disease type 3C
Gaucher-like disease|<1 / 1 000 000|Autosomal recessive|Childhood|231005 +2073 2073|Gélineau disease|1-5 / 10 000|Unknown|Adolescent
Childhood
Adult|161400 605841 609039 612417 612851 614223 614250 +2074 2074|Spinocerebellar ataxia-amyotrophy-deafness syndrome|<1 / 1 000 000|Autosomal recessive|Adult| +2075 2075|Gardner-Silengo-Wachtel syndrome|<1 / 1 000 000|-|Antenatal
Neonatal|231060 +2076 2076|-|Unknown|X-linked recessive
or X-linked dominant|Childhood|300088 300423 300607 +2077 2077|-|<1 / 1 000 000|Autosomal recessive|Neonatal|231080 +2078 2078|-|<1 / 1 000 000|Autosomal recessive|Neonatal|231070 +2081 2081|Cramer-Niederdellmann syndrome|<1 / 1 000 000|Unknown|-| +2083 2083|MacDermot-Winter syndrome|<1 / 1 000 000|-|Neonatal
Antenatal|247990 +2084 2084|GEMSS syndrome|<1 / 1 000 000|Autosomal dominant|All ages|608328 +208441 208441|-|-|-|-|612691 +208444 208444|-|-|-|-|610031 +208447 208447|-|-|Autosomal recessive|-|614833 +2085 2085|-|<1 / 1 000 000|Unknown|No data available|137763 +208508 208508|ADCA2
ADCAII
Autosomal dominant cerebellar ataxia type 2|-|-|-| +208513 208513|Congenital nonprogressive spinocerebellar ataxia
SCA29|Unknown|Autosomal dominant|Neonatal
Infancy|117360 +208524 208524|-|-|-|-| +208593 208593|-|-|-|-| +208596 208596|-|-|-|-| +2086 2086|-|Unknown|Not applicable|All ages| +208600 208600|Cardiac papillary fibroelastoma|-|-|-| +208650 208650|CAPS
Cryopyrinopathy|-|Autosomal dominant
or Not applicable|Neonatal
Infancy
Childhood
Adolescent| +2088 2088|Bickel-Fanconi glycogenosis
Fanconi-Bickel disease
GSD due to GLUT2 deficiency
GSD type 11
GSD type XI
Glycogen storage disease type 11
Glycogen storage disease type XI
Glycogenosis due to GLUT2 deficiency|Unknown|Autosomal recessive|Infancy
Neonatal|227810 +2089 2089|GSD due to hepatic glycogen synthase deficiency
GSD type 0a
Glycogen storage disease due to liver glycogen synthase deficiency
Glycogen storage disease type 0a
Glycogenosis type 0a|<1 / 1 000 000|Autosomal recessive|Childhood|240600 +208974 208974|CADP|-|-|-| +208978 208978|-|-|-|-| +208981 208981|-|-|-|-| +208984 208984|Acquired sensory neuronopathy|-|-|-| +208989 208989|Non-paraneoplastic sensory neuronopathy|-|-|-| +208999 208999|Paraneoplastic sensory neuronopathy|-|-|-| +209 209|-|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive
or Not applicable|-| +2090 2090|Goniodysgenesis-intellectual disability-short stature syndrome|<1 / 1 000 000|-|Neonatal|138770 +209004 209004|-|-|-|-| +209007 209007|-|-|-|-| +209010 209010|-|-|-|-| +209013 209013|-|-|-|-| +209016 209016|-|-|-|-| +209019 209019|-|-|-|-| +209024 209024|Qualitative or quantitative defects of protein POMGNT1|-|-|-| +209027 209027|-|-|-|-| +209030 209030|-|-|-|-| +209033 209033|-|-|-|-| +209038 209038|-|-|-|-| +209041 209041|-|-|-|-| +209044 209044|-|-|-|-| +209047 209047|-|-|-|-| +209050 209050|-|-|-|-| +209053 209053|-|-|-|-| +209056 209056|-|-|-|-| +209059 209059|-|-|-|-| +2091 2091|Daneman-Davy-Mancer syndrome
Thyroid-renal-digital anomalies|<1 / 1 000 000|Autosomal dominant|Neonatal
Antenatal|138790 +209182 209182|-|-|-|-| +209185 209185|-|-|-|-| +209188 209188|-|-|-|-| +209193 209193|-|-|-|-| +209196 209196|-|-|-|-| +209199 209199|-|-|-|-| +2092 2092|Goltz syndrome
Goltz-Gorlin syndrome|<1 / 1 000 000|X-linked dominant|Neonatal|305600 +209203 209203|-|-|-|-| +209224 209224|-|-|-|-| +209335 209335|Finkel disease|1-9 / 1 000 000|Autosomal dominant|Adult|182980 +209341 209341|Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures
SMALED1|Unknown|Autosomal dominant|Childhood|158600 +209370 209370|Severe congenital encephalopathy due to MECP2 mutation|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300673 +2095 2095|Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome
Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome
Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome
GCM syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|233500 +2097 2097|-|<1 / 1 000 000|Unknown|Neonatal|138930 +2098 2098|Chondrodysplasia, Grebe type|Unknown|Autosomal recessive|Neonatal|200700 +209867 209867|-|<1 / 1 000 000|Autosomal dominant|Adult|609508 +209886 209886|FJHN type 1
Familial juvenile gouty nephropathy
Familial nephropathy with gout
UMOD-associated FJHN
UMOD-associated familial juvenile hyperuricemic nephropathy|Unknown|Autosomal dominant|All ages|162000 +2099 2099|Craniofacial and osseous defects-intellectual disability syndrome|<1 / 1 000 000|Unknown|Neonatal
Infancy| +209902 209902|-|<1 / 1 000 000|Semi-dominant|Adult| +209905 209905|Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|610978 +209908 209908|CAS
Developmental verbal dyspraxia
Speech and language disorder with orofacial dyspraxia
Speech-language disorder type 1|<1 / 1 000 000|Autosomal dominant|Childhood|602081 +209916 209916|-|1-9 / 1 000 000|Not applicable|Adult|612237 +209919 209919|Non-Wilsonian hepatic copper toxicosis of infancy and childhood|Unknown|Unknown|Childhood|215600 +209932 209932|Cone dystrophy with supernormal rod ERG
Cone dystrophy with supernormal rod electroretinogram
Cone dystrophy with supernormal scotopic electroretinogram|<1 / 1 000 000|Autosomal recessive|Childhood
Adolescent
Adult|610356 +209943 209943|Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome|<1 / 1 000 000|Not applicable|Childhood
Adolescent
Adult| +209951 209951|SPG18|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood|611225 +209956 209956|-|Unknown|Unknown|Adult| +209959 209959|Endophthalmitis phacoanaphylactica
Lens-induced endophthalmitis
Lens-induced iridocyclitis
Lens-induced uveitis
Phacoallergic endophthalmitis
Phacoantigenic endophthalmitis
Phako-anaphylactic endophthalmitis|Unknown|Not applicable|Adult| +209964 209964|-|Unknown|Not applicable|Adult| +209967 209967|-|<1 / 1 000 000|Autosomal dominant|Childhood|612656 +209970 209970|-|<1 / 1 000 000|Autosomal dominant|Childhood|611907 +209973 209973|Benign familial nocturnal alternating hemiplegia in childhood|<1 / 1 000 000|Unknown|Childhood
Infancy| +209978 209978|-|-|-|-| +209981 209981|Iron-refractory iron deficiency anemia|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|206200 +209989 209989|Non-papillary urothelial carcinoma|1-5 / 10 000|-|-| +210 210|-|Unknown|Not applicable|All ages| +2101 2101|Developmental delay-hypotonia-extremities hypertrophy syndrome|<1 / 1 000 000|-|Antenatal
Neonatal|233810 +210110 210110|Autosomal recessive intermediate osteopetrosis|Unknown|Autosomal recessive|Childhood|611497 +210115 210115|Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency
DIRA
Interleukin-1 receptor antagonist deficiency
OMPP|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|612852 +210122 210122|ACDMPV
Alveolar capillary dysplasia with misalignment of pulmonary veins
Alveolar capillary dysplasia with misalignment of pulmonary vessels|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|265380 +210128 210128|Encephalopathy due to urocanase deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|276880 +210133 210133|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +210136 210136|-|<1 / 1 000 000|Unknown|Adult| +210141 210141|Inherited congenital spastic quadriplegia
Spastic quadriplegic cerebral palsy|<1 / 1 000 000|Autosomal recessive
or Unknown|Infancy
Neonatal|603513 612900 617008 +210144 210144|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|612938 +210159 210159|Adult HCC|-|Not applicable|-| +210163 210163|-|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|612540 +2102 2102|GTPCH deficiency
Hyperphenylalaninemia due to GTP cyclohydrolase deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|233910 +210272 210272|Disembarkment syndrome
MdD
MdDS
Sickness of disembarkment|Unknown|Not applicable|All ages| +2103 2103|GBS
Guillain-Barré-Strohl syndrome|1-9 / 100 000|Multigenic/multifactorial|All ages| +2104 2104|Guízar Vázquez-Sánchez-Manzano syndrome|<1 / 1 000 000|Unknown|Neonatal
Infancy| +210548 210548|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|605309 +210571 210571|DYT16
Early-onset dystonia parkinsonism|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood|612067 +210576 210576|Congenital trismus|-|-|-| +210581 210581|-|-|-|-| +210584 210584|Spindle cell hemangioendothelioma|-|-|-| +210589 210589|-|-|-|-| +2107 2107|-|<1 / 1 000 000|Autosomal recessive|Neonatal|234250 +2108 2108|François dyscephalic syndrome
Oculomandibulofacial syndrome|Unknown|Unknown
or Not applicable|Neonatal
Infancy|234100 +2109 2109|Dennis-Fairhurst-Moore syndrome
Hallermann-Streiff-François syndrome, severe form
Severe Hallermann-Streiff-François syndrome|-|-|-| +211 211|Turban tumor syndrome|-|Autosomal dominant|-|132700 +2110 2110|Kleiner-Holmes syndrome|-|-|-|234280 +211017 211017|SCA30|<1 / 1 000 000|Autosomal dominant|Adult
Elderly|613371 +211037 211037|-|-|-|-| +211047 211047|Specific learning difficulty
Specific learning disorder|-|-|-| +211053 211053|Dysphasia|-|-|-| +211062 211062|-|1-9 / 100 000|-|-| +211067 211067|-|<1 / 1 000 000|Autosomal dominant|All ages|613855 +2111 2111|Graham-Boyle-Troxell syndrome|<1 / 1 000 000|Unknown|Infancy| +2112 2112|-|-|Unknown|Childhood| +211237 211237|-|-|-|-| +211240 211240|-|-|-|-| +211243 211243|-|-|-|-| +211247 211247|-|-|-|-| +211252 211252|-|-|-|-| +211255 211255|-|-|-|-| +211266 211266|-|-|-|-| +211277 211277|Hemangiolymphangioma|-|-|-| +2114 2114|BFHD
Beukes familial hip dysplasia
Cilliers-Beighton syndrome
Premature degenerative osteoarthropathy of the hip|<1 / 1 000 000|Autosomal dominant|Childhood|142669 +2115 2115|Cranio-facio-digito-genital syndrome|<1 / 1 000 000|-|Neonatal
Infancy|601095 +2116 2116|Aminoaciduria, Hartnup type
Hartnup disorder|1-9 / 100 000|Autosomal recessive|All ages|234500 +2117 2117|Holoprosencephaly-ectrodactyly-cleft lip palate syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|-|615465 +2118 2118|4-HPPD deficiency
4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
4-hydroxyphenylpyruvic acid dioxygenase deficiency|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|140350 +2119 2119|Hydrocephalus-endocardial fibroelastosis-cataract syndrome|<1 / 1 000 000|Unknown|Neonatal|600559 +212 212|Cystathionase deficiency
Cystathione gamma-lyase deficiency syndrome
Gamma-cystathionase deficiency|1-9 / 100 000|Autosomal recessive|All ages|219500 +2122 2122|-|Unknown|Not applicable|All ages| +2123 2123|-|<1 / 1 000 000|Not applicable|Neonatal| +2124 2124|-|-|-|-|140850 +2126 2126|-|Unknown|Not applicable|All ages|234820 +2128 2128|Hemi 3 syndrome
Hemicorporal hypertrophy
Isolated hemihypertrophy|-|-|-|235000 +213 213|Protein defect of cystin transport|1-9 / 100 000|Autosomal recessive|Infancy
Childhood
Adolescent
Adult|219750 219800 219900 +2130 2130|Longitudinal meromelia|1-9 / 100 000|Not applicable|Neonatal| +2131 2131|AHC|Unknown|Autosomal dominant
or Not applicable|Infancy|104290 614820 +2132 2132|-|-|Autosomal recessive|All ages| +2133 2133|-|Unknown|Autosomal recessive|All ages| +2134 2134|Atypical HUS
D-HUS
Hemolytic-uremic syndrome without diarrhea
aHUS|1-9 / 1 000 000|Autosomal dominant
or Autosomal recessive
or Not applicable|All ages|235400 609814 612922 612923 612924 612925 612926 615008 +2135 2135|Mastocytosis-short stature-hearing loss syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|248910 +213500 213500|Ovarian malignant tumor|1-5 / 10 000|-|-| +213504 213504|Ovarian adenocarcinoma|-|-|-| +213512 213512|MMMT of ovary
Ovarian carcinosarcoma
Ovarian malignant mixed epithelial mesenchymal tumor|-|-|Adult| +213517 213517|Familial ovarian malignant tumor|-|-|-| +213524 213524|-|-|Autosomal dominant|Adult| +213528 213528|-|-|-|-| +213531 213531|-|-|-|-| +213557 213557|Salivary gland type carcinoma of the breast|-|-|-| +213564 213564|Rare cancer of uterus
Rare malignant tumor of uterus
Rare uterine malignant tumor|-|-|-| +213569 213569|Rare malignant tumor of corpus uteri|-|-|-| +213574 213574|-|-|-|-| +213589 213589|Mixed epithelial and mesenchymal cancer of corpus uteri|-|-|-| +2136 2136|Lymphedema-lymphangiectasia-intellectual disability syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|235510 616006 +213600 213600|-|-|-|-| +213605 213605|-|-|-|-| +213610 213610|Mixed Müllerian cancer of corpus uteri|-|-|-| +213615 213615|-|-|-|-| +213620 213620|-|-|-|-| +213625 213625|-|-|-|-| +213630 213630|Peripheral neuroectodermal cancer of corpus uteri|-|-|-| +2137 2137|Autoimmune hepatitis|1-5 / 10 000|Not applicable|Adult| +213711 213711|Stromal sarcoma of the corpus uteri|-|-|-| +213716 213716|Endometrial squamous cell carcinoma|-|-|-| +213721 213721|Endometrial undifferentiated carcinoma|-|-|-| +213726 213726|Endometrial capillary carcinoma|-|-|-| +213731 213731|Poorly differentiated endocrine carcinoma of the endometrium|-|-|-| +213736 213736|Well-differentiated endocrine neoplasm of endometrium
Well-differentiated endocrine tumor of corpus uteri
Well-differentiated endocrine tumor of endometrium|-|-|-| +213741 213741|Endometrial adenoid cystic carcinoma|-|-|-| +213746 213746|Endometrial transitional cell carcinoma|-|-|-| +213751 213751|Germ cell cancer of corpus uteri|-|-|-| +213761 213761|Rare cervical cancer
Rare cervical malignant tumor
Rare malignant tumor of cervix uteri|-|-|-| +213767 213767|Cervical squamous cell carcinoma|-|-|-| +213772 213772|Cervical adenocarcinoma|-|-|-| +213777 213777|Poorly differentiated endocrine cervical carcinoma|-|-|-| +213782 213782|Cervical malignant mixed epithelial and mesenchymal tumor
Mixed epithelial and mesenchymal cancer of cervix uteri|-|-|-| +213787 213787|Cervical malignant Müllerian mixed tumor|-|-|-| +213792 213792|Cervical adenosarcoma|-|-|-| +213797 213797|Cervical malignant mesenchymal tumor
Cervical sarcoma
Malignant mesenchymal tumor of cervix uteri|-|-|-| +2138 2138|46,XX ovotesticular DSD
True hermaphroditism|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal|400045 +213802 213802|Cervical rhabdomyosarcoma|-|-|-| +213807 213807|Cervical leiomyosarcoma|-|-|-| +213812 213812|Cervical malignant peripheral neuroectodermal tumor
Cervical peripheral neuroectodermal cancer
Peripheral neuroectodermal cancer of cervix uteri|-|-|-| +213817 213817|Cervical papillary carcinoma|-|-|-| +213823 213823|Cervical adenoid cystic carcinoma|-|-|-| +213828 213828|Cervical adenoid basal carcinoma|-|-|-| +213833 213833|-|-|-|-| +213837 213837|Cervical germ cell cancer
Cervical malignant germ cell tumor
Germ cell cancer of cervix uteri|-|-|-| +2139 2139|Intellectual disability-epilepsy-bulbous nose syndrome|<1 / 1 000 000|Autosomal recessive|Childhood| +214 214|Cystinuria-lysinuria syndrome|1-5 / 10 000|Autosomal dominant
or Autosomal recessive|All ages|220100 +2140 2140|CDH|Unknown|Multigenic/multifactorial
or Not applicable|Neonatal|142340 222400 306950 610187 +2141 2141|Froster-Huch syndrome|<1 / 1 000 000|Autosomal recessive|Antenatal|601163 +2143 2143|DBS/FOAR syndrome
Diaphragmatic hernia-exomphalos-hypertelorism syndrome
Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
FOAR syndrome
Facio-oculo-acoustico-renal syndrome
Holmes-Schepens syndrome
Syndrome of ocular and facial anomalies, telecanthus and deafness|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|222448 +2145 2145|-|-|-|-| +2148 2148|X-linked lissencephaly type 1|Unknown|X-linked recessive|Infancy
Neonatal
Childhood
Adolescent|300067 +2149 2149|-|Unknown|Autosomal recessive
or X-linked dominant|All ages|300049 608097 608098 612881 615544 +215 215|Congenital essential nyctalopia|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Neonatal|163500 257270 300071 310500 610427 610444 610445 613216 613830 614565 615058 616389 +2150 2150|-|<1 / 1 000 000|-|Neonatal|306980 +2151 2151|-|-|-|-| +2152 2152|Hirschsprung disease-intellectual disability syndrome|Unknown|Autosomal dominant|Antenatal
Neonatal|235730 +2153 2153|Al Gazali-Donnai-Muller syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|235760 +2155 2155|Santos-Mateus-Leal syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|235740 +2156 2156|Wiedemann-Oldigs-Oppermann syndrome|<1 / 1 000 000|-|Neonatal
Infancy|142625 +2157 2157|HAL deficiency
HIS deficiency
Histidase deficiency
Histidine ammonia-lyase deficiency
Histidinuria
Hyperhistidinemia|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal|235800 +2158 2158|-|-|-|-|235830 +216 216|NCL|Unknown|Autosomal dominant
or Autosomal recessive|All ages| +2162 2162|HPE|Unknown|Multigenic/multifactorial
or Not applicable|Neonatal
Antenatal|142945 142946 147250 157170 236100 605934 609408 609637 610828 610829 612530 614226 +2163 2163|Camero-Lituania-Cohen syndrome
Genoa syndrome|<1 / 1 000 000|-|Antenatal
Neonatal|601370 +216445 216445|Isolated prelingual genetic deafness|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive
or Mitochondrial inheritance|Infancy
Neonatal| +216452 216452|Isolated postlingual genetic deafness|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Childhood| +2165 2165|-|-|-|Antenatal
Neonatal| +2166 2166|Pseudo-trisomy 13 syndrome|Unknown|Autosomal recessive|Neonatal
Antenatal|264480 +216675 216675|Complete transposition
TGA
TGV
Transposition of the great vessels|1-5 / 10 000|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +216694 216694|Congenitally corrected transposition of the great vessels
Discordant ventriculoarterial and atrioventricular connections
Double discordance
L-transposition of the great arteries
Levo-transposition of the great arteries
Ventricular inversion
Ventriculoarterial and atrioventricular discordance|Unknown|Not applicable|All ages| +2167 2167|-|<1 / 1 000 000|-|Antenatal
Neonatal|236110 +216718 216718|Isolated congenitally uncorrected transposition of the great vessels|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +216729 216729|Congenitally uncorrected transposition of the great vessels with cardiac malformation
TGA with cardiac malformation|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +216796 216796|Adair-Dighton syndrome
Mild osteogenesis imperfecta
Non-deforming osteogenesis imperfecta
OI type 1
Van der Hoeve syndrome|Unknown|Autosomal dominant|Childhood|166200 166230 +2168 2168|Homocarnosinase deficiency|<1 / 1 000 000|Autosomal dominant|Adult
Childhood|236130 +216804 216804|Lethal osteogenesis imperfecta
OI type 2|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|166210 259440 610682 610915 +216812 216812|OI type 3
Progressive deforming osteogenesis imperfecta
Severe osteogenesis imperfecta|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|259420 259440 610682 610915 610968 613848 613982 614856 615220 616229 +216820 216820|OI type 4|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|166220 259440 610682 610968 613849 613982 615066 615220 616507 +216828 216828|OI type 5|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|610967 +216866 216866|NBIA1, classic form
Neurodegeneration with brain iron accumulation type 1, classic form
PKAN, classic form|-|-|-| +216873 216873|NBIA1, atypical form
Neurodegeneration with brain iron accumulation type 1, atypical form
PKAN, atypical form|-|-|-| +2169 2169|Functional methionine synthase deficiency type cblE|<1 / 1 000 000|Autosomal recessive|Childhood|236270 +216972 216972|-|-|Autosomal recessive|Infancy
Neonatal| +216975 216975|-|Unknown|Autosomal recessive|Infancy
Neonatal| +216978 216978|-|Unknown|Autosomal recessive|Childhood| +216981 216981|Niemann-Pick disease type C, classic form|Unknown|Autosomal recessive|Childhood| +216986 216986|-|-|Autosomal recessive|Childhood| +217 217|-|1-9 / 100 000|Multigenic/multifactorial|Neonatal
Antenatal|220200 +2170 2170|Functional methionine synthase deficiency type cblG|<1 / 1 000 000|Autosomal recessive|All ages|250940 +217008 217008|Genuine diffuse phlebectasia|-|Not applicable|Infancy
Neonatal| +217012 217012|SCA31|Unknown|Autosomal dominant|Childhood
Adolescent
Adult
Elderly|117210 +217017 217017|Occipital atretic cephalocele-unusual facies-large feet syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|612916 +217023 217023|Atypical HUS with thrombomodulin anomaly
D-HUS with thrombomodulin anomaly
Hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly
aHUS with thrombomodulin anomaly|<1 / 1 000 000|Autosomal recessive|Childhood|612926 +217026 217026|Hadziselimovic syndrome
Microcephaly-faciocardioskeletal syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal|612946 +217031 217031|-|<1 / 1 000 000|-|Infancy
Neonatal|602025 +217055 217055|RI-CMT type A|<1 / 1 000 000|Autosomal recessive|Childhood|608340 +217059 217059|Isolated congenital acropachy
Isolated congenital nail clubbing|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|119900 +217067 217067|-|1-5 / 10 000|-|-| +217071 217071|RCC|1-5 / 10 000|Not applicable|Adult| +217074 217074|Rare pancreatic carcinoma|1-9 / 100 000|Not applicable|Adult| +217080 217080|-|1-5 / 10 000|-|-| +217085 217085|Hunter syndrome type A
Iduronate 2-sulfatase deficiency type A
MPS2A
MPSIIA
Mucopolysaccharidosis type 2A
Mucopolysaccharidosis type II, severe form
Mucopolysaccharidosis type IIA|Unknown|X-linked recessive|Childhood| +217093 217093|Hunter syndrome type B
Iduronate 2-sulfatase deficiency type B
MPS2B
MPSIIB
Mucopolysaccharidosis type 2B
Mucopolysaccharidosis type II, attenuated form
Mucopolysaccharidosis type IIB|Unknown|X-linked recessive|Childhood| +2172 2172|-|<1 / 1 000 000|Autosomal recessive|Neonatal|248760 +217253 217253|Limbic encephalitis with N-methyl-D-aspartate receptor antibodies|Unknown|Not applicable|All ages| +217260 217260|PML
Progressive multifocal leukoencephalitis|Unknown|Not applicable|All ages| +217266 217266|Bifid nose with or without anorectal and renal anomalies|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|608980 +217330 217330|FJHN type 2
Familial juvenile hyperuricemic nephropathy type 2
REN-associated FJHN
REN-associated familial juvenile hyperuricemic nephropathy
REN-associated kidney disease|<1 / 1 000 000|Autosomal dominant|Childhood|613092 +217335 217335|MACS syndrome
Macrocephaly-alopecia-cutis laxa-scoliosis syndrome
RIN2 deficiency
Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613075 +217340 217340|Dup(17)(q21.31)
Trisomy 17q21.31|1-9 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal|613533 +217346 217346|Del(19)(q13.11)
Monosomy 19q13.11|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal|613026 +217371 217371|Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613070 +217377 217377|Trisomy Xp11.22-p11.23|<1 / 1 000 000|X-linked dominant
or Not applicable|Infancy
Neonatal|300801 +217382 217382|-|<1 / 1 000 000|Autosomal recessive|Childhood|613068 +217385 217385|17p13.3 duplication syndrome
Dup(17)(p13.3)
Trisomy 17p13.3|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal|613215 +217390 217390|CID due to DOCK8 deficiency
Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency
DOCK8 immunodeficiency syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|243700 +217396 217396|-|<1 / 1 000 000|Autosomal recessive|Childhood|613710 +217399 217399|Congenital absence of pain with hyperhidrosis
Congenital analgesia with hyperhidrosis
Congenital indifference to pain with hyperhidrosis|<1 / 1 000 000|Unknown|Infancy
Neonatal| +217407 217407|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613102 +217454 217454|-|-|-|-| +217467 217467|Hereditary thrombophilia due to congenital HRG deficiency|-|Autosomal dominant|-|613116 +217557 217557|Infantile cellular interstitial pneumonitis
PIG|Unknown|Not applicable|Infancy
Neonatal| +217560 217560|NCHI
NEHI|Unknown|Not applicable|Infancy
Neonatal| +217563 217563|Neonatal acute respiratory distress due to surfactant protein B deficiency|Unknown|Autosomal recessive|Neonatal|265120 +217566 217566|-|-|Autosomal dominant|All ages|610913 +217569 217569|Hypertrophic subaortic stenosis
Obstructive hypertrophic cardiomyopathy|-|-|-| +217572 217572|GSD with hypertrophic cardiomyopathy
Glycogenosis with hypertrophic cardiomyopathy|-|-|-| +217581 217581|-|-|-|-| +217587 217587|-|-|-|-| +217591 217591|-|-|-|-| +217595 217595|-|-|-|-| +217598 217598|-|-|-|-| +2176 2176|-|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal
Infancy|228600 +217601 217601|-|-|-|-| +217604 217604|-|-|-|All ages| +217607 217607|-|-|-|-| +217610 217610|-|-|-|-| +217613 217613|-|-|-|-| +217616 217616|-|-|-|-| +217619 217619|-|-|-|-| +217622 217622|Neurosensory deafness with dilated cardiomyopathy
Neurosensory hearing loss with dilated cardiomyopathy
Sensorineural hearing loss with dilated cardiomyopathy|<1 / 1 000 000|Autosomal dominant|Childhood|605362 +217629 217629|-|-|-|-| +217632 217632|-|-|-|-| +217635 217635|-|-|-|-| +217638 217638|-|-|-|-| +217656 217656|Familial isolated ARVC
Familial isolated ARVD
Familial isolated arrhythmogenic right ventricular cardiomyopathy
Familial isolated arrhythmogenic ventricular cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia|Unknown|Autosomal dominant|-|107970 600996 602086 602087 604400 604401 607450 609040 610193 610476 611528 615616 +217678 217678|-|-|-|-| +2177 2177|-|Unknown|-|Antenatal
Neonatal| +217720 217720|-|-|-|-| +218 218|Darier-White disease
Keratosis follicularis|1-9 / 100 000|Autosomal dominant|All ages|124200 +2180 2180|Ferlini-Ragno-Calzolari syndrome
Waaler-Aarskog syndrome|<1 / 1 000 000|Unknown|Neonatal|600991 +2181 2181|Daish-Hardman-Lamont syndrome|<1 / 1 000 000|Autosomal recessive|Infancy|236660 +2182 2182|Bickers-Adams syndrome
HSAS
X-linked HSAS
X-linked acqueductal stenosis
X-linked hydrocephalus
X-linked hydrocephalus with stenosis of aqueduct of Sylvius|1-9 / 100 000|X-linked recessive|Antenatal
Neonatal|307000 +2183 2183|Sengers-Hamel-Otten syndrome|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal| +2184 2184|Palmer-Pagon syndrome|-|-|-| +218436 218436|-|-|-|-| +218439 218439|-|-|-|-| +2185 2185|-|Unknown|-|-|236600 615219 +2186 2186|Daentl-Townsend-Siegel syndrome|<1 / 1 000 000|Unknown|No data available| +2189 2189|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|236680 614120 +219 219|Delta-sarcoglycanopathy
LGMD2F
Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency|1-9 / 1 000 000|Autosomal recessive|Childhood|601287 +2190 2190|-|Unknown|Autosomal dominant|Neonatal|143400 +2194 2194|-|Unknown|Not applicable|All ages| +2195 2195|Glutamate-aspartate transport defect|-|-|Infancy
Neonatal|222730 +2196 2196|FHHNC with severe ocular involvement
Hypercalciuria-bilateral macular coloboma syndrome
Meier-Blumberg-Imahorn syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|248190 +2197 2197|-|-|-|-|143870 607258 +2198 2198|Bennion-Patterson syndrome
Howell-Evans syndrome
Keratosis palmoplantaris-esophageal carcinoma syndrome
Palmoplantar hyperkeratosis-esophageal carcinoma syndrome
Tylosis-oesophageal carcinoma syndrome|<1 / 1 000 000|Autosomal dominant|Adolescent
Adult|148500 +2199 2199|Diffuse erythrodermic palmoplantar keratoderma, Voerner type
Diffuse erythrodermic palmoplantar keratoderma, Vörner type
EPPK
Epidermolytic palmoplantar keratoderma of Voerner
Epidermolytic palmoplantar keratoderma of Vörner|-|-|-|144200 +22 22|4-hydroxybutyric aciduria
Gamma-hydroxybutyric aciduria
SSADH deficiency|Unknown|Autosomal recessive|Childhood
Infancy
Neonatal|271980 +220 220|Drash syndrome
Wilms tumor and pseudohermaphroditism|<1 / 1 000 000|-|Infancy
Neonatal|194080 +2200 2200|Focal palmoplantar and gingival hyperkeratosis|-|-|-|148730 +2201 2201|Palmoplantar hyperkeratosis-spastic paralysis syndrome
Powell-Venencie-Gordon syndrome|<1 / 1 000 000|Autosomal dominant|All ages|148360 +2202 2202|PPK-deafness syndrome
Palmoplantar hyperkeratosis-deafness syndrome
Palmoplantar hyperkeratosis-hearing loss syndrome
Palmoplantar keratoderma-hearing loss syndrome|<1 / 1 000 000|Autosomal dominant
or Mitochondrial inheritance|Childhood|148350 +220295 220295|XP/CS complex|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|278730 278760 278780 610651 +2203 2203|Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency|Unknown|Autosomal recessive|All ages|238700 238710 +220386 220386|-|1-9 / 100 000|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +220393 220393|Diffuse cutaneous systemic scleroderma
Progressive cutaneous systemic scleroderma
Progressive cutaneous systemic sclerosis|-|Multigenic/multifactorial
or Not applicable|Adult| +2204 2204|Kozlowski-Tsuruta syndrome|-|-|-| +220402 220402|Limited cutaneous systemic scleroderma|-|Multigenic/multifactorial
or Not applicable|Adult| +220407 220407|Systemic sclerosis sine scleroderma|Unknown|Not applicable|Adult| +220436 220436|Factor V Quebec|-|Autosomal dominant|-|601709 +220443 220443|-|-|-|-|614009 +220448 220448|-|-|-|-| +220452 220452|Inherited macrothrombocytopenia|-|-|-| +220460 220460|AFAP
Attenuated FAP
Attenuated familial polyposis coli|-|Autosomal dominant
or Autosomal recessive|Adult|175100 608456 612591 615083 616415 +220465 220465|Laron-like syndrome
Short stature due to STAT5b deficiency|<1 / 1 000 000|Autosomal recessive|-|245590 +220489 220489|Iron overload disease|Unknown|Autosomal dominant
or Autosomal recessive|All ages| +220493 220493|JS-O
Joubert syndrome with retinopathy|Unknown|Autosomal recessive|Infancy
Neonatal|608629 614424 614464 614970 617121 +220497 220497|JS-R|Unknown|Autosomal recessive|Infancy
Neonatal|609583 611560 614424 +2206 2206|-|<1 / 1 000 000|Autosomal dominant|Adult|106400 +2207 2207|-|Unknown|Autosomal dominant|Childhood| +2209 2209|Hyperphenylalaninemic embryopathy
Maternal PKU
Maternal hyperphenylalaninemia
Phenylketonuric embryopathy|Unknown|Autosomal recessive|Neonatal
Antenatal|261600 +221 221|Adult dermatomyositis
DM|1-9 / 100 000|Not applicable|All ages| +221008 221008|Poikiloderma of Rothmund-Thomson type 1
RTS1|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +221016 221016|Poikiloderma of Rothmund-Thomson type 2
RTS2|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +221039 221039|-|-|-|-|173700 +221043 221043|-|<1 / 1 000 000|Autosomal dominant|Infancy|615704 +221046 221046|Poikiloderma with neutropenia, Clericuzio type|<1 / 1 000 000|Autosomal recessive|-|604173 +221054 221054|Acrocephalopolydactylous dysplasia
Elejalde syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|200995 +221061 221061|Familial brain cavernous angioma
Familial brain cavernous hemangioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary brain cavernous hemangioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation|1-5 / 10 000|Autosomal dominant|All ages|116860 603284 603285 +221074 221074|-|-|-|-| +221078 221078|-|-|-|-| +221083 221083|Facial hemispasm
Focal myoclonus of face|-|-|-|141405 +221091 221091|-|-|-|-|190400 +221098 221098|Glossovasopharyngeal neuralgia|-|-|-| +2211 2211|Acro-fronto-facio-nasal dysostosis type 2
Acro-fronto-facio-nasal syndrome type 2
Naguib-Richieri-Costa syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|239710 +221106 221106|-|-|-|-| +221109 221109|Facial neuralgia|-|-|-| +221114 221114|-|-|-|-| +221117 221117|-|-|-|-| +221120 221120|ASSA
Aminopterin syndrome-like sine aminopterin|-|-|-|600325 +221126 221126|Cerebral proliferative glomeruloid vasculopathy
Encephaloclastic proliferative vasculopathy
Hydrocephaly/hydranencephaly due to cerebral vasculopathy
Proliferative vasculopathy and hydranencephaly/hydrocephaly|-|Autosomal recessive|-|225790 +221139 221139|Roifman-Chitayat syndrome|-|-|-|613328 +221142 221142|-|-|-|-| +221145 221145|Urban-Rifkin-Davis syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|613177 +221150 221150|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|610042 614325 +2213 2213|Bixler-Christian-Gorlin syndrome
HMC syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|239800 +2215 2215|Froster-Iskenius-Waterson syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|217150 +2216 2216|-|-|-|-| +2218 2218|-|<1 / 1 000 000|Autosomal recessive|Childhood|239840 +222 222|-|Unknown|Not applicable|Adult| +2220 2220|Hairy elbows
MacDermot-Patton-Williams syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|139600 +2221 2221|-|<1 / 1 000 000|Not applicable|Adult| +2222 2222|Hypertrichosis universalis|<1 / 1 000 000|Autosomal dominant|Childhood|145700 145701 307150 +2224 2224|-|<1 / 1 000 000|Autosomal recessive|-|600627 +222628 222628|-|-|-|-| +2228 2228|Hypodontia-nail dysgenesis syndrome
Tooth and nail syndrome
Witkop syndrome|Unknown|Autosomal dominant|Childhood|189500 +2229 2229|Cardiogenital syndrome
Malouf syndrome
Najjar syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|212112 +223 223|-|1-9 / 1 000 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Infancy
Neonatal|125800 304800 +2230 2230|Salti-Salem syndrome|<1 / 1 000 000|Autosomal dominant|Childhood| +2232 2232|Al Awadi-Farag-Teebi syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|241090 +2233 2233|Cantalamessa-Baldini-Ambrosi syndrome|<1 / 1 000 000|Unknown|Infancy| +2234 2234|Sohval-Soffer syndrome|<1 / 1 000 000|Unknown|Neonatal|307500 +2235 2235|Chang-Davidson-Carlson syndrome|<1 / 1 000 000|Unknown|No data available| +2237 2237|Barakat syndrome
HDR syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|146255 +223713 223713|OXPHOS disease|-|-|-| +223727 223727|-|1-9 / 100 000|-|-| +223735 223735|-|-|-|-| +2238 2238|-|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive|All ages|146200 307700 601198 615361 +2239 2239|-|<1 / 1 000 000|Autosomal recessive
or X-linked recessive|Infancy
Neonatal|307700 +224 224|NDM|Unknown|Autosomal dominant
or Autosomal recessive
or Not applicable|Infancy
Neonatal| +2241 2241|Berdon syndrome
MMIHS
Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|249210 +2246 2246|-|<1 / 1 000 000|-|Infancy|213000 +2248 2248|HLHS|Unknown|Unknown|Neonatal
Antenatal|241550 614435 +2249 2249|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|276821 +225 225|MIDD
Mitochondrial diabetes|1-9 / 1 000 000|Mitochondrial inheritance|All ages|520000 +2250 2250|Bosma-Henkin-Christiansen syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal|603457 +2251 2251|-|<1 / 1 000 000|-|-|188150 +225123 225123|TFR2-related hemochromatosis|<1 / 1 000 000|Autosomal recessive|Adolescent
Adult|604250 +225147 225147|Sporadic IBSN
Sporadic infantile striatonigral degeneration
Sporadic infantile striatonigral necrosis|1-9 / 1 000 000|Not applicable|All ages| +225154 225154|Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive
or Mitochondrial inheritance|Infancy
Neonatal|271930 500003 +2252 2252|Schmitt-Gillenwater-Kelly syndrome|-|-|-|179250 +2253 2253|O'Donnell-Pappas syndrome|<1 / 1 000 000|Autosomal dominant|Adult|136520 +2254 2254|Norman disease
PCH1|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|607596 614678 616081 +2255 2255|Yorifuji-Okuno syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|All ages|600001 +2256 2256|Saito-Kuba-Tsuruta syndrome|<1 / 1 000 000|-|Antenatal
Neonatal|228940 +225681 225681|-|-|-|-| +225686 225686|-|-|-|-| +225689 225689|-|-|-|-| +225692 225692|-|-|-|-| +225696 225696|-|-|-|-| +2257 2257|-|-|-|-|265430 +225700 225700|-|-|-|-| +225703 225703|-|-|-|-| +225707 225707|-|-|-|-| +225710 225710|-|-|-|-| +225713 225713|-|-|-|-| +2258 2258|-|-|-|-| +225968 225968|Familial essential thrombocythemia|Unknown|Autosomal dominant|All ages| +226 226|Hyperphenylalaninemia due to dihydropteridine reductase deficiency
PKU type 2
Phenylketonuria type 2|Unknown|Autosomal recessive|Infancy
Neonatal|261630 +2260 2260|Oligomeganephronic renal hypoplasia|Unknown|Multigenic/multifactorial|All ages| +2261 2261|Goldblatt-Wallis syndrome|<1 / 1 000 000|-|Neonatal
Infancy|241760 +226292 226292|-|Unknown|Autosomal recessive
or Not applicable|Infancy
Neonatal| +226295 226295|-|1-5 / 10 000|-|-| +226298 226298|Secondary hypothyroidism|Unknown|-|-| +226307 226307|-|Unknown|Autosomal dominant
or Autosomal recessive|-| +226310 226310|-|Unknown|-|-| +226313 226313|-|-|-|-| +226316 226316|-|-|-|-| +2266 2266|Lopes-Marques de Faria syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood| +2267 2267|Sidransky-Feinstein-Goodman syndrome|-|Autosomal dominant|-|146720 +2268 2268|Immunodeficiency-centromeric instability-facial anomalies syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|242860 614069 616910 616911 +2269 2269|Jagell-Holmgren-Hofer syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|242510 +227 227|-|<1 / 1 000 000|-|Infancy
Neonatal| +2271 2271|Congenital ichthyosis-microcephalus-quadriplegia syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal| +2272 2272|Clayton Smith-Donnai syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|258840 +2273 2273|IFAP syndrome
Ichthyosis follicularis-atrichia-photophobia syndrome|<1 / 1 000 000|Autosomal dominant
or X-linked recessive
or Not applicable|Infancy
Neonatal|308205 +2274 2274|Dykes-Markes-Harper syndrome|<1 / 1 000 000|Autosomal recessive
or X-linked recessive|Infancy
Neonatal|242520 +227510 227510|MSA, cerebellar type
MSA-c
Sporadic OPCA type 1
Sporadic olivopontocerebellar atrophy type 1|1-9 / 100 000|Not applicable|Adult| +227535 227535|Familial breast cancer
Familial breast carcinoma
Hereditary breast carcinoma|-|-|-|114480 600048 604370 605365 612555 613399 +227786 227786|Hereditary flecked retinopathy|-|-|-| +227796 227796|-|Unknown|Autosomal dominant
or Autosomal recessive|Childhood|136880 +2278 2278|Passwell-Goodman-Siprkowski syndrome|-|-|-|242530 +227972 227972|-|Unknown|Not applicable|All ages| +227976 227976|-|<1 / 1 000 000|Autosomal recessive|Childhood|612989 +227982 227982|APS type 3
APS3
Autoimmune polyendocrine syndrome type 3
Autoimmune polyglandular syndrome type 3|-|Multigenic/multifactorial|All ages| +227990 227990|APS type 4
APS4
Autoimmune polyendocrine syndrome type 4
Autoimmune polyglandular syndrome type 4|-|Multigenic/multifactorial|Adult| +228000 228000|-|Unknown|Not applicable|Adult|615518 +228003 228003|SCID due to CORO1A deficiency
SCID due to coronin-1A deficiency
Severe combined immunodeficiency due to coronin-1A deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615401 +228012 228012|Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome
Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome
Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome|<1 / 1 000 000|Autosomal dominant|All ages|606346 +228113 228113|-|1-5 / 10 000|-|-| +228116 228116|-|<1 / 1 000 000|Not applicable|Adult| +228119 228119|Fusarium infection|Unknown|Not applicable|All ages| +228123 228123|California disease
Coccidioides infection
Desert fever
Desert rheumatism
San Joaquin valley fever
Valley fever|Unknown|Not applicable|All ages| +228140 228140|Familial paroxysmal ventricular fibrillation, non Brugada type|Unknown|Autosomal dominant
or Not applicable|All ages|603829 612956 +228145 228145|-|-|-|-| +228157 228157|Acute multiple sclerosis, Marburg type
Acute multiple sclerosis, Marburg variant|Unknown|Multigenic/multifactorial|Adult| +228165 228165|Concentric demyelination|Unknown|Multigenic/multifactorial|Adult| +228169 228169|ADSD|<1 / 1 000 000|Autosomal dominant|Adult|609161 +228174 228174|CMT2N|<1 / 1 000 000|Autosomal dominant|All ages|613287 +228179 228179|CMT2M|<1 / 1 000 000|Autosomal dominant|All ages|606482 +228184 228184|Atriodigital dysplasia|-|-|-| +228190 228190|Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|604381 +2282 2282|Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +228215 228215|-|-|-|-| +228218 228218|-|-|-|-| +228221 228221|-|-|-|-| +228224 228224|-|-|-|-| +228227 228227|PXE-like late-onset focal dermal elastosis
Pseudoxanthoma-like late-onset focal dermal elastosis|<1 / 1 000 000|Not applicable|Adult| +228236 228236|Elastotic striae|<1 / 1 000 000|Not applicable|All ages| +228240 228240|-|<1 / 1 000 000|Not applicable|Adolescent
Adult| +228243 228243|-|-|Not applicable|Adult| +228247 228247|Acquired Gronblad-Strandberg-Touraine syndrome
Acquired PXE|<1 / 1 000 000|Not applicable|Adult| +228254 228254|Juvenile elastoma without osteopoikilosis
Nevus elasticus
Weidman juvenile elastoma|Unknown|Not applicable|Childhood| +228264 228264|Disseminated nevus anelasticus
Eruptive collagenoma
Nevus anelasticus|<1 / 1 000 000|Not applicable|All ages| +228272 228272|Primary macular atrophy|Unknown|Not applicable|All ages| +228277 228277|Hereditary anetoderma
Hereditary macular atrophy|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|All ages| +228285 228285|Cutis laxa acquisita|Unknown|Not applicable|All ages| +228290 228290|-|Unknown|Not applicable|Adult| +228293 228293|PXE-like papillary dermal elastocytosis|Unknown|Not applicable|Adult| +228299 228299|-|Unknown|Not applicable|Adult| +228302 228302|CPT2, adult-onset form
CPT2, myopathic form
CPTII, adult-onset form
CPTII, myopathic form
Carnitine palmitoyl transferase II deficiency, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, myopathic form|Unknown|Autosomal recessive|All ages|255110 +228305 228305|CPT2, hepatocardiomuscular form
CPT2, severe infantile form
CPTII, hepatocardiomuscular form
CPTII, severe infantile form
Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form
Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form
Carnitine palmitoyl transferase deficiency type 2, severe infantile form|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|600649 +228308 228308|CPT2, lethal systemic form
CPT2, neonatal form
CPTII, lethal systemic form
CPTII, neonatal form
Carnitine palmitoyl transferase II deficiency, lethal systemic form
Carnitine palmitoyl transferase deficiency type 2, lethal systemic form
Carnitine palmitoyl transferase deficiency type 2, neonatal form|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|608836 +228312 228312|Cold AIHA
cAHA
cAIHA|1-9 / 100 000|Multigenic/multifactorial|All ages| +228315 228315|-|Unknown|-|Childhood| +228318 228318|-|1-9 / 1 000 000|-|Adolescent
Adult| +228329 228329|-|-|Autosomal recessive|All ages|256730 +228337 228337|Cathepsin D deficiency|-|Autosomal recessive|All ages|610127 +228340 228340|-|-|Autosomal recessive|Adult|204300 +228343 228343|-|-|Autosomal dominant|Adult|162350 +228346 228346|-|-|Autosomal recessive|Childhood|204200 +228349 228349|-|-|Autosomal recessive|Childhood|204500 +228354 228354|-|-|Autosomal recessive|Childhood|600143 +228357 228357|-|-|Autosomal recessive|Childhood|609055 +228360 228360|-|-|Autosomal recessive|Childhood|256731 +228363 228363|-|-|Autosomal recessive|Childhood|601780 +228366 228366|-|-|Autosomal recessive|Childhood|610951 +228371 228371|Intoxication botulism|Unknown|-|All ages| +228374 228374|Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency|<1 / 1 000 000|Autosomal recessive|Childhood
Infancy| +228379 228379|Cyclosporine-induced folliculodystrophy
Pilomatrix dysplasia
TS
Trichodysplasia spinulosa
VATS|<1 / 1 000 000|Not applicable|All ages| +228384 228384|Del(5)(q14.3)
Monosomy 5q14.3|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal|613443 +228387 228387|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613330 +228390 228390|ALX4-related FNDAG
Craniofrontonasal dysplasia with alopecia and hypogonadism
Frontonasal dysplasia with alopecia and genital abnomality|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613451 +228396 228396|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +228399 228399|Dup(8)(q12)
Trisomy 8q12|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal| +228402 228402|Del(2)(q23.1)
Monosomy 2q23.1
Pseudo-Angelman syndrome|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal|156200 +228410 228410|PHD syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +228415 228415|Dup(5)(q35)
Trisomy 5q35|<1 / 1 000 000|Not applicable
or Unknown|Childhood| +228423 228423|Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
Dendritic cell, monocyte, B and NK lymphoid deficiency
MonoMAC
Monocyte-B-natural killer-dendritic cell deficiency syndrome
Monocytopenia and mycobacterial infection syndrome|<1 / 1 000 000|Autosomal dominant
or Not applicable|Adult|614172 +228426 228426|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613385 +228429 228429|GCL4
Generalized congenital lipodystrophy type 4|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613327 +2285 2285|Bull-Nixon syndrome|Unknown|Autosomal dominant|All ages|109500 +2286 2286|SMMCI
Single upper central incisor|Unknown|Multigenic/multifactorial|Childhood|147250 +2287 2287|-|-|-|-|147251 +2289 2289|-|Unknown|-|All ages|603472 +229 229|Annuloaortic ectasia
Cystic medial necrosis of aorta
Erdheim disease|-|-|All ages|607086 +2290 2290|Congenital microvillous atrophy
Congenital microvillus atrophy
MVID
Microvillous inclusion disease|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|251850 +2291 2291|-|-|-|-|167500 +2292 2292|-|Unknown|Autosomal recessive|Infancy
Neonatal|211355 264050 +2295 2295|EDS XI
Familial joint instability syndrome
Familial joint laxity
Joint instability syndrome|Unknown|Autosomal dominant|Adolescent
Infancy
Childhood|147900 +2297 2297|-|Unknown|Autosomal dominant
or Autosomal recessive|Childhood|610549 +229717 229717|Isolated hypogammaglobulinemia|1-9 / 1 000 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Infancy
Neonatal|300310 300755 601495 612692 613500 613501 613502 613506 615214 616941 +229720 229720|-|-|-|-| +2298 2298|-|Unknown|Not applicable|Adult| +2299 2299|-|Unknown|Not applicable|Infancy
Neonatal| +23 23|ASA deficiency
ASL deficiency
Argininosuccinase deficiency
Argininosuccinatelyase deficiency
Argininosuccinic acid lyase deficiency|1-9 / 100 000|Autosomal recessive|Neonatal
All ages|207900 +230 230|Noradrenaline deficiency
Norepinephrine deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|223360 +2300 2300|Familial intestinal polyatresia syndrome|-|Autosomal recessive|Neonatal|243150 +2301 2301|-|<1 / 1 000 000|Autosomal recessive
or X-linked recessive|Neonatal
Infancy|300048 615237 +2302 2302|Asbestosis|-|-|-| +2305 2305|Isotretinoin embryopathy
Retinoic acid embryopathy
Retinoids embryopathy|Unknown|Not applicable|Infancy
Neonatal| +2306 2306|Kawashima syndrome
Microtia-aortic arch syndrome|<1 / 1 000 000|Autosomal recessive
or X-linked recessive|Infancy
Neonatal|243440 +2307 2307|Oculo-oto-radial syndrome
Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia|<1 / 1 000 000|Autosomal dominant|Antenatal
Neonatal|147750 +2308 2308|Del(11)(q23.3)
Del(11)(qter)
Distal deletion 11q
Distal monosomy 11q
Monosomy 11qter
Telomeric deletion 11q|Unknown|Not applicable
or Unknown|Neonatal
Antenatal|147791 +230800 230800|Toxin-mediated infective botulism|Unknown|-|All ages| +230839 230839|EDS, classic-like type
Ehlers-Danlos syndrome, classic-like type|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|606408 +230845 230845|EDS, vascular-like type|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +230851 230851|EDS, cardiac valvular type|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|225320 +230857 230857|EDS/OI syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +2309 2309|PC|Unknown|Autosomal dominant|All ages|167200 167210 260130 615726 615728 +231 231|Dracunculosis
Guinea worm disease
Medina worm disease
Medinensis|<1 / 1 000 000|-|All ages| +2310 2310|-|<1 / 1 000 000|-|-|246000 +231013 231013|-|Unknown|Not applicable|Infancy
Neonatal|122450 +231031 231031|Lane disease
Red palms disease|Unknown|Autosomal dominant|Infancy
Neonatal|133000 +231040 231040|Familial lentigines profusa
Familial multiple lentigines syndrome without systemic involvement|Unknown|Autosomal dominant
or Unknown|All ages|151001 +231080 231080|-|-|-|-| +2311 2311|Jarcho-Levin syndrome|Unknown|Autosomal recessive|Neonatal
Antenatal|277300 608681 609813 613686 616566 +231108 231108|RTPS
Rhabdoid tumor predisposition syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|609322 613325 +231111 231111|DILE|Unknown|Not applicable|All ages| +231117 231117|-|-|-|Infancy
Neonatal| +231120 231120|-|-|Autosomal dominant|Infancy
Neonatal| +231127 231127|-|-|-|-| +231130 231130|-|-|-|Infancy
Neonatal| +231137 231137|Silver-Russell syndrome due to 7p11.2-p13 microduplication
Silver-Russell syndrome due to dup(7)(p11.2p13)
Silver-Russell syndrome due to trisomy 7p11.2-p13
Silver-Russell syndrome due to trisomy 7p11.2p13|-|Autosomal dominant
or Not applicable|Infancy
Neonatal| +231140 231140|-|-|Not applicable
or Unknown|-| +231144 231144|-|-|Autosomal dominant
or Not applicable|-| +231147 231147|UPD(11)mat|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal| +231154 231154|CID due to partial RAG1 deficiency
CID with expansion of gamma delta T cells
Combined immunodeficiency with expansion of gamma delta T cells|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|609889 +231160 231160|Familial berry aneurysm
Familial intracranial saccular aneurysm|-|Autosomal dominant
or Autosomal recessive|All ages|105800 300870 608542 609122 610213 611892 612161 612162 612586 612587 614252 +231169 231169|USH1|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal|276900 276904 601067 602083 602097 606943 612632 614869 614990 +231178 231178|USH2|1-9 / 100 000|Autosomal recessive|Infancy
Childhood
Adolescent|276901 605472 611383 +231183 231183|USH3|1-9 / 1 000 000|Autosomal recessive|Childhood
Adolescent|276902 500004 614504 +2312 2312|Lucey-Driscoll syndrome|-|-|-|237900 +231214 231214|Cooley anemia
Mediterranean anemia|Unknown|Autosomal recessive|Infancy
Neonatal|613985 +231222 231222|-|Unknown|Autosomal recessive|Childhood|613985 +231226 231226|Inclusion body beta-thalassemia|Unknown|Autosomal dominant|Childhood|603902 +231230 231230|Beta-thalassemia associated with another Hb anomaly|-|Autosomal dominant
or Autosomal recessive|All ages| +231237 231237|-|Unknown|Autosomal recessive|Infancy
Neonatal|141749 +231242 231242|C-beta-thalassemia
HbC-beta-thalassemia syndrome|Unknown|Autosomal recessive|-| +231249 231249|E-beta-thalassemia
HbE-beta-thalassemia syndrome|Unknown|Autosomal recessive|-| +231386 231386|-|-|-|-| +231393 231393|XLTT|Unknown|X-linked recessive|-|314050 +2314 2314|AD-HIES
Autosomal dominant HIES
Autosomal dominant hyperimmunoglobulin E syndrome
Buckley syndrome
Hyperimmunoglobulin E syndrome type 1
Hyperimmunoglobulin E-recurrent infection syndrome
Job syndrome
STAT3 deficiency|1-9 / 100 000|Autosomal dominant|Infancy
Neonatal|147060 +231401 231401|ATMDS
Acquired HbH disease
Acquired hemoglobin H disease|<1 / 1 000 000|Not applicable|Adult|300448 +231413 231413|Variant of GBS|-|Multigenic/multifactorial
or Not applicable|All ages| +231416 231416|Regional variant of GBS|-|Multigenic/multifactorial
or Not applicable|All ages| +231419 231419|Functional variant of GBS|-|Multigenic/multifactorial
or Not applicable|All ages| +231426 231426|PCB variant of GBS
PCB variant of Guillain-Barré syndrome
Pharyngeal-cervical-brachial weakness
Pharyngo-cervico-brachial variant of GBS
Pharyngo-cervico-brachial variant of Guillain-Barré syndrome|-|Multigenic/multifactorial
or Not applicable|All ages| +231445 231445|Paraparetic variant of GBS|-|Multigenic/multifactorial
or Not applicable|All ages| +231450 231450|Acute pure sensory GBS
Acute pure sensory Guillain-Barré syndrome|-|Multigenic/multifactorial
or Not applicable|All ages| +231457 231457|Acute panautonomic GBS
Acute panautonomic Guillain-Barré syndrome
Acute panautonomic neuropathy|-|Multigenic/multifactorial
or Not applicable|All ages| +231466 231466|ASAN
Acute sensory ataxic GBS
Acute sensory ataxic Guillain-Barré syndrome|-|Multigenic/multifactorial
or Not applicable|All ages| +2315 2315|-|-|Autosomal recessive|Infancy
Neonatal|243800 +231500 231500|HPS with pulmonary fibrosis|Unknown|Autosomal recessive|Infancy
Neonatal|203300 614073 +231512 231512|HPS without pulmonary fibrosis|Unknown|Autosomal recessive|Infancy
Neonatal|614072 614074 614075 +231531 231531|HPS7|<1 / 1 000 000|-|-|614076 +231537 231537|HPS8|<1 / 1 000 000|-|-|614077 +231556 231556|-|<1 / 1 000 000|Unknown|Childhood|226440 +231568 231568|Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types
DDEB, Pasini and Cockayne-Touraine types
DDEB, generalized
DDEB-gen|Unknown|Autosomal dominant|Infancy
Neonatal|131750 +231573 231573|-|<1 / 1 000 000|Not applicable|Infancy
Neonatal| +231580 231580|PUAH|Unknown|Not applicable|All ages| +2316 2316|Alopecia-anosmia-deafness-hypogonadism syndrome
Johnson-McMillin syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|147770 +231625 231625|Pure APAC
Pure aldosterone-producing adrenocortical carcinoma
Pure aldosterone-secreting adrenocortical carcinoma|Unknown|Not applicable|All ages| +231632 231632|Extra-adrenal aldosterone-producing tumor|-|Not applicable|All ages| +231637 231637|-|Unknown|Not applicable|All ages| +231641 231641|-|-|Autosomal dominant
or Not applicable|-| +231662 231662|Congenital IGHD type IA
Congenital isolated GH deficiency type IA
Congenital isolated growth hormone deficiency type IA|-|Autosomal recessive|Infancy
Neonatal|262400 +231671 231671|Congenital IGHD type IB
Congenital isolated GH deficiency type IB
Congenital isolated growth hormone deficiency type IB|-|Autosomal recessive|Infancy
Neonatal|612781 +231679 231679|Congenital IGHD type II
Congenital isolated GH deficiency type II
Congenital isolated growth hormone deficiency type II|-|Autosomal dominant|Infancy
Neonatal|173100 +231692 231692|Congenital IGHD type III
Congenital isolated GH deficiency type III
Congenital isolated growth hormone deficiency type III
X-linked IGHD
X-linked isolated growth hormone deficiency|-|X-linked recessive|Infancy
Neonatal|300123 307200 +231720 231720|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|221750 +231736 231736|MPPC syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal| +231742 231742|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +2318 2318|Arima syndrome
CORS
Cerebello-oculo-renal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|243910 608091 610188 612285 614424 614465 614844 +2319 2319|Cleft lip/palate-abnormal thumbs-microcephaly syndrome
Orocraniodigital syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|216100 +231957 231957|-|-|-|-| +232 232|Sickle cell disease|1-5 / 10 000|Autosomal recessive|All ages|603903 +232035 232035|-|-|-|-| +2321 2321|-|<1 / 1 000 000|-|Neonatal
Infancy|601427 +2322 2322|Kabuki make-up syndrome
Niikawa-Kuroki syndrome|1-9 / 100 000|Autosomal dominant
or Not applicable|Infancy
Neonatal|147920 300867 +232288 232288|-|-|-|-| +2323 2323|HRD syndrome
Hypoparathyroidism-intellectual disability-dysmorphism syndrome
Hypoparathyroidism-short stature-intellectual disability-seizures syndrome
Richardson-Kirk syndrome
SSS|Unknown|Autosomal recessive|Infancy
Neonatal|241410 +2324 2324|Osteopenia-intellectual disability-sparse hair syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|259690 +2325 2325|Gamborg-Nielsen syndrome
Kallin syndrome|-|-|-| +2326 2326|-|<1 / 1 000 000|Autosomal recessive|-| +2328 2328|Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|244300 +2329 2329|Split hand/split foot-nystagmus syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|183800 +233 233|DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome|1-5 / 10 000|Autosomal dominant
or Autosomal recessive
or Not applicable|Infancy
Neonatal|126800 604356 616219 617041 +2330 2330|Hemangioma-thrombocytopenia syndrome|Unknown|Not applicable|Infancy
Neonatal|141000 +2331 2331|Mucocutaneous lymph node syndrome|Unknown|Multigenic/multifactorial|Infancy
Childhood
Adolescent
Adult|611775 +2332 2332|Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome|<1 / 1 000 000|Autosomal dominant
or Not applicable|Childhood|148050 +2333 2333|Kenny syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Childhood|127000 244460 +2334 2334|Hereditary keratitis|Unknown|Autosomal dominant|Childhood|148190 +233655 233655|-|-|-|-| +2337 2337|Autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type
NEPPK|1-9 / 100 000|Autosomal dominant|-|600231 +2338 2338|Isolated punctate PPK
Isolated punctate palmoplantar hyperkeratosis|-|Autosomal dominant|-| +2339 2339|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|308830 +234 234|Dubin-Sprinz disease
Hyperbilirubinemia type 2
Sprinz-Nelson syndrome|Unknown|Autosomal recessive|Adolescent
Adult|237500 +2340 2340|-|<1 / 1 000 000|Autosomal dominant
or X-linked recessive
or Autosomal recessive|Childhood|308800 612843 +2342 2342|Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome
Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome
Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome|<1 / 1 000 000|Autosomal recessive|-|245010 +2343 2343|-|Unknown|Not applicable|Neonatal|148800 600775 +2345 2345|Congenital cervical vertebral fusion
Congenital fused cervical segments
Klippel-Feil malformation
Klippel-Feil sequence|1-9 / 100 000|Autosomal dominant
or Autosomal recessive
or Not applicable|Infancy
Neonatal|118100 214300 613702 +2346 2346|Klippel-Trénaunay-Weber syndrome|Unknown|Autosomal dominant
or Not applicable|Infancy
Childhood
Adolescent|149000 608355 +2347 2347|-|<1 / 1 000 000|Autosomal recessive|Neonatal|245190 +2348 2348|Dunnigan syndrome
FPLD2
Familial partial lipodystrophy type 2|Unknown|Autosomal dominant|Adolescent
Adult|151660 +2349 2349|Hoffman syndrome
Kocher-Debré-Semelaigne syndrome|Unknown|-|Childhood| +235 235|-|Unknown|Autosomal recessive|Neonatal
Antenatal|223370 +2351 2351|Sacral meningocele-conotruncal heart defects syndrome|<1 / 1 000 000|-|Antenatal
Infancy
Neonatal| +2352 2352|-|<1 / 1 000 000|-|Infancy
Neonatal| +2353 2353|BRSS
Hypotelorism-cleft palate-hypospadias syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|164220 +2356 2356|-|Unknown|Autosomal recessive
or Not applicable|Childhood|182990 207790 +2357 2357|-|Unknown|Unknown|All ages| +235832 235832|-|-|-|-| +235936 235936|FH|Unknown|Autosomal dominant|All ages| +236 236|Duplication 9p
Duplication of the short arm of chromosome 9
Trisomy of the short arm of chromosome 9|<1 / 1 000 000|-|-| +2363 2363|LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome|<1 / 1 000 000|Autosomal dominant|Antenatal
Neonatal
Infancy
Childhood|149730 +2364 2364|GSD due to lactate dehydrogenase deficiency
Glycogenosis due to lactate dehydrogenase deficiency
LDH deficiency|-|-|-|612933 614128 +2368 2368|Laparoschisis|1-5 / 10 000|Not applicable|Neonatal
Antenatal|230750 +2369 2369|LBWC syndrome|Unknown|Not applicable|Infancy
Neonatal| +237 237|-|Unknown|-|-| +2370 2370|-|-|-|-|608545 +2371 2371|-|<1 / 1 000 000|Autosomal recessive|Neonatal|245650 +2372 2372|-|-|-|-| +2373 2373|-|-|-|-|150280 +2374 2374|-|-|-|-|150360 +2375 2375|Plott syndrome|<1 / 1 000 000|X-linked recessive|Childhood|308850 +2377 2377|-|Unknown|Autosomal recessive|Neonatal|245800 +2378 2378|Mirror hands and feets-nasal defects syndrome
Sandrow syndrome|-|Autosomal dominant|-|135750 +2379 2379|Laxova-Opitz syndrome
Waisman syndrome|<1 / 1 000 000|X-linked recessive|Infancy|311510 +238 238|-|-|-|-| +2380 2380|Aseptic necrosis of the capital femoral epiphysis
Osteochondritis of the capital femoral epiphysis
Osteochondrosis of the capital femoral epiphysis
Perthes disease|Unknown|Autosomal dominant
or Multigenic/multifactorial|Childhood|150600 +2382 2382|-|1-5 / 10 000|Autosomal dominant
or Multigenic/multifactorial
or Not applicable|Childhood|615369 616346 617113 +238269 238269|Apolipoprotein A-II amyloidosis
Familial amyloid nephropathy due to apolipoprotein A-II variant
Familial renal amyloidosis due to apolipoprotein A-II variant
Hereditary amyloid nephropathy due to apolipoprotein A-II variant
Hereditary renal amyloidosis due to apolipoprotein A-II variant|-|Autosomal dominant|-| +238305 238305|-|-|-|-| +238329 238329|Mitochondrial encephalomyopathy due to COXPD6
Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6|<1 / 1 000 000|X-linked recessive|Infancy|300816 +238446 238446|15q11-q13 duplication syndrome
15q11-q13 microduplication syndrome
15q11q13 duplication syndrome
Dup(15)(q11q13)
Trisomy 15q11-q13
Trisomy 15q11q13|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal|608636 +238455 238455|IPD
PKDYS|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613135 +238459 238459|CDG syndrome type IIf
CDG-IIf
CDG2F
CMP-sialic acid transporter deficiency
Carbohydrate deficient glycoprotein syndrome type IIf
Congenital disorder of glycosylation type 2f
Congenital disorder of glycosylation type IIf|<1 / 1 000 000|No data available|Infancy
Neonatal|603585 +238468 238468|Anhidrotic ectodermal dysplasia
HED|1-9 / 100 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Infancy
Neonatal|129490 224900 300291 305100 612132 614940 614941 +238475 238475|Hereditary hypercholanemia|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|607748 +238505 238505|CD27 deficiency|<1 / 1 000 000|Autosomal recessive|Childhood|613011 615122 +238510 238510|-|-|-|-| +238517 238517|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +238523 238523|Atypical HCS|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|606407 +238536 238536|Congenital secondary erythrocytosis|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal| +238547 238547|Acquired secondary erythrocytosis|Unknown|Not applicable|All ages| +238557 238557|Chuvash polycythemia
Von Hippel-Lindau-dependent polycythemia|Unknown|Autosomal recessive|Infancy
Neonatal|263400 +238569 238569|Autosomal recessive early-onset IBD|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|612567 613148 615767 +238578 238578|Hereditary clubfoot due to 17q23.1-q23.2 microduplication|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal|613618 +238583 238583|Hyperphenylalaninemia due to BH4 deficiency
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Non-phenylketonuric hyperphenylalaninemia|1-9 / 1 000 000|Autosomal recessive|Neonatal
Infancy|233910 261630 261640 264070 +238593 238593|Isolated mesenteric lipodystrophy
Lipomatous mesenteritis
Liposclerotic mesenteritis
Mesenteric lipogranuloma
Mesenteric panniculitis
Sclerosing mesenteritis|Unknown|Not applicable|Adult| +2386 2386|-|<1 / 1 000 000|Autosomal recessive|Childhood| +238606 238606|POT|Unknown|Not applicable|Adult| +238613 238613|-|-|-|-| +238621 238621|-|1-9 / 100 000|-|-| +238624 238624|Benign intracranial hypertension
IIH
Pseudotumor cerebri|-|-|-|243200 +238637 238637|Megaureter-megacystis syndrome|-|-|Infancy
Neonatal| +238642 238642|-|Unknown|Unknown|Adult| +238646 238646|-|Unknown|Unknown|Infancy
Neonatal| +238650 238650|-|Unknown|Unknown|Infancy
Neonatal| +238654 238654|-|Unknown|Unknown|Infancy
Neonatal| +238666 238666|-|-|-|-| +238670 238670|Isolated TRF deficiency
Isolated TRH deficiency
Isolated TSH-releasing factor deficiency
Isolated prothyroliberin deficiency
Isolated protirelin deficiency
Isolated thyroliberin deficiency
Isolated thyrotropin-releasing factor deficiency|Unknown|Unknown|All ages|275120 +238688 238688|-|-|Not applicable|Infancy
Neonatal| +238691 238691|Congenital hepatic hemangioma|-|Not applicable|Infancy
Neonatal| +238696 238696|-|-|-|-| +238699 238699|-|-|-|-| +2387 2387|-|-|-|-|151600 +238722 238722|Familial congenital controlateral synkinesia
Hereditary congenital controlateral synkinesia
Hereditary congenital mirror movements
Isolated congenital controlateral synkinesia
Isolated congenital mirror movements|<1 / 1 000 000|Autosomal dominant|Infancy
Childhood|157600 614508 616059 +238744 238744|MDN syndrome
Onycho-digito-mammary syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|613689 +238750 238750|Del(4)(q21)
Monosomy 4q21|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal|613509 +238755 238755|LGMD1H|<1 / 1 000 000|Autosomal dominant|Adult
Adolescent|613530 +238763 238763|Megalocornea-spherophakia-secondary glaucoma syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|251750 +238766 238766|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +238769 238769|Del(1)(q44)
Monosomy 1q44|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal| +2388 2388|ChAc
Chorea-acanthocytosis
Levine-Critchley syndrome|Unknown|Autosomal recessive|Adult|200150 +239 239|-|<1 / 1 000 000|Autosomal recessive|Infancy|223800 304950 +2390 2390|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|246550 +2391 2391|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|122580 +2394 2394|DLD deficiency
Dihydrolipoamide dehydrogenase deficiency
E3-deficient maple syrup urine disease|<1 / 1 000 000|Autosomal recessive|Childhood|246900 +2396 2396|Haberland syndrome|<1 / 1 000 000|Not applicable|Childhood|613001 +2398 2398|Cephalothoracic lipodystrophy
Familial benign cervical lipomatosis
Launois-Bensaude lipomatosis
Madelung disease|Unknown|Not applicable
or Autosomal dominant
or Mitochondrial inheritance
or Autosomal recessive|Adult|151800 +2399 2399|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|167730 +24 24|Fumarase deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|606812 +240 240|Léri-Weill syndrome|Unknown|Autosomal dominant|Neonatal|127300 +2400 2400|Lisker-Garcia-Ramos syndrome|-|Unknown|-|252320 +240071 240071|Classic PSP syndrome
Richardson syndrome
Steele-Richardson-Olszewski disease|1-9 / 100 000|Not applicable|Adult|601104 609454 610898 +240085 240085|PSP-p
PSP-parkinsonism|Unknown|Not applicable|Adult|260540 +240094 240094|PSP-PAGF
PSP-pure akinesia with gait freezing|1-9 / 100 000|Not applicable|Adult| +240103 240103|PSP-CBS
PSP-corticobasal syndrome|1-9 / 1 000 000|Not applicable|Adult| +240112 240112|PSP-AOS
PSP-PNFA
Progressive supranuclear palsy-apraxia of speech syndrome|<1 / 1 000 000|Not applicable|Adult| +240371 240371|-|-|-|-| +2404 2404|-|<1 / 1 000 000|Not applicable|All ages| +2405 2405|Escher-Hirt syndrome|<1 / 1 000 000|Autosomal dominant|All ages|128980 +2406 2406|Cerebromedullospinal disconnection|<1 / 1 000 000|Not applicable|All ages| +2407 2407|LOGIC syndrome
Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome
Laryngo-onycho-cutaneous syndrome
Shabbir syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|245660 +240760 240760|Microcephaly and chromosomal instability without immunodeficiency
NBS-like disorder
NBSLD
RAD50 deficiency|-|-|-|613078 +2408 2408|Deafness-nephritis-ano-rectal malformation syndrome|<1 / 1 000 000|-|Antenatal
Neonatal| +240841 240841|-|-|-|-| +240845 240845|-|-|-|-| +240863 240863|-|-|-|-|613290 +240867 240867|-|-|-|-| +240869 240869|-|-|-|-|614546 +240871 240871|-|-|-|-| +240885 240885|-|-|-|-| +240887 240887|-|-|-|-| +2409 2409|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|600252 +240905 240905|-|-|-|-| +240921 240921|-|-|-|-| +240935 240935|-|-|-|-|609535 +240947 240947|-|-|-|-| +241 241|-|-|Autosomal dominant
or Autosomal recessive|-|127500 612715 615402 +2410 2410|Lubinsky syndrome|<1 / 1 000 000|Autosomal recessive|Adolescent|240950 +241043 241043|-|-|-|-| +2412 2412|Collins-Pope syndrome|<1 / 1 000 000|-|Infancy
Neonatal|601450 +2414 2414|Pulmonary lymphangiomatosis|Unknown|Autosomal recessive|Neonatal|265300 +2415 2415|LM
Lymphangioma|1-5 / 10 000|Not applicable|Infancy
Neonatal| +242 242|46,XY CGD
46,XY pure gonadal dysgenesis
Swyer syndrome|Unknown|Autosomal dominant
or Autosomal recessive
or Y-linked
or X-linked recessive|Adolescent
Adult|154230 233420 300018 400044 612965 613080 613762 616425 +2420 2420|-|Unknown|Not applicable|Adult
Elderly| +2427 2427|Volcke-Soekarman syndrome|<1 / 1 000 000|Unknown|Adult| +2429 2429|Fryns macrocephaly|Unknown|Autosomal recessive|Childhood|600302 +243 243|46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
FSH-RO
Follicular stimulating hormone-resistant ovaries
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD|1-9 / 100 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive
or Not applicable|Adolescent
Adult|233300 300510 614324 +2430 2430|-|-|-|-|153630 +2431 2431|-|<1 / 1 000 000|Unknown|Childhood| +2432 2432|Teebi-Al Saleh-Hassoon syndrome|<1 / 1 000 000|-|Neonatal|248110 +243343 243343|DMG dehydrogenase deficiency
DMGDH deficiency|<1 / 1 000 000|Autosomal recessive|Childhood|605850 +243367 243367|AFLP|-|Multigenic/multifactorial|Adult| +2435 2435|Westerhof-Beemer-Cormane syndrome|<1 / 1 000 000|Unknown|Neonatal
Infancy| +2437 2437|Split hand with obstructive uropathy, spina bifida and diaphragmatic defects
Split hand-urinary anomalies-spina bifida syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|183802 +2438 2438|HFGS
Hand-foot-uterus syndrome|-|Autosomal dominant|-|140000 +2439 2439|Patterson-Stevenson syndrome
Split foot deformity-mandibulofacial dysostosis syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|183700 +244 244|PCD|-|Autosomal dominant
or Autosomal recessive
or X-linked dominant|Neonatal|215518 215520 242670 242680 244400 606763 608644 608646 608647 610852 611884 612274 612444 612518 612649 612650 613193 613807 613808 614017 614679 614874 614935 615067 615294 615444 615451 615481 615482 615500 615504 615505 615872 616037 616481 616726 617091 617092 +2440 2440|Ectrodactyly
Lobster-claw deformity
SHFM
Split hand foot malformation|1-9 / 100 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Infancy
Neonatal|183600 225300 246560 313350 605289 606708 +2442 2442|Duncan disease
Purtilo syndrome
XLP|<1 / 1 000 000|X-linked recessive|Childhood|300635 308240 +244242 244242|Hemolysis, elevated liver enzymes, low platelets in pregnancy
Hemolysis-elevated liver enzymes-low platelets syndrome|Unknown|Multigenic/multifactorial|Adult| +244275 244275|-|-|-|-| +244283 244283|BASM syndrome|Unknown|Multigenic/multifactorial|Infancy
Neonatal| +2443 2443|Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies
OXPHOS disease due to nDNA anomalies
OXPHOS disease due to nuclear DNA anomalies|1-9 / 100 000|Autosomal recessive|All ages| +244305 244305|-|<1 / 1 000 000|Autosomal dominant|Adult|612286 612287 +244310 244310|CDG syndrome type In
CDG-In
CDG1N
Carbohydrate deficient glycoprotein syndrome type In
Congenital disorder of glycosylation type 1n
Congenital disorder of glycosylation type In
Man5GlcNAc2-PP-Dol flippase deficiency|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|612015 +2444 2444|CCAM
CPAM
Congenital cystic adenomatoid malformation of the lung
Congenital cystic adenomatous malformation of the lung
Congenital cystic disease of the lung|-|-|Antenatal
Neonatal| +2445 2445|-|-|-|-|217095 +2447 2447|-|-|-|-| +245 245|Mandibulofacial dysostosis with preaxial limb anomalies
NAFD
Nager acrofacial dysostosis
Preaxial acrodysostosis|Unknown|Autosomal dominant
or Autosomal recessive
or Not applicable|Neonatal
Antenatal|154400 +2451 2451|Cutaneous and mucosal venous malformation
VMCM|<1 / 1 000 000|Autosomal dominant|All ages|600195 +2454 2454|Stalker-Chitayat syndrome|<1 / 1 000 000|-|Neonatal|193250 +2456 2456|Isolated polythelia|-|-|-|163700 +2457 2457|MAD|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|248370 608612 +2459 2459|Mansonellosis|<1 / 1 000 000|Not applicable|All ages| +246 246|Acrofacial dysostosis, Genee-Wiedmann type
Mandibulfacial dysostosis with postaxial limb anomalies
Miller syndrome
POADS
Postaxial acrodysostosis|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|263750 +2460 2460|Marden-Walker-like syndrome
VDEGS|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|600920 +2461 2461|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|248700 +2462 2462|Marfanoid craniosynostosis syndrome
SGS|<1 / 1 000 000|Autosomal dominant
or Multigenic/multifactorial
or Not applicable|Infancy
Neonatal|182212 +2463 2463|-|<1 / 1 000 000|-|Infancy
Childhood|248770 +2464 2464|-|<1 / 1 000 000|-|Childhood
Adult|223330 +2466 2466|Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|Unknown|X-linked recessive|Neonatal|303350 +2467 2467|Mast cell disease|1-9 / 100 000|Not applicable|All ages| +247 247|ARVC
ARVD
Arrhythmogenic right ventricular dysplasia|1-5 / 10 000|Autosomal dominant
or Autosomal recessive|Adolescent
Adult| +2470 2470|Anophthalmia-pulmonary hypoplasia syndrome
MCOPS9
Syndromic microphthalmia type 9|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|601186 615524 +2471 2471|-|<1 / 1 000 000|-|Neonatal
Infancy|248950 +247165 247165|Erythroedema polyneuritis
Feer disease
Infantile acrodynia
Infantile mercury intoxication
Pink disease
Swift disease
Swift-Feer disease|Unknown|Not applicable|Childhood| +247198 247198|PCCA|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615851 +247203 247203|BDC
Bellini carcinoma
Bellini duct carcinoma
CDC|-|Not applicable|Adult| +247234 247234|Idiopathic late-onset cerebellar ataxia
SAOA|1-9 / 100 000|Not applicable|Adult
Elderly| +247239 247239|-|-|Not applicable|Adult| +247242 247242|-|-|-|-| +247245 247245|-|Unknown|Not applicable|All ages| +247257 247257|Inhalation anthrax disease
Pulmonary anthrax
Respiratory anthrax
Respiratory anthrax disease|1-9 / 1 000 000|Not applicable|All ages| +247262 247262|HPMR
Mabry syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|239300 614207 614749 615716 616025 616809 +2473 2473|Hydrometrocolpos-postaxial polydactyly syndrome
Kaufman-Mckusick syndrome|Unknown|Autosomal recessive|Childhood|236700 +247353 247353|GPP|1-9 / 1 000 000|Autosomal recessive
or Not applicable|Adult|614204 616106 +247378 247378|Autosomal recessive secondary erythrocytosis not associated with VHL gene
Autosomal recessive secondary erythrocytosis, non-Chuvash type
Autosomal recessive secondary polycythemia, non-Chuvash type|Unknown|Autosomal recessive|Infancy
Neonatal| +2475 2475|-|<1 / 1 000 000|-|Neonatal
Infancy|277740 +247511 247511|Autosomal dominant secondary erythrocytosis|Unknown|Autosomal dominant|Infancy
Neonatal|609820 611783 +247522 247522|-|<1 / 1 000 000|X-linked recessive|Childhood|300455 +247525 247525|ASS deficiency
Argininosuccinate synthase deficiency
Argininosuccinate synthetase deficiency
Argininosuccinic acid synthase deficiency
Argininosuccinic acid synthetase deficiency
CTLN1
Citrullinemia type 1
Classic citrullinemia|1-9 / 100 000|Autosomal recessive|All ages|215700 +247546 247546|Acute neonatal citrullinemia type 1
Classic citrullinemia type 1
Classic citrullinemia type I|-|Autosomal recessive|Infancy
Neonatal| +247573 247573|Adult-onset citrullinemia type 1
Late-onset citrullinemia type 1
Late-onset citrullinemia type I|-|Autosomal recessive|Adult| +247582 247582|-|Unknown|Autosomal recessive|All ages| +247585 247585|Adult-onset citrin deficiency
Adult-onset type 2 citrullinemia
Adult-onset type II citrullinemia
CTLN2
Citrullinemia type 2|Unknown|Autosomal recessive|Adult|603471 +247598 247598|NICCD
Neonatal intrahepatic cholestasis caused by citrin deficiency|Unknown|Autosomal recessive|Infancy
Neonatal|605814 +2476 2476|Medeira-Dennis-Donnai syndrome|<1 / 1 000 000|-|Antenatal| +247604 247604|JPLS
Juvenile PLS|<1 / 1 000 000|Autosomal recessive|Childhood|606353 +247623 247623|Perinatal lethal Rathburn disease
Perinatal lethal phosphoethanolaminuria|Unknown|Autosomal recessive|Neonatal
Antenatal|241500 +247638 247638|Prenatal benign Rathburn disease
Prenatal benign phosphoethanolaminuria|Unknown|Autosomal dominant
or Autosomal recessive|Antenatal
Neonatal| +247651 247651|Infantile Rathburn disease
Infantile phosphoethanolaminuria|Unknown|Autosomal recessive|Infancy
Neonatal|241500 +247667 247667|Childhood-onset Rathburn disease
Childhood-onset phosphoethanolaminuria|Unknown|Autosomal dominant
or Autosomal recessive|Childhood
Infancy|241510 +247676 247676|Adult Rathburn disease
Adult phosphoethanolaminuria|Unknown|Autosomal dominant
or Autosomal recessive|Adult|146300 +247685 247685|-|Unknown|Autosomal dominant
or Autosomal recessive|Adult|146300 +247691 247691|RVCL|Unknown|Autosomal dominant|-|192315 +247698 247698|MEN2A
PTC syndrome
Sipple syndrome|-|Autosomal dominant|Childhood|171400 +2477 2477|Macroencephaly|-|-|-|155350 248000 +247709 247709|MEN2B
Multiple endocrine neoplasia type 3
Wagenmann-Froboese syndrome|Unknown|Autosomal dominant|Childhood|162300 +247718 247718|IMAM|-|Not applicable|-| +247724 247724|-|-|Not applicable|-| +247762 247762|-|Unknown|Not applicable|Childhood| +247765 247765|-|-|X-linked recessive
or X-linked dominant|-| +247768 247768|Müllerian duct failure and hyperandrogenism
WNT4 deficiency|Unknown|Autosomal dominant
or Not applicable|Infancy
Neonatal|158330 +247775 247775|Congenital absence of uterus and vagina
MRKH syndrome type 1
Rokitansky sequence|1-9 / 100 000|Autosomal dominant
or Not applicable|Antenatal
Adolescent|277000 +247790 247790|FTH1-associated iron overload|<1 / 1 000 000|Autosomal dominant|No data available|615517 +247794 247794|-|<1 / 1 000 000|Autosomal dominant|Childhood|612018 +247798 247798|MUTYH-related AFAP
MUTYH-related attenuated FAP
MUTYH-related attenuated familial polyposis coli|-|Autosomal dominant
or Autosomal recessive|-|608456 +2478 2478|MLC
Megalencephalic leukodystrophy
Megalencephaly-cystic leukodystrophy syndrome
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
Van der Knaap syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|604004 613925 613926 +247806 247806|APC-related AFAP
APC-related attenuated FAP
APC-related attenuated familial polyposis coli|-|Autosomal dominant
or Autosomal recessive|-|175100 +247815 247815|Mild peroxismal disorder due to PEX10 deficiency|<1 / 1 000 000|Autosomal recessive|Childhood| +247820 247820|EDSS
EDSS1|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613573 +247827 247827|EDCS
EDSS2|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613576 +247834 247834|OCMD
OMD|Unknown|Autosomal dominant|All ages|613587 +247839 247839|Pauciarticular chronic arthritis with anti-nuclear antibodies|-|-|-| +247846 247846|Pauciarticular chronic arthritis without anti-nuclear antibodies|-|-|-| +247854 247854|Polyarthritis without rheumatoid factor with anti-nuclear antibodies|-|-|-| +247861 247861|Polyarthritis without rheumatoid factor without anti-nuclear antibodies|-|-|-| +247868 247868|FCAS2
Familial cold autoinflammatory syndrome type 2
NAPS12|-|Autosomal dominant|Neonatal
Infancy|611762 +247871 247871|-|-|-|Childhood
Adolescent
Adult|193200 606579 607836 608391 608392 609400 +2479 2479|MMR syndrome
Neuhäuser syndrome|-|-|-|249310 +248 248|AR-HED
Autosomal recessive anhidrotic ectodermal dysplasia|Unknown|Autosomal recessive|Infancy
Neonatal|224900 614941 +248095 248095|Idiopathic hypertrophic osteoarthropathy
PHO|Unknown|Autosomal recessive|Infancy
Neonatal| +2481 2481|NCM
Neurocutaneous melanosis|1-9 / 100 000|Not applicable|Childhood|249400 +248111 248111|JHD
Juvenile Huntington chorea|1-9 / 1 000 000|Autosomal dominant|Adolescent
Childhood|143100 +2482 2482|-|<1 / 1 000 000|-|Neonatal| +248293 248293|-|-|-|-| +248296 248296|-|-|-|-| +2483 2483|-|Unknown|-|Childhood|155900 +248302 248302|-|-|-|-| +248305 248305|-|-|-|-| +248308 248308|Rare bleeding disorder
Rare coagulopathy|-|-|-| +248315 248315|Rare bleeding disorder due to a coagulation factors defect
Rare coagulopathy due to a coagulation factor defect|-|-|-| +248326 248326|Rare bleeding disorder due to a platelet anomaly
Rare bleeding disorder due to a thrombopathy and/or thrombocytopenia
Rare coagulopathy due to a platelet anomaly
Rare coagulopathy due to a thrombopathy and/or thrombocytopenia
Rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia|-|-|-| +248340 248340|Isolated delta-SPD
Isolated dense-SPD
Isolated dense-storage pool disease|-|-|-| +248347 248347|Rare bleeding disorder due to an acquired platelet anomaly
Rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia
Rare coagulopathy due to an acquired platelet anomaly
Rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia
Rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia|-|-|-| +248358 248358|-|-|-|-| +248361 248361|-|-|-|-| +248365 248365|-|-|-|-| +248368 248368|-|-|-|-| +2484 2484|Melnick-Needles osteodysplasty|<1 / 1 000 000|X-linked dominant|Childhood|309350 +248401 248401|-|-|-|-| +248404 248404|-|-|-|-| +248408 248408|-|-|-|-|616004 +2485 2485|-|<1 / 1 000 000|Not applicable|All ages|155950 +2487 2487|Fried-Goldberg-Mundel syndrome|<1 / 1 000 000|-|Neonatal| +2489 2489|-|<1 / 1 000 000|-|Neonatal
Infancy|274205 +249 249|-|Unknown|Not applicable|Childhood| +2491 2491|-|<1 / 1 000 000|-|Neonatal|146160 +2492 2492|Hecht-Scott syndrome|-|-|No data available| +2494 2494|Giant hypertrophic gastritis
Hypoproteinemic hypertrophic gastropathy|Unknown|Unknown
or Not applicable|Childhood
Adolescent
Adult|137280 +2495 2495|-|1-9 / 100 000|-|All ages|606190 +2496 2496|8q13 microdeletion syndrome
Del(8)q(13)
Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type
Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type
Monosomy 8q13
Verloes-David syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|600383 +2497 2497|Fryns-Hofkens-Fabry syndrome
Ulna hypoplasia|<1 / 1 000 000|-|Neonatal|191440 +2498 2498|Fusion of metacarpals 4 and 5|-|Autosomal dominant
or X-linked recessive|-|309630 +2499 2499|-|<1 / 1 000 000|Autosomal dominant|Childhood|156250 +25 25|GA1
GCDHD
Glutaric acidemia type 1
Glutaric aciduria type 1
Glutaryl-coenzyme A dehydrogenase deficiency|Unknown|Autosomal recessive|Infancy
Neonatal|231670 +250 250|Median cleft syndrome|Unknown|Not applicable|Neonatal
Antenatal| +2500 2500|Acrogeria, Gottron type
Acrometageria
Gottron syndrome|-|-|-|201200 +2501 2501|-|-|Autosomal recessive|-|250400 +250165 250165|-|-|-|-| +2502 2502|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|250420 +2504 2504|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|156510 +2505 2505|CCSF
Congenital circumferential skin folds
Kunze-Riehm syndrome
MTBS
Michelin tire baby syndrome|-|Autosomal dominant
or Autosomal recessive|-|156610 616734 +2508 2508|Proud-Levine-Carpenter syndrome|Unknown|X-linked recessive|Infancy
Neonatal|300004 +250805 250805|-|-|-|-| +250808 250808|-|-|-|-| +250811 250811|-|-|-|-| +250831 250831|LPA
Logopenic primary progressive aphasia
Logopenic variant PPA|-|Multigenic/multifactorial
or Not applicable|Adult| +250908 250908|Rare tumoral disease|-|-|-| +250923 250923|-|1-9 / 100 000|Autosomal dominant
or Not applicable|Childhood|106210 617141 617142 +250932 250932|-|-|Autosomal dominant|Childhood| +250972 250972|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613180 +250977 250977|5-amino-4-imidazole carboxamide ribosiduria
ATIC deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|608688 +250984 250984|-|<1 / 1 000 000|Autosomal recessive|Childhood|614134 614284 +250989 250989|Del(1)(q21)
Monosomy 1q21.1|Unknown|Autosomal dominant
or Not applicable|Infancy
Neonatal|612474 +250994 250994|Dup(1)(q21.1)
Trisomy 1q21.1|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal|612475 +250999 250999|1q41-q42 microdeletion syndrome
Del(1)(q41q42)
Monosomy 1q41-q42
Monosomy 1q41q42|Unknown|Not applicable
or Unknown|Infancy
Neonatal|612530 +251 251|Polyepiphyseal dysplasia|1-9 / 100 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal| +2510 2510|WARBM
Warburg micro syndrome|Unknown|Autosomal recessive|Childhood|600118 614222 614225 615663 +251004 251004|UPD(1)pat|Unknown|Not applicable
or Unknown|Infancy
Neonatal| +251009 251009|UPD(1)mat|Unknown|Not applicable
or Unknown|Infancy
Neonatal| +251014 251014|Del(2)(q31.1)
Monosomy 2q31.1|Unknown|Not applicable
or Unknown|Infancy
Neonatal| +251019 251019|2q32-q33 microdeletion syndrome
Del(2)(q32)
Del(2)(q32q33)
Monosomy 2q32
Monosomy 2q32-q33
Monosomy 2q32q33|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal|612313 +251028 251028|Del(2)(q33.1)
Monosomy 2q33.1|Unknown|Not applicable
or Unknown|Infancy
Neonatal| +251038 251038|Trisomy 3q29|Unknown|Autosomal dominant
or Not applicable|Infancy
Neonatal|611936 +251043 251043|-|Unknown|Not applicable
or Unknown|Infancy
Neonatal| +251046 251046|Del(6)(p22)
Monosomy 6p22|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal| +251056 251056|Del(6)(q25)
Monosomy 6q25|<1 / 1 000 000|Not applicable|Infancy
Neonatal|612863 +251061 251061|Del(7)(q31)
Monosomy 7q31|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal| +251066 251066|Del(8)(p11.2)
Monosomy 8p11.2|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal| +251071 251071|Del(8)(p23.1)
Monosomy 8p23.1|Unknown|Not applicable
or Unknown|Infancy
Neonatal| +251076 251076|Dup(8)(p23.1p23.1)
Trisomy 8p23.1|1-9 / 100 000|Not applicable
or Unknown|Infancy
Neonatal| +2511 2511|Richieri Costa-Guion Almeida-Ramos syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|268850 +2512 2512|MCPH
Microcephalia vera
Microcephaly vera
True microcephaly|Unknown|Autosomal recessive|Neonatal
Antenatal|251200 603802 604317 604321 604804 608393 608716 612703 614673 614852 615414 616080 616402 616486 616681 617090 +251262 251262|Osteochondritis dissecans and short stature|Unknown|Autosomal dominant|Childhood|165800 +251274 251274|FH-III
FH3
Familial hyperaldosteronism type 3|<1 / 1 000 000|Autosomal dominant|Infancy
Childhood
Adolescent|613677 +251279 251279|-|<1 / 1 000 000|Autosomal recessive|Adult|611040 +251282 251282|SPAX1|<1 / 1 000 000|Autosomal dominant|Adolescent
Adult
Childhood|108600 +251287 251287|-|<1 / 1 000 000|Autosomal dominant|Childhood|153870 +251290 251290|Parietal foramina with cleidocranial dysostosis|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|168550 +251295 251295|PPRCA|<1 / 1 000 000|Autosomal dominant
or Not applicable|All ages|172870 +2513 2513|Castro Gago-Pombo-Novo syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal|203340 +251304 251304|-|<1 / 1 000 000|Not applicable|Infancy
Neonatal| +251307 251307|Idiopathic relapsing pericarditis|Unknown|Not applicable|All ages| +251312 251312|-|-|-|-| +251316 251316|-|-|-|-| +251325 251325|-|-|-|-| +251328 251328|-|-|Not applicable|-| +251332 251332|-|-|-|-| +251347 251347|ATLD|Unknown|Autosomal recessive|Infancy
Neonatal|604391 +251355 251355|Double heterozygotes sickling disorder|-|Autosomal recessive|All ages| +251359 251359|HbS-beta-thalassemia syndrome|Unknown|Autosomal recessive|All ages| +251365 251365|HbSC disease|Unknown|Autosomal recessive|All ages| +251370 251370|HbSD disease|Unknown|Autosomal recessive|All ages| +251375 251375|HbSE disease|Unknown|Autosomal recessive|All ages| +251380 251380|HPFH-sickle cell disease syndrome|Unknown|Autosomal recessive|All ages|141749 142335 142470 305435 613566 +251383 251383|X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300831 +251393 251393|JEB-nH loc|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|226650 +2514 2514|-|-|Autosomal dominant|-|156580 616311 +2515 2515|Winship-Viljoen-Leary syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|251220 +251515 251515|DA10
Plantar flexion contracture
Short Achilles tendon
Short tendo calcaneus|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|187370 +251523 251523|Hyperzincemia and hypercalprotectinemia|<1 / 1 000 000|Unknown|Childhood|194470 +251529 251529|-|-|-|-| +251535 251535|-|-|-|-| +251558 251558|-|-|-|-| +251561 251561|-|-|-|-| +251576 251576|-|-|Not applicable|Adult| +251579 251579|-|-|Not applicable|Adult| +251582 251582|-|-|Not applicable|Adult| +251589 251589|-|-|Not applicable|Adult| +251592 251592|-|-|-|-| +251595 251595|-|-|-|-| +251598 251598|-|-|Not applicable|Childhood| +2516 2516|Ellis-Yale-Winter syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|601355 +251601 251601|-|-|-|-| +251604 251604|-|-|-|-| +251607 251607|PXA|-|Not applicable|All ages| +251612 251612|-|-|Not applicable|All ages| +251615 251615|-|-|Not applicable|All ages| +251618 251618|SEGA|-|-|-| +251623 251623|-|-|Not applicable|Adult| +251627 251627|-|-|Not applicable|All ages|137800 616568 +251630 251630|-|-|Not applicable|Adult|137800 616568 +251633 251633|-|-|-|-| +251636 251636|-|Unknown|Not applicable|All ages| +251639 251639|-|-|-|Adult| +251643 251643|-|Unknown|Not applicable|All ages
Childhood
Adolescent| +251646 251646|High-grade ependymoma|-|Not applicable|Childhood
Adolescent
Adult| +251651 251651|Mixed oligodendroglial and astrocytic tumor|-|-|-| +251656 251656|MOA
Mixed oligoastrocytoma|-|-|-| +251663 251663|aMOA|-|-|Adult| +251668 251668|-|-|-|-| +251671 251671|-|<1 / 1 000 000|-|All ages| +251674 251674|-|-|-|Adult| +251679 251679|-|-|Not applicable|Infancy
Childhood
Adolescent
Adult| +2518 2518|Pseudotoxoplasmosis syndrome|-|Autosomal recessive|-|251270 616335 +251852 251852|-|-|-|-| +251855 251855|-|-|-|Infancy
Neonatal| +251858 251858|MBEN|-|Not applicable|Infancy
Childhood|155255 +251863 251863|-|-|Not applicable|Adult|155255 +251867 251867|-|-|-|Childhood|155255 +251870 251870|CNS PNET
Central nervous system PNET|-|Not applicable|Childhood| +251877 251877|-|-|Not applicable|Infancy
Childhood| +251880 251880|-|-|Not applicable|Infancy
Neonatal| +251883 251883|-|-|Not applicable|Infancy
Childhood| +251896 251896|-|-|-|-| +251899 251899|-|1-9 / 1 000 000|Autosomal dominant|Childhood|260500 +2519 2519|-|<1 / 1 000 000|Unknown|Infancy
Neonatal| +251902 251902|Atypical CPP
Atypical choroid plexus papilloma|-|-|-| +251905 251905|-|-|-|-| +251909 251909|-|-|Not applicable|Infancy
Childhood
Adolescent
Adult| +251912 251912|-|-|-|-| +251915 251915|PTPR|-|Not applicable|All ages| +251919 251919|-|-|-|-| +251924 251924|-|-|-|-| +251927 251927|EVN|-|-|-| +251931 251931|-|-|Not applicable|Adult| +251934 251934|-|-|-|-| +251937 251937|-|-|-|-| +251940 251940|DIA/DIG|-|Not applicable|Infancy
Neonatal| +251946 251946|DNET|-|Not applicable|All ages| +251949 251949|-|-|-|-| +251957 251957|-|-|-|-| +251962 251962|PGNT
Pseudopapillary ganglioglioneurocytoma
Pseudopapillary neurocytoma with glial differentiation|-|-|-| +251975 251975|DNT of the cerebellum
Dysembryoplastic neuroepithelial tumor of cerebellum
RGNT|-|-|-| +251992 251992|-|-|-|-| +251995 251995|Primary germ cell tumor of CNS|-|-|-| +252006 252006|Endodermal sinus tumor of CNS
Endodermal sinus tumor of central nervous system
Intracranial endodermal sinus tumor
Intracranial yolk sac tumor
Yolk sac tumor of CNS|-|-|-| +252015 252015|-|-|-|-| +252018 252018|-|-|-|-| +252021 252021|Mixed germ cell tumor of CNS|-|-|-| +252025 252025|-|-|-|-| +252028 252028|Primary melanocytic lesion of CNS
Primary melanocytic lesion of central nervous system
Primary melanocytic tumor of CNS|-|-|-| +252031 252031|DLM
Leptomeningeal melanomatosis|-|-|-| +252046 252046|-|-|-|-| +252050 252050|-|-|-|-| +252054 252054|-|-|-|Adult| +252057 252057|Rare tumor of cranial and spinal nerves|-|-|-| +2521 2521|Halal syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal| +252128 252128|-|-|-|-| +252131 252131|BPNST|-|-|-| +252164 252164|Neurilemmoma
Neurilemoma
Peripheral fibroblastoma|1-9 / 100 000|-|-| +252175 252175|Acoustic neurilemoma
Acoustic neurinoma
Acoustic neuroma|-|-|-| +252183 252183|-|-|-|-| +252190 252190|-|-|-|-| +2522 2522|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|251250 +252202 252202|CMMR-D syndrome|-|Autosomal recessive|Childhood|276300 +252206 252206|Melanoma-astrocytoma syndrome|-|Autosomal dominant
or Unknown|-|155755 +252212 252212|MPNST with rhabdomyosarcomatous differentiation
MTT
Malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation|Unknown|-|All ages| +2523 2523|Franek-Bocker-Kahlen syndrome|<1 / 1 000 000|-|Neonatal| +2524 2524|PCH2|Unknown|Autosomal recessive|Infancy
Neonatal|277470 612389 612390 613811 617026 +2526 2526|MLCRD|<1 / 1 000 000|Autosomal dominant|Neonatal|152950 +2528 2528|Seemanova-Lesny syndrome|<1 / 1 000 000|-|Neonatal
Infancy| +253 253|SED and SEMD|Unknown|-|All ages| +2533 2533|Kawashima-Tsuji syndrome|<1 / 1 000 000|-|Neonatal
Infancy|156620 +2535 2535|-|<1 / 1 000 000|-|-| +2536 2536|-|<1 / 1 000 000|-|Neonatal
Infancy
Childhood|156700 +2538 2538|-|<1 / 1 000 000|Not applicable|Infancy
Neonatal|156810 +254 254|-|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Infancy| +2542 2542|MAC spectrum
Microphthalmia-anophthalmia-coloboma spectrum|1-9 / 100 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Infancy
Neonatal|156850 251600 610093 611038 613094 613517 613704 615113 +254334 254334|RI-CMT type B|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613641 +254343 254343|Autosomal recessive spastic ataxia type 4
SPAX4|<1 / 1 000 000|Autosomal recessive|Childhood|613672 +254346 254346|Del(19)(p13.12)
Monosomy 19p13.12|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal| +254351 254351|Distal del(7)(q11.23)
Distal monosomy 7q11.23|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal|613729 +254361 254361|Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
LGMD2Q|<1 / 1 000 000|Autosomal recessive|Childhood|613723 +254367 254367|Rare LP|Unknown|-|All ages| +254370 254370|Rare cutaneous LP|-|-|-| +254373 254373|Rare mucosal LP|-|-|-| +254379 254379|Blaschkoid LP
Blaschkoid lichen planus
Linear LP|Unknown|-|All ages| +254395 254395|Actinic LP
Lichen planus actinus
Lichen planus subtropicus
Lichen planus tropicus
Lichenoid melanodermatitis
Summertime actinic lichenoid eruption|Unknown|-|All ages| +254411 254411|Annular atrophic LP|<1 / 1 000 000|-|Adult| +254424 254424|Annular LP|Unknown|-|All ages| +254449 254449|Atrophic LP|Unknown|-|All ages| +254463 254463|LP pigmentosa
LP pigmentosus
Lichen planus pigmentosa
Lichen planus pigmentosus inversus|Unknown|-|Adult| +254478 254478|LP pemphigoides|<1 / 1 000 000|-|All ages| +254492 254492|FFA|Unknown|-|Adult| +254504 254504|Inhalation botulism|<1 / 1 000 000|-|Adult| +254509 254509|Inadvertent botulism|<1 / 1 000 000|-|All ages| +254516 254516|-|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal|616222 +254519 254519|MCA due to 14q32.2 maternally expressed gene defect|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal|608149 +254525 254525|Paternal del(14)(q32.2)
Paternal monosomy 14q32.2|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal| +254528 254528|Maternal del(14)(q32.2)
Maternal monosomy 14q32.2|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal| +254531 254531|-|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal| +254534 254534|-|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal| +254685 254685|-|-|-|-| +254688 254688|Complete molar pregnancy|Unknown|Autosomal recessive
or Not applicable|Adult|231090 614293 +254693 254693|Incomplete hydatidiform mole
Incomplete molar pregnancy
Partial molar pregnancy|Unknown|Not applicable|Adult| +254698 254698|-|Unknown|Not applicable|Adult| +2547 2547|Thomas-Jewett-Raines syndrome|-|-|Antenatal
Neonatal| +254704 254704|-|Unknown|Autosomal dominant|No data available| +254746 254746|-|-|-|-| +254749 254749|Citric acid cycle disorder
Krebs cycle disorder
TCA cycle disorder|-|-|-| +254758 254758|Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies
OXPHOS disease due to mitochondrial DNA anomalies
OXPHOS disease due to mtDNA anomalies|-|-|-| +254767 254767|Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA
OXPHOS disease due to a large-scale single deletion of mitochondrial DNA
OXPHOS disease due to a large-scale single deletion of mtDNA|-|-|-| +254776 254776|Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA
OXPHOS disease due to a point mutation of mitochondrial DNA
OXPHOS disease due to a point mutation of mtDNA|-|-|-| +254788 254788|-|-|-|-| +254793 254793|Mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA
OXPHOS disease due to a duplication of mitochondrial DNA
OXPHOS disease due to a duplication of mtDNA|-|-|-| +254803 254803|mtDNA depletion syndrome, encephalomyopathic form|-|Autosomal recessive|Infancy
Neonatal|612073 612075 +254807 254807|Multiple mtDNA deletion syndrome|-|-|-| +254818 254818|-|-|-|-| +254822 254822|OXPHOS disease with no known mechanism|-|-|-| +254827 254827|-|-|-|-| +254830 254830|-|-|-|-| +254834 254834|-|-|-|-| +254837 254837|-|-|-|-| +254843 254843|-|-|-|-| +254846 254846|Isolated respiratory chain complex disorder|-|-|-| +254851 254851|-|-|Mitochondrial inheritance|Childhood| +254854 254854|-|-|Mitochondrial inheritance|-| +254857 254857|LIMD
Lethal infantile mitochondrial disease|-|Mitochondrial inheritance|Infancy
Neonatal|551000 +254864 254864|Benign COX deficiency
Infantile reversible cytochrome C oxidase deficiency myopathy
Mitochondrial myopathy with reversible COX deficiency
Mitochondrial myopathy with reversible complex IV deficiency
Reversible infantile cytochrome C oxidase deficiency
Reversible infantile respiratory chain deficiency|-|Mitochondrial inheritance|Infancy
Neonatal|500009 +254871 254871|Deoxyguanosine kinase deficiency
mtDNA depletion syndrome, hepatocerebral form|-|Autosomal recessive|Infancy
Neonatal| +254875 254875|mtDNA depletion syndrome, myopathic form|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|609560 +254881 254881|MSCAE
Mitochondrial spinocerebellar ataxia with epilepsy
SCAE|-|Autosomal recessive|Adolescent
Childhood|607459 +254886 254886|arPEO|-|Autosomal recessive|All ages|258450 617069 +254892 254892|adPEO|-|-|-|157640 609283 609286 610131 613077 +254898 254898|Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome|-|Autosomal recessive|Infancy
Neonatal|614651 +2549 2549|Hemifacial microsomia-radial defects syndrome
Moeschler-Clarren syndrome|-|-|-|141400 +254902 254902|-|-|Autosomal recessive|Infancy
Neonatal|124000 +254905 254905|Isolated COX deficiency
Isolated mitochondrial respiratory chain complex IV deficiency|-|Mitochondrial inheritance
or Autosomal recessive|-|220110 +254913 254913|Isolated mitochondrial respiratory chain complex V deficiency|-|Autosomal recessive|Neonatal|604273 614053 615228 +254920 254920|COXPD2|<1 / 1 000 000|Autosomal recessive|Neonatal|610498 +254925 254925|COXPD4|<1 / 1 000 000|Autosomal recessive|Neonatal|610678 +254930 254930|COXPD7|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood|613559 +255 255|HPD with diurnal fluctuation
Hereditary progressive dystonia with diurnal fluctuation|1-9 / 1 000 000|Autosomal dominant
or Autosomal recessive
or Not applicable|Childhood| +2551 2551|Verloes-Van Maldergem-de Marneffe syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|157151 +255117 255117|-|-|Autosomal dominant|All ages| +255132 255132|GLRX5-related sideroblastic anemia|<1 / 1 000 000|Autosomal recessive|Adult|616860 +255138 255138|PDHBD
Pyruvate dehydrogenase complex E1 component subunit beta deficiency|Unknown|Autosomal recessive|Childhood|614111 +255182 255182|2-oxoglutarate complex deficiency
Branched chain alpha-ketoacid dehydrogenase complex deficiency
Diaphorase deficiency
Dihydrolipoyl dehydrogenase deficiency
Glycine cleavage system L protein deficiency
Lipoamide dehydrogenase deficiency
Pyruvate dehydrogenase complex component E3 deficiency
Pyruvate dehydrogenase protein X component deficiency|Unknown|Autosomal recessive|Infancy
Neonatal|245349 +2552 2552|-|Unknown|Not applicable|All ages| +255210 255210|MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy|-|Mitochondrial inheritance|Childhood
Infancy|256000 +255229 255229|Navajo neuropathy|<1 / 1 000 000|Autosomal recessive|Childhood|256810 +255235 255235|mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|612075 +255241 255241|Infantile subacute necrotizing encephalopathy with leukodystrophy
Leigh disease with leukodystrophy|-|Autosomal recessive|Infancy
Neonatal|256000 616277 +255249 255249|Infantile subacute necrotizing encephalopathy with nephrotic syndrome
Leigh disease with nephrotic syndrome|-|Autosomal recessive|Infancy
Neonatal|607426 614652 +2554 2554|Meier-Gorlin syndrome|<1 / 1 000 000|Autosomal recessive
or Autosomal dominant|Antenatal
Neonatal|224690 613800 613803 613804 613805 616835 617063 +2556 2556|MCOPS7
MIDAS syndrome
MLS syndrome
Microphthalmia-dermal aplasia-sclerocornea syndrome
Syndromic microphthalmia type 7|<1 / 1 000 000|X-linked dominant|Infancy
Neonatal|300887 300952 309801 +2557 2557|Intellectual disability, Mietens-Weber type|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|249600 +2558 2558|Microcephaly-hypergonadotropic hypogonadism-short stature syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +256 256|DYT1
Dystonia musculorum deformans
EOTD
Early-onset generalized torsion dystonia
Early-onset primary dystonia
Early-onset torsion dystonia
Idiopathic dystonia
Idiopathic torsion dystonia
Oppenheim dystonia|1-9 / 1 000 000|Autosomal dominant|Adolescent
Childhood
Adult|128100 602554 +2560 2560|-|<1 / 1 000 000|Not applicable|Infancy
Neonatal| +2561 2561|Pyramidal molar-glaucoma-upper abnormal lip syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|200970 +2563 2563|Macrocephaly-obesity-mental disability-ocular abnormalities syndrome
Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|157980 +2564 2564|Sommer-Hines syndrome|-|-|-|187510 +2565 2565|Skeletal dysplasia-brachydactyly syndrome|<1 / 1 000 000|X-linked dominant|Infancy
Neonatal|301940 +2566 2566|CAEBV syndrome
Chronic EBV infection syndrome|-|Unknown|-|226990 +257 257|EBS-MD
Limb-girdle muscular dystrophy with epidermolysis bullosa simplex|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|226670 +2570 2570|Holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome
Morse-Rawnsley-Sargent syndrome|-|-|-|306990 +2571 2571|Woods-Black-Norbury syndrome|<1 / 1 000 000|X-linked dominant|Infancy
Neonatal|300076 +2572 2572|Bedouin spastic ataxia syndrome
Mousa-Al Din-Al Nassar syndrome
Spastic ataxia-ocular anomalies syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|271320 +2573 2573|-|1-9 / 1 000 000|Multigenic/multifactorial
or Autosomal dominant
or Autosomal recessive
or X-linked recessive|All ages|252350 607151 608796 614042 +2574 2574|Alopecia-epilepsy-intellectual disability syndrome, Moynahan type|-|-|-|203600 +2575 2575|Lubani-Al Saleh-Teebi syndrome|<1 / 1 000 000|Autosomal recessive|Infancy|219721 +2576 2576|MULIBREY dwarfism
Muscle-liver-brain-eye nanism
Perheentupa syndrome
Pericardial constriction-growth failure syndrome|Unknown|Autosomal recessive|Infancy
Neonatal|253250 +2578 2578|Atypical MRKH syndrome
MRKH syndrome type 2
MURCS association
Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome|1-9 / 100 000|Autosomal dominant
or Not applicable|Antenatal
Adolescent|601076 +2579 2579|Furukawa-Takagi-Nakao syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|158500 +258 258|CMD1A
Congenital muscular dystrophy due to laminin alpha2 deficiency
MDC1A
Merosin-negative congenital muscular dystrophy|1-9 / 1 000 000|Autosomal recessive|Neonatal|607855 +2580 2580|-|-|-|-| +2582 2582|-|-|Not applicable|All ages| +2583 2583|Madura foot|Unknown|Not applicable|All ages| +2584 2584|Mycosis fungoides, Alibert-Bazin type|Unknown|Not applicable
or Multigenic/multifactorial|Adult|254400 +2585 2585|Myelocerebellar disorder|-|Autosomal dominant|-|159550 +2587 2587|MPO deficiency|-|-|All ages|254600 +2588 2588|Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|139210 +2589 2589|-|<1 / 1 000 000|Autosomal dominant|Childhood|159800 +2590 2590|Hereditary myoclonus-progressive distal muscular atrophy syndrome
Jankovic-Rivera syndrome|<1 / 1 000 000|Autosomal recessive|No data available|159950 +2591 2591|-|Unknown|Autosomal dominant
or Autosomal recessive
or Not applicable|Infancy
Neonatal|228550 615293 +2593 2593|-|-|Autosomal dominant|-|160565 615883 +2596 2596|-|-|-|-|500002 +25968 25968|-|-|-|-|132090 +2597 2597|Mitochondrial myopathy-lactic acidosis-hearing loss syndrome|-|-|-|251950 +2598 2598|MLASA
MSA
Myopathy, lactic acidosis and sideroblastic anemia|<1 / 1 000 000|Autosomal recessive|Adolescent
Childhood|500011 600462 613561 +25980 25980|Vacuolar myopathy
XMEA|<1 / 1 000 000|X-linked recessive|Childhood|310440 +26 26|Combined defect in adenosylcobalamin and methylcobalamin synthesis
Methylmalonic aciduria with homocystinuria|Unknown|Autosomal recessive
or X-linked recessive|All ages|277380 277400 277410 614857 +2601 2601|-|-|-|-| +260305 260305|ARSA
Congenital sideroblastic anemia|-|Autosomal recessive|Neonatal
Infancy|182170 205950 +2604 2604|Familial hollow visceral myopathy
Hereditary hollow visceral myopathy
Megaduodenum and/or megacystis|Unknown|Autosomal dominant|All ages|155310 +2608 2608|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|310465 +2609 2609|Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency|Unknown|Autosomal recessive
or X-linked dominant
or Mitochondrial inheritance|All ages|252010 +261 261|EDMD|1-9 / 1 000 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Childhood|181350 300696 310300 612998 612999 614302 616516 +26106 26106|FDGC
Familial diffuse cancer of stomach
Familial diffuse gastric cancer
HDGC
Hereditary diffuse cancer of stomach
Hereditary diffuse gastric adenocarcinoma|Unknown|Autosomal dominant|Adult|137215 +2611 2611|Linear hamartoma syndrome|-|-|-| +261102 261102|Distal dup(7)(q11.23)
Distal trisomy 7q11.23|<1 / 1 000 000|-|-| +261112 261112|9p deletion syndrome
9p- syndrome
Alfi syndrome|-|-|-|158170 +261120 261120|Del(14)(q11.2)
Monosomy 14q11.2|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal|613457 +261144 261144|Del(14)(q12)
Monosomy 14q12|<1 / 1 000 000|-|Infancy
Neonatal| +261183 261183|Del(15)(q11.2)
Monosomy 15q11.2|<1 / 1 000 000|-|-|615656 +261190 261190|Del(15)(q14)
Monosomy 15q14|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal|616898 +261197 261197|Proximal del(16)(p11.2)
Proximal monosomy 16p11.2|1-5 / 10 000|Autosomal dominant
or Not applicable|Childhood|611913 +2612 2612|Nevus sebaceus of Jadassohn
Nevus sebaceus syndrome
Organoid nevus syndrome
Schimmelpenning syndrome
Solomon syndrome|Unknown|Not applicable|Childhood|163200 +261204 261204|Dup(16)(p11.2p12.2)
Trisomy 16p11.2p12.2|Unknown|-|-| +261211 261211|16p11.2-p12.2 microdeletion syndrome
Del(16)(p11.2p12.2)
Monosomy 16p11.2-p12.2
Monosomy 16p11.2p12.2|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal|613604 +261222 261222|Distal del(16)(p11.2)
Distal monosomy 16p11.2|Unknown|-|-|613444 +261229 261229|Dup(14)(q11.2)
Trisomy 14q11.2|<1 / 1 000 000|-|-| +261236 261236|Del(16)(p13.11)
Monosomy 16p13.11|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal| +261243 261243|Dup(16)(p13.11)
Trisomy 16p13.11|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal| +261250 261250|Del(16)(q24.3)
Monosomy 16q24.3|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal| +261257 261257|Distal del(17)(p13.3 )
Distal monosomy 17p13.3|<1 / 1 000 000|-|-| +261265 261265|Del(17)(q12)
Monosomy 17q12|Unknown|-|-|614527 +261272 261272|Dup(17)(q12)
Trisomy 17q12|<1 / 1 000 000|-|-|614526 +261279 261279|17q23.1-q23.2 microdeletion syndrome
Del(17)(q23.1q23.2)
Monosomy 17q23.1-q23.2
Monosomy 17q23.1q23.2|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal|613355 +261290 261290|Dup(17p)|Unknown|Not applicable
or Unknown|Infancy
Neonatal| +261295 261295|Del(20)(p12.3)
Monosomy 20p12.3|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal| +2613 2613|Salcedo syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|256020 +261304 261304|Paternal 20q13.2-q13.3 microdeletion syndrome
Paternal del(20)(q13.2q13.3)
Paternal monosomy 20q13.2-q13.3
Paternal monosomy 20q13.2q13.3|<1 / 1 000 000|-|Antenatal
Neonatal| +261311 261311|Del(20)(q13.33)
Monosomy 20q13.33|Unknown|-|-| +261318 261318|Dup(20p)
Duplication of 20p
Partial duplication of chromosome 20p
Partial duplication of the short arm of chromosome 20
Partial trisomy of chromosome 20p
Partial trisomy of the short arm of chromosome 20|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal| +261323 261323|21q22.11-q22.12 microdeletion syndrome
Del(21)(q22.11q22.12)
Monosomy 21q22.11-q22.12
Monosomy 21q22.11q22.12|<1 / 1 000 000|-|-| +261330 261330|Distal del(22)(q11.2)
Distal monosomy 22q11.2|Unknown|-|-|611867 +261337 261337|Distal dup(22)(q11.2)
Distal trisomy 22q11.2|Unknown|-|-| +261344 261344|Duplication 1q|-|-|-| +261349 261349|2p15-p16.1 microdeletion syndrome
Del(2)(p15p16.1)
Monosomy 2p15-p16.1
Monosomy 2p15p16.1|<1 / 1 000 000|-|Infancy
Neonatal|612513 +26137 26137|Non-giant cell granulomatous temporal arteritis with eosinophilia|<1 / 1 000 000|Unknown|Childhood| +2614 2614|Onychoosteodysplasia
Turner-Kieser syndrome|1-9 / 100 000|Autosomal dominant|Neonatal
Infancy
Childhood|161200 +261476 261476|Del(X)(p21)
Glycerol kinase deficiency-contiguous gene syndrome
Xp21 microdeletion syndrome|<1 / 1 000 000|-|Infancy
Neonatal|300679 +261483 261483|Dup(X)(q27.3q28)
Trisomy Xq27.3-q28
Trisomy Xq27.3q28
Xq27.3-q28 microduplication syndrome|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300869 +261494 261494|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|610253 +2615 2615|Amyotrophy-fat tissue anomaly syndrome
NNS
Secondary hypertrophic osteoperiostosis with pernio|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|256040 +261501 261501|Atypical Norrie disease due to Xp11.3 microdeletion
Atypical Norrie disease due to del(X)(p11.3)|Unknown|-|-| +261519 261519|UPD(X)mat|Unknown|-|-| +261524 261524|UPD(X)pat|Unknown|-|-| +261529 261529|r(Y)|Unknown|-|-| +261537 261537|Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)|-|-|-| +261552 261552|Hirschsprung disease and intellectual disability due to a ZEB2 point mutation|-|-|-| +261559 261559|-|Unknown|Autosomal dominant
or Not applicable|Antenatal
Neonatal| +261572 261572|Blepharophimosis types 1 and 2 due to a point mutation|Unknown|Not applicable
or Autosomal dominant|Antenatal
Neonatal| +261579 261579|Blepharophimosis types 1 and 2 due to copy number variations
Blepharophimosis-epicanthus inversus-ptosis due to a CNV|Unknown|Autosomal dominant
or Not applicable|Antenatal
Neonatal| +261584 261584|Colorectal adenomatous polyposis due to monosomy 5q22.2
FAP due to monosomy 5q22.2
Familial adenomatous polyposis due to del(5)(q22.2)
Familial adenomatous polyposis due to monosomy 5q22.2
Familial polyposis coli due to monosomy 5q22.2|-|-|-| +2616 2616|3-M syndrome
Dolichospondylic dysplasia
Gloomy face syndrome
Le Merrer syndrome
Yakut short stature syndrome|Unknown|Autosomal recessive|Infancy
Neonatal|273750 612921 614205 +261600 261600|Alagille syndrome due to del(20)(p12)
Alagille syndrome due to monosomy 20p12
Alagille-Watson syndrome due to monosomy 20p12
Arteriohepatic dysplasia due to monosomy 20p12
Syndromic bile duct paucity due to monosomy 20p12|Unknown|-|-|118450 +261619 261619|Alagille-Watson syndrome due to a JAG1 point mutation
Arteriohepatic dysplasia due to a JAG1 point mutation
Syndromic bile duct paucity due to a JAG1 point mutation|-|-|-|118450 +261629 261629|Alagille-Watson syndrome due to a NOTCH2 point mutation
Arteriohepatic dysplasia due to a NOTCH2 point mutation
Syndromic bile duct paucity due to a NOTCH2 point mutation|-|-|-|610205 +261638 261638|Duane-radial ray syndrome due to monosomy 20q13
Okihiro syndrome due to del(20)(q13)
Okihiro syndrome due to monosomy 20q13|Unknown|-|-| +261647 261647|Duane-radial ray syndrome due to a point mutation|-|-|-| +261652 261652|-|<1 / 1 000 000|-|-| +261697 261697|-|-|-|-| +2617 2617|-|<1 / 1 000 000|-|Neonatal
Infancy|210700 +261700 261700|-|-|-|-| +261703 261703|-|-|-|-| +261706 261706|-|-|-|-| +261709 261709|-|-|-|-| +261712 261712|-|-|-|-| +261715 261715|-|-|-|-| +261718 261718|-|-|-|-| +261721 261721|-|-|-|-| +261724 261724|-|-|-|-| +261730 261730|-|-|-|-| +261733 261733|-|-|-|-| +261736 261736|-|-|-|-| +261739 261739|-|-|-|-| +261742 261742|-|-|-|-| +261745 261745|-|-|-|-| +261748 261748|-|-|-|-| +261751 261751|-|-|-|-| +261754 261754|-|-|-|-| +261757 261757|-|-|-|-| +261760 261760|-|-|-|-| +261763 261763|-|-|-|-| +261766 261766|Partial monosomy of chromosome 1|-|-|-| +261771 261771|Partial monosomy of chromosome 2|-|-|-| +261776 261776|Partial monosomy of chromosome 3|-|-|-| +261781 261781|Partial monosomy of chromosome 4|-|-|-| +261786 261786|Partial monosomy of chromosome 5|-|-|-| +261791 261791|Partial monosomy of chromosome 6|-|-|-| +261796 261796|Partial monosomy of chromosome 7|-|-|-| +261801 261801|Partial monosomy of chromosome 8|-|-|-| +261806 261806|Partial monosomy of chromosome 9|-|-|-| +261811 261811|Partial monosomy of chromosome 10|-|-|-| +261816 261816|Partial monosomy of chromosome 11|-|-|-| +261821 261821|Partial deletion of chromosome 12q
Partial monosomy of chromosome 12q
Partial monosomy of the long arm of chromosome 12|-|-|-| +261826 261826|Partial monosomy of chromosome 16|-|-|-| +261831 261831|Partial monosomy of chromosome 17|-|-|-| +261836 261836|Partial monosomy of chromosome 18|-|-|-| +261841 261841|Partial monosomy of chromosome 19|-|-|-| +261846 261846|Partial monosomy of chromosome 20|-|-|-| +261857 261857|Partial deletion of chromosome 1p
Partial monosomy of chromosome 1p
Partial monosomy of the short arm of chromosome 1|-|-|-| +261866 261866|Partial deletion of chromosome 2p
Partial monosomy of chromosome 2p
Partial monosomy of the short arm of chromosome 2|-|-|-| +261875 261875|Partial deletion of chromosome 3p
Partial monosomy of chromosome 3p
Partial monosomy of the short arm of chromosome 3|-|-|-| +261884 261884|Partial deletion of chromosome 4p
Partial monosomy of chromosome 4p
Partial monosomy of the short arm of chromosome 4|-|-|-| +261893 261893|Partial deletion of chromosome 5p
Partial monosomy of chromosome 5p
Partial monosomy of the short arm of chromosome 5|-|-|-| +2619 2619|Mseleni joint disease|Unknown|Unknown|Childhood|613342 +261902 261902|Partial deletion of chromosome 6p
Partial monosomy of chromosome 6p
Partial monosomy of the short arm of chromosome 6|-|-|-| +261911 261911|Partial deletion of chromosome 7p
Partial monosomy of chromosome 7p
Partial monosomy of the short arm of chromosome 7|-|-|-| +261920 261920|Partial deletion of chromosome 8p
Partial monosomy of chromosome 8p
Partial monosomy of the short arm of chromosome 8|-|-|-| +261929 261929|Partial deletion of chromosome 9p
Partial monosomy of chromosome 9p
Partial monosomy of the short arm of chromosome 9|-|-|-| +261938 261938|Partial deletion of chromosome 10p
Partial monosomy of chromosome 10p
Partial monosomy of the short arm of chromosome 10|-|-|-| +261947 261947|Partial deletion of chromosome 11p
Partial monosomy of chromosome 11p
Partial monosomy of the short arm of chromosome 11|-|-|-| +261956 261956|Partial deletion of chromosome 16p
Partial monosomy of chromosome 16p
Partial monosomy of the short arm of chromosome 16|-|-|-| +261965 261965|Partial deletion of chromosome 17p
Partial deletion of the short arm of chromosome 17
Partial monosomy of chromosome 17p|-|-|-| +261974 261974|Partial deletion of chromosome 18p
Partial monosomy of chromosome 18p
Partial monosomy of the short arm of chromosome 18|-|-|-| +261983 261983|Partial deletion of chromosome 19p
Partial monosomy of chromosome 19p
Partial monosomy of the short arm of chromosome 19|-|-|-| +261992 261992|Partial deletion of chromosome 20p
Partial deletion of the short arm of chromosome 20
Partial monosomy of chromosome 20p
Pure partial 20p deletion|-|-|-| +262 262|Severe dystrophinopathy, Duchenne and Becker type|1-9 / 100 000|X-linked recessive|Childhood| +262001 262001|Partial deletion of chromosome 1q
Partial monosomy of chromosome 1q
Partial monosomy of the long arm of chromosome 1|-|-|-| +262010 262010|Partial deletion of chromosome 2q
Partial monosomy of chromosome 2q
Partial monosomy of the long arm of chromosome 2|-|-|-| +262019 262019|Partial deletion of chromosome 3q
Partial monosomy of chromosome 3q
Partial monosomy of the long arm of chromosome 3|-|-|-| +262029 262029|Partial deletion of chromosome 4q
Partial monosomy of chromosome 4q
Partial monosomy of the long arm of chromosome 4|-|-|-| +262038 262038|Partial deletion of chromosome 5q
Partial monosomy of chromosome 5q
Partial monosomy of the long arm of chromosome 5|-|-|-| +262047 262047|Partial deletion of chromosome 6q
Partial monosomy of chromosome 6q
Partial monosomy of the long arm of chromosome 6|-|-|-| +262056 262056|Partial deletion of chromosome 7q
Partial monosomy of chromosome 7q
Partial monosomy of the long arm of chromosome 7|-|-|-| +262065 262065|Partial deletion of chromosome 8q
Partial monosomy of chromosome 8q
Partial monosomy of the long arm of chromosome 8|-|-|-| +262074 262074|Partial deletion of chromosome 9q
Partial deletion of the long arm of chromosome 9
Partial monosomy of chromosome 9q|-|-|-| +262083 262083|Partial deletion of chromosome 10q
Partial deletion of the long arm of chromosome 10
Partial monosomy of chromosome 10q|-|-|-| +262092 262092|Partial deletion of chromosome 11q
Partial monosomy of chromosome 11q
Partial monosomy of the long arm of chromosome 11|-|-|-| +262101 262101|Partial deletion of chromosome 13q
Partial monosomy of chromosome 13q
Partial monosomy of the long arm of chromosome 13|-|-|-| +262110 262110|Partial deletion of chromosome 14q
Partial monosomy of chromosome 14q
Partial monosomy of the long arm of chromosome 14|-|-|-| +262119 262119|Partial deletion of chromosome 15q
Partial monosomy of chromosome 15q
Partial monosomy of the long arm of chromosome 15|-|-|-| +262128 262128|Partial deletion of chromosome 16q
Partial monosomy of chromosome 16q
Partial monosomy of the long arm of chromosome 16|-|-|-| +262137 262137|Partial deletion of chromosome 17q
Partial monosomy of chromosome 17q
Partial monosomy of the long arm of chromosome 17|-|-|-| +262146 262146|Partial deletion of chromosome 18q
Partial monosomy of chromosome 18q
Partial monosomy of the long arm of chromosome 18|-|-|-| +262155 262155|Partial deletion of chromosome 19q
Partial monosomy of chromosome 19q
Partial monosomy of the long arm of chromosome 19|-|-|-| +262164 262164|Partial deletion of chromosome 20q
Partial monosomy of chromosome 20q
Partial monosomy of the long arm of chromosome 20|-|-|-| +262173 262173|Partial deletion of chromosome 21q
Partial monosomy of chromosome 21q
Partial monosomy of the long arm of chromosome 21|-|-|-| +262182 262182|Partial deletion of chromosome 22q
Partial monosomy of chromosome 22q
Partial monosomy of the long arm of chromosome 22|-|-|-| +262191 262191|Partial trisomy of chromosome 1|-|-|-| +262196 262196|Partial trisomy of chromosome 2|-|-|-| +262201 262201|Partial trisomy of chromosome 3|-|-|-| +262206 262206|Partial trisomy of chromosome 4|-|-|-| +262211 262211|Partial duplication/triplication of chromosome 5|-|-|-| +2623 2623|Geleophysic dwarfism|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Childhood|231050 614185 +262628 262628|Partial trisomy of chromosome 6|-|-|-| +262633 262633|Partial trisomy of chromosome 7|-|-|-| +262638 262638|Partial trisomy of chromosome 8|-|-|-| +262643 262643|Partial duplication/triplication of chromosome 9|-|-|-| +262648 262648|Partial trisomy of chromosome 10|-|-|-| +262653 262653|Partial trisomy of chromosome 11|-|-|-| +262658 262658|Partial duplication/triplication of chromosome 12p
Partial duplication/triplication of the short arm of chromosome 12
Partial trisomy/tetrasomy of chromosome 12p|-|-|-| +262672 262672|Partial trisomy of chromosome 16|-|-|-| +262677 262677|Partial trisomy of chromosome 17|-|-|-| +262682 262682|Partial duplication/triplication of chromosome 18|-|-|-| +262687 262687|Partial trisomy of chromosome 19|-|-|-| +262692 262692|Partial duplication of chromosome 20|-|-|-| +262698 262698|Partial duplication of chromosome 2p
Partial trisomy of chromosome 2p|-|-|-| +262707 262707|Partial duplication of chromosome 3p
Partial trisomy of chromosome 3p
Partial trisomy of the short arm of chromosome 3|-|-|-| +262716 262716|Partial duplication of chromosome 4p
Partial trisomy of chromosome 4p
Partial trisomy of the short arm of chromosome 4|-|-|-| +262725 262725|Partial duplication/triplication of chromosome 5p
Partial duplication/triplication of the short arm of chromosome 5
Partial trisomy/tetrasomy of chromosome 5p|-|-|-| +262740 262740|Partial duplication of chromosome 6p
Partial trisomy of chromosome 6p
Partial trisomy of the short arm of chromosome 6|-|-|-| +262749 262749|Partial duplication of chromosome 7p
Partial trisomy of chromosome 7p
Partial trisomy of the short arm of chromosome 7|-|-|-| +262758 262758|Partial duplication of chromosome 8p
Partial trisomy of chromosome 8p
Partial trisomy of the short arm of chromosome 8|-|-|-| +262767 262767|Partial duplication of chromosome 9p
Partial duplication of the short arm of chromosome 9
Partial trisomy of chromosome 9p|-|-|-| +262776 262776|Partial duplication of chromosome 10p
Partial trisomy of chromosome 10p
Partial trisomy of the short arm of chromosome 10|-|-|-| +262785 262785|Partial duplication of chromosome 11p
Partial trisomy of chromosome 11p
Partial trisomy of the short arm of chromosome 11|-|-|-| +262794 262794|Partial duplication of chromosome 16p
Partial trisomy of chromosome 16p
Partial trisomy of the short arm of chromosome 16|-|-|-| +262803 262803|Partial duplication of chromosome 17p
Partial trisomy of chromosome 17p
Partial trisomy of the short arm of chromosome 17|-|-|-| +262812 262812|Partial duplication/triplication of chromosome 18p
Partial duplication/triplication of the short arm of chromosome 18
Partial trisomy/tetrasomy of chromosome 18p|-|-|-| +262833 262833|Partial duplication of chromosome 1q
Partial trisomy of chromosome 1q
Partial trisomy of the long arm of chromosome 1|-|-|-| +262842 262842|Partial duplication of chromosome 2q
Partial trisomy of chromosome 2q
Partial trisomy of the long arm of chromosome 2|-|-|-| +262851 262851|Partial duplication of chromosome 3q
Partial trisomy of chromosome 3q|-|-|-| +262860 262860|Partial duplication of chromosome 4q
Partial trisomy of chromosome 4q
Partial trisomy of the long arm of chromosome 4|-|-|-| +262869 262869|Partial duplication of chromosome 5q
Partial duplication of the long arm of chromosome 5
Partial trisomy of chromosome 5q|-|-|-| +262878 262878|Partial duplication of chromosome 6q
Partial trisomy of chromosome 6q
Partial trisomy of the long arm of chromosome 6|-|-|-| +262887 262887|Partial duplication of chromosome 7q
Partial trisomy of chromosome 7q
Partial trisomy of the long arm of chromosome 7|-|-|-| +262896 262896|Partial duplication of chromosome 8q
Partial trisomy of chromosome 8q
Partial trisomy of the long arm of chromosome 8|-|-|-| +262905 262905|Partial duplication of chromosome 9q
Partial duplication of the long arm of chromosome 9
Partial trisomy of chromosome 9q|-|-|-| +262914 262914|Partial duplication of chromosome 10q
Partial trisomy of chromosome 10q
Partial trisomy of the long arm of chromosome 10|-|-|-| +262923 262923|Partial duplication of chromosome 11q
Partial trisomy of chromosome 11q
Partial trisomy of the long arm of chromosome 11|-|-|-| +262932 262932|Partial duplication of chromosome 13q
Partial trisomy of chromosome 13q
Partial trisomy of the long arm of chromosome 13|-|-|-| +262941 262941|Partial duplication of chromosome 14q
Partial trisomy of chromosome 14q
Partial trisomy of the long arm of chromosome 14|-|-|-| +262950 262950|Partial duplication of chromosome 15q
Partial trisomy of chromosome 15q
Partial trisomy of the long arm of chromosome 15|-|-|-| +262959 262959|Partial duplication of chromosome 16q
Partial duplication of the long arm of chromosome 16
Partial trisomy of chromosome 16q|-|-|-| +262968 262968|Partial duplication of chromosome 17q
Partial trisomy of chromosome 17q
Partial trisomy of the long arm of chromosome 17|-|-|-| +262977 262977|Partial duplication of chromosome 18q
Partial duplication of the long arm of chromosome 18
Partial trisomy of chromosome 18q|-|-|-| +262986 262986|Partial duplication of chromosome 19q
Partial trisomy of chromosome 19q
Partial trisomy of the long arm of chromosome 19|-|-|-| +262995 262995|Partial duplication of chromosome 20q
Partial duplication of the long arm of chromosome 20
Partial trisomy of chromosome 20q|-|-|-| +263 263|LGMD|1-9 / 100 000|Autosomal dominant
or Autosomal recessive|All ages| +263004 263004|Partial duplication of chromosome 22q
Partial trisomy of chromosome 22q
Partial trisomy of the long arm of chromosome 22|-|-|-| +263019 263019|UPD(1)|-|-|-| +263024 263024|UPD(6)|-|-|-| +263029 263029|UPD(7)|-|-|-| +263034 263034|UPD(11)|-|-|-| +263044 263044|UPD(13)|-|-|-| +263049 263049|UPD(14)|-|-|-| +263054 263054|UPD(15)|-|-|-| +263059 263059|UPD(20)|-|-|-| +263064 263064|UPD(21)|-|-|-| +2631 2631|Reardon-Hall-Slaney syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|249710 +2632 2632|Mesomelic dwarfism, Langer type|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|249700 +263297 263297|GSD type 15
GSD type XV
GSD with severe cardiomyopathy due to glycogenin deficiency
Glycogen storage disease type 15
Glycogen storage disease type XV
Glycogenosis type 15
Glycogenosis type XV
Glycogenosis with severe cardiomyopathy due to glycogenin deficiency|<1 / 1 000 000|Autosomal recessive|Childhood|613507 +2633 2633|Nievergelt syndrome|-|Autosomal dominant|-|163400 +263310 263310|Primary thymic epithelial neoplasm type A
Primary thymic epithelial tumor type A|Unknown|Not applicable|Adult| +263317 263317|Primary thymic epithelial neoplasm type B
Primary thymic epithelial tumor type B|Unknown|Not applicable|Adult| +263324 263324|Primary thymic epithelial neoplasm type AB
Primary thymic epithelial tumor type AB|Unknown|Not applicable|Adult| +263331 263331|-|Unknown|Not applicable|Adult| +263335 263335|-|Unknown|Not applicable|Adult| +263339 263339|-|Unknown|Not applicable|Adult| +263347 263347|Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|193220 +263352 263352|-|1-9 / 100 000|-|-| +263355 263355|-|-|-|-| +2634 2634|Reinhardt-Pfeiffer mesomelic dysplasia
Reinhardt-Pfeiffer syndrome|Unknown|Autosomal dominant|Infancy
Neonatal|191400 +263410 263410|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +263413 263413|-|<1 / 1 000 000|Not applicable|Adult| +263417 263417|Bartter syndrome type 5
Bartter syndrome type V|Unknown|Autosomal dominant|Infancy
Childhood
Adolescent
Adult|601198 +263425 263425|Nevus fusculoceruleus ophthalmomaxillaris|Unknown|Not applicable|All ages| +263432 263432|Nevus fuscocaeruleus acromiodeltoideus|1-9 / 100 000|Not applicable|All ages| +263435 263435|-|Unknown|Not applicable|Infancy
Neonatal| +263440 263440|-|<1 / 1 000 000|-|-| +263455 263455|Hyperinsulinemic hypoglycemia due to HNF4A deficiency|Unknown|Autosomal dominant|Infancy
Neonatal| +263458 263458|Hyperinsulinemic hypoglycemia due to INSR deficiency
Hyperinsulinemic hypoglycemia due to insulin receptor deficiency|<1 / 1 000 000|Autosomal dominant|All ages|609968 +263463 263463|Chondrodysplasia with congenital joint dislocations, CHST3 type
SDCD, CHST3 type
Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|143095 +263479 263479|FHI|1-9 / 1 000 000|-|-| +26348 26348|Acquired hypoprothrombinemia|-|-|-| +263482 263482|Pseudo-Morquio syndrome type 2|<1 / 1 000 000|Not applicable|Infancy
Neonatal|184095 +263487 263487|CDG syndrome type IIi
CDG-IIi
CDG2I
Carbohydrate deficient glycoprotein syndrome type IIi
Congenital disorder of glycosylation type 2i
Congenital disorder of glycosylation type IIi|<1 / 1 000 000|Autosomal recessive|Childhood|613612 +26349 26349|-|-|Not applicable|-| +263494 263494|CDG syndrome type Io
CDG-Io
CDG1O
Carbohydrate deficient glycoprotein syndrome type Io
Congenital disorder of glycosylation type 1o
Congenital disorder of glycosylation type Io|<1 / 1 000 000|Autosomal recessive|Childhood|612937 +2635 2635|Metatropic dwarfism|<1 / 1 000 000|Autosomal dominant
or Not applicable|Neonatal
Antenatal|156530 +263501 263501|CDG syndrome type IIj
CDG-IIj
CDG2J
Carbohydrate deficient glycoprotein syndrome type IIj
Congenital disorder of glycosylation type 2j
Congenital disorder of glycosylation type IIj|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613489 +263508 263508|CDG syndrome type IIg
CDG-IIg
CDG2G
Carbohydrate deficient glycoprotein syndrome type IIg
Congenital disorder of glycosylation type 2g
Congenital disorder of glycosylation type IIg|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|611209 +263516 263516|EPM3
PME type 3
Progressive myoclonic epilepsy due to KCTD7 deficiency
Progressive myoclonus epilepsy type 3|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|611726 +263524 263524|ANEC
Isolated ANE
Isolated acute necrotizing encephalopathy|Unknown|Not applicable|Childhood|614212 +263534 263534|Acral PSS
Acral deciduous skin
Localized PSS
Localized deciduous skin|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|609796 +263543 263543|Generalized PSS
Generalized deciduous skin|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|270300 616265 +263548 263548|Generalized deciduous skin type A
Generalized peeling skin syndrome type A
Non-inflammatory generalized peeling skin syndrome type A.
Non-inflammatory peeling skin syndrome type A
PSS type A|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|616265 +263553 263553|Generalized deciduous skin type B
Generalized peeling skin syndrome type B
Inflammatory peeling skin syndrome
PSS type B|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|270300 +263558 263558|Generalized deciduous skin type C|<1 / 1 000 000|Unknown|Infancy
Neonatal| +2636 2636|MOPD types I and III
Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type
Primordial microcephalic dwarfism, Crachami type
Taybi-Linder syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|210710 210730 +263662 263662|-|Unknown|Autosomal dominant|All ages|607174 +263665 263665|-|<1 / 1 000 000|Not applicable|Adult| +263676 263676|-|-|-|-| +2637 2637|MOPD type II
Majewski osteodysplastic primordial dwarfism type II|Unknown|Autosomal recessive|Infancy
Neonatal|210720 +263708 263708|-|-|-|-| +263711 263711|-|-|-|-| +263714 263714|-|-|-|-| +263717 263717|-|-|-|-| +263720 263720|-|-|-|-| +263723 263723|-|-|-|-| +263726 263726|Partial monosomy of chromosome X|-|-|-| +263731 263731|Partial deletion of chromosome Xp
Partial deletion of the short arm of chromosome X
Partial monosomy of chromosome Xp|-|-|-| +263746 263746|-|-|-|-| +263749 263749|-|-|-|-| +263756 263756|Partial deletion of chromosome Xq
Partial monosomy of chromosome Xq
Partial monosomy of the long arm of chromosome X|-|-|-| +263768 263768|Partial trisomy of chromosome X|-|-|-| +263775 263775|Partial duplication of chromosome Xp
Partial trisomy of chromosome Xp
Partial trisomy of the short arm of chromosome X|-|-|-| +263783 263783|Partial duplication of chromosome Xq
Partial trisomy of chromosome Xq
Partial trisomy of the long arm of chromosome X|-|-|-| +263793 263793|UPD(X)|-|-|-| +263798 263798|-|-|-|-| +2639 2639|Du Pan syndrome|-|Autosomal recessive|-|228900 +264 264|LGMD1B
Limb-girdle muscular dystrophy due to lamin A/C deficiency|1-9 / 1 000 000|Autosomal dominant|Adolescent
Childhood|159001 +2641 2641|-|-|-|-|601096 +264200 264200|14q22-q23 microdeletion syndrome
Del(14)(q22q23)
Monosomy 14q22-q23
Monosomy 14q22q23|<1 / 1 000 000|-|Neonatal
Infancy|609640 +2643 2643|-|<1 / 1 000 000|-|Antenatal
Neonatal|251190 +264431 264431|Partial duplication of chromosome 1p
Partial trisomy of chromosome 1p|-|-|-| +264450 264450|Duplication 8p|-|-|-| +2645 2645|-|<1 / 1 000 000|Autosomal dominant|Neonatal|166250 +264580 264580|GSD due to liver phosphorylase kinase deficiency
GSD type 9A
GSD type 9C
GSD type IXa
GSD type IXc
Glycogen storage disease type 9A
Glycogen storage disease type 9C
Glycogen storage disease type IXa
Glycogen storage disease type IXc
Glycogenosis due to liver phosphorylase kinase deficiency
Glycogenosis type 9A
Glycogenosis type 9C
Glycogenosis type IXa
Glycogenosis type IXc
XLG|Unknown|Autosomal recessive
or X-linked recessive|Childhood|306000 613027 +2646 2646|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|168400 +264656 264656|ILD specific to childhood|-|-|-| +264665 264665|Primary ILD specific to childhood|-|-|-| +264670 264670|Primary ILD specific to childhood due to alveolar structure disorder|-|-|-| +264675 264675|Congenital PAP
Congenital pulmonary alveolar proteinosis|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|300770 614370 +264683 264683|Primary ILD specific to childhood due to alveolar vascular disorder|-|-|-| +264688 264688|-|Unknown|Not applicable
or Unknown|Neonatal
Infancy|603523 +264691 264691|-|Unknown|Not applicable|Childhood| +264694 264694|ILD specific to infancy|-|-|-| +264699 264699|Secondary ILD specific to childhood associated with a systemic disease|-|-|-| +264704 264704|Secondary ILD specific to childhood associated with a connective tissue disease|-|-|-| +264709 264709|Secondary ILD specific to childhood associated with a systemic vasculitis|-|-|-| +264714 264714|Secondary ILD specific to childhood associated with a granulomatous disease|-|-|-| +264719 264719|Secondary ILD specific to childhood associated with a metabolic disease|-|-|-| +264724 264724|Histiocytosis X specific to childhood
Langerhans cell granulomatosis specific to childhood|-|-|-| +264735 264735|ILD specific to adulthood|-|-|-| +264740 264740|Primary ILD specific to adulthood|-|-|-| +264745 264745|Secondary ILD specific to adulthood associated with a systemic disease|-|-|-| +264750 264750|Histiocytosis X specific to adulthood
Langerhans cell granulomatosis specific to adulthood|-|-|-| +264757 264757|ILD in childhood and adulthood|-|-|-| +264762 264762|Primary ILD in childhood and adulthood|-|-|-| +2649 2649|Richieri Costa-Guion Almeida syndrome|<1 / 1 000 000|Autosomal recessive
or X-linked recessive|Infancy
Neonatal|608578 +264930 264930|Primary ILD in childhood and adulthood due to alveolar structure disorder|-|-|-| +264935 264935|Primary ILD in childhood and adulthood due to alveolar vascular disorder|-|-|-| +264944 264944|Secondary ILD in childhood and adulthood|-|-|-| +264949 264949|Secondary ILD in childhood and adulthood associated with a systemic disease|-|-|-| +264955 264955|Histiocytosis X in childhood and adulthood
Langerhans cell granulomatosis in childhood and adulthood|-|-|-| +264968 264968|Secondary ILD in childhood and adulthood associated with a metabolic disease|-|-|-| +264973 264973|Secondary ILD in childhood and adulthood associated with a systemic vasculitis|-|-|-| +264978 264978|-|-|-|-| +264984 264984|-|-|-|-| +264992 264992|Genetic ILD|-|-|-| +265 265|LGMD1C
Limb-girdle muscular dystrophy due to caveolin-3 deficiency|<1 / 1 000 000|Autosomal dominant|Adolescent
Adult
Childhood|607801 +2653 2653|Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +2655 2655|TD
Thanatophoric dwarfism|<1 / 1 000 000|Autosomal dominant
or Not applicable|Neonatal
Antenatal|156830 187600 187601 +2658 2658|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|151050 +266 266|LGMD1A
Limb-girdle muscular dystrophy due to myotilin deficiency|<1 / 1 000 000|Autosomal dominant|Elderly
Adult|159000 +2662 2662|Nasodigitoacoustic syndrome|-|-|-|255980 +2663 2663|Deafness-cataracts-skeletal anomalies syndrome|<1 / 1 000 000|-|Childhood|255990 +2665 2665|-|-|-|-| +2666 2666|-|<1 / 1 000 000|Unknown|Adult| +2668 2668|Edwards-Patton-Dilly syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|256120 +2669 2669|Braun-Bayer syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal|256200 +267 267|LGMD2A
Limb-girdle muscular dystrophy due to calpain deficiency
Primary calpainopathy|1-9 / 100 000|Autosomal recessive|Childhood
Adolescent
Adult|253600 +2670 2670|Microcoria-congenital nephrosis syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|609049 +2671 2671|3-Phosphoglycerate dehydrogenase deficiency, neonatal form|<1 / 1 000 000|Autosomal recessive|Antenatal|256520 616038 +2672 2672|Recurrent encephalophathy of childhood|-|-|-|130950 +2673 2673|Freire Maia-Pinheiro-Opitz syndrome|-|-|-|256690 +2674 2674|-|<1 / 1 000 000|Autosomal dominant|Antenatal
Neonatal|123853 +2676 2676|Oerter-Friedman-Anderson syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal| +2677 2677|-|Unknown|Not applicable|Childhood|612219 +2678 2678|Familial café-au-lait spots
Multiple café-au-lait spots
Multiple café-au-lait syndrome
NF6|Unknown|Autosomal dominant|Childhood|114030 +2679 2679|-|-|-|-| +26790 26790|Adenomucinosis
Gelatinous ascites
PMP|Unknown|Unknown|Adult| +26791 26791|Electron transfer flavoprotein deficiency
Electron transfer flavoprotein ubiquinone oxidoreductase deficiency
Glutaric acidemia type 2
Glutaric aciduria type 2
MAD deficiency
MADD|1-9 / 1 000 000|Autosomal recessive|All ages|231680 +26792 26792|ACADS deficiency
SCAD deficiency
SCADD|Unknown|Autosomal recessive|Neonatal
Infancy
Childhood|201470 +26793 26793|VLCAD deficiency
VLCADD|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal|201475 +268 268|LGMD2B
Limb-girdle muscular dystrophy due to dysferlin deficiency|1-9 / 1 000 000|Autosomal recessive|Adult|253601 +2680 2680|Boylan-Dew syndrome|-|-|-|616286 616287 +268114 268114|ALPS type 4
ALPS type IV
Autoimmune lymphoproliferative syndrome type 4
Autoimmune lymphoproliferative syndrome type IV
RALD|<1 / 1 000 000|Unknown|Childhood
Infancy|614470 +268129 268129|-|Unknown|Autosomal dominant|All ages|182920 +268139 268139|Orbital medulloepithelioma|Unknown|Not applicable|Childhood| +268145 268145|Classic BCKD deficiency
Classic MSUD
Classic branched-chain 2-ketoacid dehydrogenase deficiency
Classic branched-chain ketoaciduria|1-9 / 1 000 000|Autosomal recessive|Neonatal|248600 +268162 268162|Intermediate BCKD deficiency
Intermediate MSUD
Intermediate branched-chain 2-ketoacid dehydrogenase deficiency|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal|248600 615135 +268173 268173|Intermittent BCKD deficiency
Intermittent MSUD
Intermittent branched-chain 2-ketoacid dehydrogenase deficiency|Unknown|Autosomal recessive|Infancy
Neonatal
Childhood|248600 +268184 268184|Thiamine-responsive BCKD deficiency
Thiamine-responsive MSUD
Thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency|Unknown|Autosomal recessive|Infancy|248600 +268249 268249|MMF embryopathy|<1 / 1 000 000|Not applicable|Infancy
Neonatal| +268261 268261|21q22.13-q22.2 microdeletion syndrome
21q22.13q22.2 microdeletion syndrome
Del(21)(q22.13q22.2)
Monosomy 21q22.13-q22.2
Monosomy 21q22.13q22.2|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal| +268316 268316|-|1-5 / 10 000|-|-| +268322 268322|-|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive|All ages|188000 273900 313900 612004 +268337 268337|RI-CMT|-|-|-| +268357 268357|-|Unknown|-|-|182940 301410 601634 +268363 268363|-|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +268366 268366|-|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +268369 268369|-|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +268377 268377|-|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +268384 268384|-|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +268388 268388|-|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +268392 268392|-|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +268397 268397|-|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +2686 2686|-|1-9 / 1 000 000|Autosomal dominant|All ages|162800 +268740 268740|-|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +268744 268744|-|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +268748 268748|-|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +268752 268752|-|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +268758 268758|-|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +268762 268762|-|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +268766 268766|-|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +268770 268770|-|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +2688 2688|-|-|-|-|607847 +268810 268810|-|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +268813 268813|-|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +268817 268817|-|Unknown|-|-| +268820 268820|-|Unknown|-|-| +268823 268823|-|Unknown|-|-| +268826 268826|-|Unknown|-|-| +268829 268829|-|Unknown|-|-| +268832 268832|-|Unknown|-|-| +268835 268835|-|Unknown|-|-| +268838 268838|-|Unknown|-|-| +268843 268843|-|Unknown|-|-| +268861 268861|Primary tethered spinal cord syndrome|Unknown|-|-| +268865 268865|-|Unknown|-|-| +268868 268868|-|Unknown|-|-| +268882 268882|Arnold-Chiari malformation type 1
Chiari malformation type 1
Chiari malformation type I|Unknown|-|-|118420 +268920 268920|Isolated macrencephaly|Unknown|-|-| +268926 268926|Midline brain malformation|Unknown|-|-| +268936 268936|-|Unknown|-|-| +268940 268940|-|Unknown|-|-|300388 606854 610031 612691 614833 615752 616531 +268943 268943|-|Unknown|-|-| +268947 268947|-|Unknown|-|-| +268950 268950|Brain cortical dysplasia|Unknown|-|-| +268961 268961|FCD type I|Unknown|-|-| +268973 268973|FCD type Ia|Unknown|-|-| +268980 268980|FCD type Ib|Unknown|-|-| +268987 268987|FCD type Ic|Unknown|-|-| +268994 268994|Cortical dysplasia, Taylor type
FCD type II
Isolated focal cortical dysplasia type 2|Unknown|-|-|607341 +269 269|FSH dystrophy
FSHD
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
Landouzy-Dejerine myopathy|1-9 / 100 000|Autosomal dominant|Infancy
Childhood
Adolescent
Adult|158900 158901 600416 +2690 2690|-|<1 / 1 000 000|Unknown|Neonatal
Infancy| +269001 269001|FCD type IIa|Unknown|-|-|607341 +269008 269008|FCD type IIb|Unknown|-|-|607341 +269190 269190|-|-|-|-| +269194 269194|-|-|-|-| +269197 269197|-|Unknown|-|-| +269200 269200|-|Unknown|-|-| +269203 269203|-|Unknown|-|-| +269206 269206|-|Unknown|-|-| +269209 269209|-|Unknown|-|-| +269212 269212|-|Unknown|-|-| +269215 269215|-|Unknown|-|-| +269218 269218|-|Unknown|-|-| +269221 269221|-|Unknown|-|-| +269224 269224|Diffuse cerebellar malformation|Unknown|-|-| +269229 269229|PTCD|<1 / 1 000 000|Not applicable|Infancy
Neonatal|614688 +2695 2695|-|Unknown|Autosomal dominant
or Autosomal recessive|Antenatal
Neonatal|109740 210400 +269505 269505|Congenital non-obstructive hydrocephalus|Unknown|-|-| +269510 269510|Congenital obstructive hydrocephalus|Unknown|-|-| +269523 269523|-|-|-|-| +269528 269528|-|-|-|-| +269531 269531|-|-|-|-| +269546 269546|-|-|-|-| +269550 269550|-|-|-|-| +269553 269553|Genetic brain malformation|-|-|-| +269557 269557|-|-|-|-| +269560 269560|-|-|-|-| +269564 269564|-|-|-|-| +269567 269567|-|-|-|-| +269570 269570|-|-|-|-| +269573 269573|-|-|-|-| +2697 2697|ARC syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|208085 613404 +2698 2698|Bart-Pumphrey syndrome
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome|<1 / 1 000 000|-|Childhood|149200 +2699 2699|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|151630 +27 27|Vitamin B12-unresponsive methylmalonic aciduria|Unknown|Autosomal recessive|Neonatal
Infancy
Childhood|251000 +270 270|OPMD|1-9 / 1 000 000|Autosomal dominant
or Autosomal recessive|Adult
Elderly|164300 +2700 2700|Cancrum oris|Unknown|-|Childhood| +2701 2701|NS/LAH
Tosti syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|607721 +2703 2703|Nova syndrome|-|-|-| +2704 2704|Hydronephrosis-inverted smile syndrome
Inverted smile-neurogenic bladder syndrome
Partial facial palsy with urinary abnormalities
Urofacial syndrome|Unknown|Autosomal recessive|Childhood|236730 615112 +2705 2705|Behrens-Baumann-Vogel syndrome
Microphthalmia-optic nerve aplasia syndrome|-|-|-| +2707 2707|-|<1 / 1 000 000|Autosomal recessive|Childhood|244450 +2709 2709|Gingival hypertrophy-corneal dystrophy
Rutherfurd syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|180900 +2710 2710|Meyer-Schwickerath syndrome
ODDD syndrome
Oculodentoosseous dysplasia|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|164200 257850 +2712 2712|Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
OFCD syndrome|Unknown|X-linked dominant|Infancy
Neonatal|300166 +2713 2713|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|211370 +2714 2714|Oculo-palato-cerebral dwarfism|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|257910 +2715 2715|Hunter-Jurenka-Thompson syndrome|<1 / 1 000 000|-|Infancy|257970 +2716 2716|-|-|-|-| +2717 2717|MOTA syndrome
Manitoba oculotrichoanal syndrome
Marles syndrome
Marles-Greenberg-Persaud syndrome|-|Autosomal recessive|-|248450 +2718 2718|Cecato de Lima-Pinheiro syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|257960 +271832 271832|Genetic mesenchymal tumor|-|-|-| +271835 271835|-|-|-|-| +271841 271841|-|-|-|-| +271844 271844|-|-|-|-| +271847 271847|-|-|-|-| +271853 271853|-|-|-|-| +271861 271861|Familial TTR-related amyloidosis
Familial transthyretin-related amyloidosis|-|-|-| +271870 271870|-|-|-|-| +2719 2719|Cross syndrome|-|-|-|257800 +272 272|FCMD
Fukuyama congenital muscular dystrophy|1-9 / 1 000 000|-|-|253800 +2720 2720|-|-|-|-|257790 +2721 2721|OODD|<1 / 1 000 000|Autosomal recessive|Childhood|257980 +2722 2722|-|-|-|-| +2723 2723|Freire-Maia syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|273400 +2724 2724|Boder syndrome|<1 / 1 000 000|-|No data available|164330 +2725 2725|Al Gazali-Al Talabani syndrome
Al Gazali-Lytle syndrome|-|-|-|609465 +2728 2728|BMRS, Ohdo type
Blepharophimosis syndrome, Ohdo type
Ohdo syndrome
Ohdo-Madokoro-Sonoda syndrome|<1 / 1 000 000|Not applicable|Infancy
Neonatal|249620 +2729 2729|-|<1 / 1 000 000|Unknown|Infancy
Neonatal|604916 +273 273|DM1
MD1
Myotonic dystrophy type 1
Steinert disease|1-5 / 10 000|Autosomal dominant|Neonatal
Adult|160900 +2730 2730|-|-|-|-|176240 +2731 2731|-|<1 / 1 000 000|Autosomal recessive|Childhood|272980 +2732 2732|-|Unknown|Autosomal recessive|Infancy
Neonatal| +2733 2733|-|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|164745 258315 +2736 2736|Czeizel syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|258320 +2737 2737|-|<1 / 1 000 000|Not applicable|All ages| +274 274|Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|All ages|153670 231200 +2741 2741|OMM syndrome
Pillay syndrome|<1 / 1 000 000|-|No data available|164900 +2742 2742|-|-|-|-| +2743 2743|Levic-Stefanovic-Nikolic syndrome|-|-|-|165150 +2744 2744|HGPPS
Progressive external ophthalmoplegia and scoliosis|Unknown|-|Childhood
Adolescent|607313 +2745 2745|Hypertelorism-oesophageal abnormality-hypospadias syndrome
Hypospadias-dysphagia syndrome
Hypospadias-hypertelorism syndrome
Opitz syndrome
Opitz-Frias syndrome|1-9 / 100 000|Autosomal dominant
or X-linked recessive|Infancy
Neonatal|145410 300000 +2746 2746|-|<1 / 1 000 000|Autosomal recessive|Neonatal|258480 +2749 2749|Oroacral syndrome|1-9 / 1 000 000|-|Infancy
Neonatal| +275 275|SCID due to ARTEMIS deficiency
SCID due to DCLRE1C deficiency
SCID, Athabascan type
SCID, Athabaskan type
Severe combined immunodeficiency due to ARTEMIS deficiency
Severe combined immunodeficiency, Athabascan type
Severe combined immunodeficiency, Athabaskan type|Unknown|Autosomal recessive|Infancy
Neonatal|602450 +2750 2750|OFD1
OFDI
OFDSI
Oral-facial-digital syndrome type 1
Papillon-Léage-Psaume syndrome|Unknown|X-linked dominant
or Not applicable|Infancy
Neonatal|311200 +2751 2751|Mohr syndrome
OFD2
Oral-facial-digital syndrome type 2|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|252100 +2752 2752|OFD3
Oral-facial-digital syndrome type 3
Sugarman syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|258850 +2753 2753|Baraitser-Burn syndrome
Mohr-Majewski syndrome
OFD4
Oral-facial-digital syndrome type 4|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|258860 +2754 2754|Joubert syndrome with oral-facial-digital syndrome
OFD6
Oral-facial-digital syndrome type 6
Orofaciodigital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome|<1 / 1 000 000|Autosomal recessive
or X-linked recessive|Infancy
Neonatal|277170 300804 614815 615665 +2755 2755|OFD8
Oral-facial-digital syndrome type 8
Oral-facial-digital syndrome, Edwards type
Orofaciodigital syndrome, Edwards type|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300484 +275517 275517|ALPS with recurrent viral infections
CEDS
Caspase 8 deficiency syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|607271 +275523 275523|DALD|<1 / 1 000 000|Unknown|All ages|605233 +275534 275534|-|Unknown|Autosomal recessive|Infancy
Neonatal|614160 +275543 275543|CRASH syndrome
Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome
L1CAM syndrome|Unknown|X-linked recessive|Infancy
Neonatal|303350 304100 307000 +275555 275555|-|1-5 / 10 000|-|Adult|189800 609402 609403 609404 614595 +2756 2756|Figuera syndrome
OFD10
Oral-facial-digital syndrome type 10
Orofaciodigital syndrome with fibular aplasia|<1 / 1 000 000|Unknown|Infancy
Neonatal|165590 +275729 275729|Rare bleeding disorder due to a constitutional thrombocytopenia
Rare coagulopathy due to a constitutional thrombocytopenia|-|-|-| +275736 275736|Rare bleeding disorder due to a platelet receptor defect
Rare coagulopathy due to a platelet receptor defect|-|-|-| +275742 275742|-|-|-|-| +275745 275745|-|-|-|-| +275749 275749|-|-|-|-| +275752 275752|-|-|-|-| +275761 275761|LAL deficiency|1-9 / 100 000|Autosomal recessive|Childhood|278000 +275766 275766|IPAH
Primary pulmonary arterial hypertension|1-9 / 1 000 000|Not applicable|All ages| +275777 275777|FPAH
Familial pulmonary arterial hypertension
HPAH
Hereditary pulmonary arterial hypertension|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|All ages| +275786 275786|Drug- or toxin-induced PAH|-|Multigenic/multifactorial|Childhood
Adolescent
Adult
Elderly| +275791 275791|PAH associated with another disease
Secondary PAH|Unknown|Not applicable|All ages| +275798 275798|PAH associated with connective tissue disease|1-9 / 1 000 000|Not applicable|All ages| +275803 275803|PAH associated with congenital heart disease|1-9 / 1 000 000|Not applicable|All ages| +275808 275808|PAH associated with HIV infaction|Unknown|Not applicable|Adult| +275813 275813|PAH associated with portal hypertension
POPH
Portopulmonary hypertension|Unknown|No data available|Adult| +275823 275823|PAH associated with schistosomiasis|Unknown|Not applicable|All ages| +275828 275828|PAH associated with chronic hemolytic anemia|Unknown|Not applicable
or Multigenic/multifactorial|All ages| +275837 275837|PH due to lung disease and/or hypoxia
PH owing to lung disease and/or hypoxia
Pulmonary hypertension due to lung disease and/or hypoxia|-|-|-| +275844 275844|PH with unclear multifactorial mechanism|-|-|-| +275853 275853|-|-|-|-| +275864 275864|bv-FTD|-|Autosomal dominant|Adult|600795 616437 +275872 275872|FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis|Unknown|Autosomal dominant|Adult|105550 608030 612069 613954 615911 616437 616439 +2759 2759|Seghers syndrome|-|-|-| +275938 275938|-|-|-|-| +275944 275944|Maternal anti-Kell alloimmunization|Unknown|-|Infancy
Neonatal| +276 276|SCIDX1
T-B+ SCID due to gamma chain deficiency
T-B+ severe combined immunodeficiency, X-linked|1-9 / 100 000|X-linked recessive|Neonatal|300400 +2760 2760|Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal|165660 +276058 276058|-|-|-|-| +276061 276061|-|-|-|-| +276066 276066|-|Unknown|Unknown|Infancy
Neonatal| +276142 276142|-|-|-|-| +276145 276145|-|-|-|-| +276148 276148|-|-|Not applicable|-|181030 +276152 276152|MEN4|Unknown|Autosomal dominant
or Not applicable|-|610755 +276161 276161|MEN|Unknown|Autosomal dominant
or Not applicable|All ages| +276174 276174|-|Unknown|Not applicable|Adult| +276183 276183|Cerebellar ataxia with azoospermia and intellectual disability
SCA32|<1 / 1 000 000|Autosomal dominant|Adult|613909 +276193 276193|SCA35|<1 / 1 000 000|Autosomal dominant|Adult|613908 +276198 276198|Asidan
SCA36|<1 / 1 000 000|Autosomal dominant|Adult|614153 +2762 2762|Familial ectopic ossification
POH|-|Autosomal dominant|Infancy
Childhood
Adolescent
Adult|166350 +276212 276212|Arylsulfatase B deficiency, rapidly progressing
MPS6, rapidly progressing
MPSVI, rapidly progressing
Mucopolysaccharidosis type VI, rapidly progressing|-|-|-| +276223 276223|Arylsulfatase B deficiency, slowly progressing
MPS6, slowly progressing
MPSVI, slowly progressing
Mucopolysaccharidosis type VI, slowly progressing|-|-|-| +276234 276234|Non-syndromic male infertility due asthenozoospermia|Unknown|Autosomal recessive|Adult|606766 612997 614822 +276238 276238|SCA3, Joseph type
Spinocerebellar ataxia type 3, Joseph type|Unknown|Autosomal dominant|Adult| +276241 276241|SCA3, Thomas type
Spinocerebellar ataxia, Thomas type|Unknown|Autosomal dominant|Adult| +276244 276244|SCA3, Machado type
Spinocerebellar ataxia type 3, Machado type|Unknown|Autosomal dominant|Adult| +276280 276280|HHML|<1 / 1 000 000|Not applicable|Childhood| +2763 2763|Gracile bone dysplasia
Osteocraniosplenic syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal
Antenatal|602361 +276399 276399|FMNG
Familial MNG|Unknown|Autosomal dominant|Adolescent|138800 +2764 2764|König disease|1-5 / 10 000|-|All ages| +276402 276402|-|-|-|-| +276405 276405|Green jaundice|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Adult|614156 +276413 276413|Del(10)(q22.3q23.3)
Deletion 10q22.3q23.3
Monosomy 10q22.3q23.3|Unknown|Not applicable
or Unknown|Infancy
Neonatal|612242 +276422 276422|Dup(10)(q22.3q23.3)
Trisomy 10q22.3q23.3|Unknown|Unknown
or Not applicable|Infancy
Neonatal| +276429 276429|-|Unknown|Not applicable|Adult| +276432 276432|Ogden syndrome|<1 / 1 000 000|X-linked recessive
or X-linked dominant|Infancy
Neonatal|300855 +276435 276435|-|<1 / 1 000 000|Autosomal dominant|Adult|615048 +276525 276525|FHI
Familial hyperinsulinemic hypoglycemia|-|-|-| +276556 276556|Hyperinsulinemic hypoglycemia due to UCP2 deficiency|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +276575 276575|Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency|Unknown|Autosomal dominant|Infancy
Neonatal|256450 +276580 276580|Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
Dominant KATP hyperinsulinism due to Kir6.2 deficiency|Unknown|Autosomal dominant|Infancy
Neonatal|601820 +276585 276585|Diazoxide-resistant hyperinsulinemic hypoglycemia|-|-|-| +276598 276598|Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|256450 +276603 276603|Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form|Unknown|Autosomal recessive|Infancy
Neonatal|601820 +276608 276608|NI-PHH|Unknown|Autosomal dominant
or Not applicable|Adult| +276621 276621|-|Unknown|Not applicable|-| +276624 276624|-|Unknown|Not applicable|-| +276627 276627|-|Unknown|Not applicable|-| +276630 276630|-|Unknown|Autosomal dominant
or Not applicable|-| +2767 2767|Maroteaux-Le Merrer-Bensahel syndrome|<1 / 1 000 000|Autosomal dominant|Adult|127820 +2768 2768|Infantile tibia vara
Osteochondrosis deformans tibiae
Tibia vara Blount|Not yet documented|Autosomal recessive|Infancy
Childhood|188700 259200 +2769 2769|-|-|-|-|259250 +277 277|ADA deficiency
SCID due to adenosine deaminase deficiency|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal|102700 +2770 2770|NHD
PLO-SL
PLOSL
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy|<1 / 1 000 000|Autosomal recessive|Adolescent
Adult|221770 +2771 2771|Osteogenesis imperfecta-congenital joint contractures syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal
Childhood|259450 609220 +2772 2772|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|259410 +2773 2773|Al Gazali-Nair syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal| +2774 2774|Idiopathic multicentric osteolysis with or without nephropathy|Unknown|Autosomal dominant|Childhood|166300 +2776 2776|Distal osteolysis-short stature-intellectual disability syndrome
Petit-Fryns syndrome|Unknown|Autosomal recessive|Childhood|259610 +2777 2777|Axial osteosclerosis|<1 / 1 000 000|Autosomal dominant|Childhood
Adolescent
Adult|166450 +2779 2779|Whyte-Murphy syndrome|-|Autosomal dominant
or X-linked dominant|-|311280 +2780 2780|Hyperostosis generalisata with striations
Robinow-Unger syndrome|<1 / 1 000 000|X-linked dominant|Infancy
Neonatal|300373 +2781 2781|-|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive|All ages| +2783 2783|-|<1 / 1 000 000|Autosomal dominant|Adolescent
Childhood|607634 +2785 2785|Carbonic anhydrase 2 deficiency
Guibaud-Vainsel syndrome
Marble brain disease
Mixed RTA
Mixed renal tubular acidosis
Renal tubular acidosis type 3|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood|259730 267200 +2786 2786|Hernández-Fragoso syndrome
OOCHS|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|601220 +2787 2787|Heide syndrome|Unknown|-|Infancy
Neonatal| +2788 2788|OPPG
Ocular form of osteogenesis imperfecta|<1 / 1 000 000|Autosomal recessive|Childhood|259770 +2789 2789|Lehman syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|130720 +2790 2790|Endosteal hyperostosis, Worth type
Worth syndrome|-|Autosomal dominant|-|144750 +2791 2791|Globodontia
Otodental dysplasia|<1 / 1 000 000|Autosomal dominant|Childhood|166750 +2792 2792|Fara-Chlupackova syndrome
OFC syndrome|-|-|-|166780 615560 +2793 2793|-|-|Autosomal recessive|-|259780 +2795 2795|Fowler-Christmas-Chapple syndrome|<1 / 1 000 000|Unknown|No data available| +2796 2796|PDP
Touraine-Solente-Gole syndrome|Unknown|Autosomal recessive|Childhood|167100 259100 614441 +2798 2798|Kuzniecky syndrome|-|-|-|600176 +279882 279882|-|Unknown|Unknown|Infancy| +279888 279888|-|Unknown|Not applicable|All ages| +279891 279891|-|Unknown|Not applicable|All ages| +279894 279894|-|Unknown|Not applicable|All ages| +279897 279897|Primary oculocerebral non-Hodgkin lymphoma|Unknown|Not applicable|Adult| +279904 279904|PIOL
Primary intraocular non-Hodgkin's lymphoma|Unknown|Not applicable|Adult| +279911 279911|-|-|-|-| +279914 279914|IU|Unknown|Not applicable|Childhood| +279919 279919|-|-|-|-| +279922 279922|-|-|-|-| +279925 279925|-|-|-|-| +279928 279928|-|-|-|-| +279934 279934|-|Unknown|Autosomal recessive|Infancy
Neonatal|251880 +279943 279943|-|<1 / 1 000 000|Autosomal dominant|All ages|162830 +279947 279947|POIS|<1 / 1 000 000|Not applicable|Adolescent
Adult| +28 28|Adenosylcobalamin deficiency
Vitamin B12-responsive methylmalonic aciduria|Unknown|Autosomal recessive|Childhood|251100 251110 277410 +280 280|4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p|1-9 / 100 000|Not applicable
or Unknown|Neonatal
Antenatal|194190 +2800 2800|-|-|-|-|167300 +280062 280062|-|1-9 / 100 000|Not applicable|Adult| +280065 280065|-|-|-|-| +280068 280068|-|-|-|-| +280071 280071|CDG syndrome type Ip
CDG-Ip
CDG1P
Carbohydrate deficient glycoprotein syndrome type Ip
Congenital disorder of glycosylation type 1p
Congenital disorder of glycosylation type Ip|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613661 +2801 2801|Familial osteoectasia
Hereditary hyperphosphatasia
Hyperostosid corticalis deformans juvenilis
JPG
Juvenile Paget's disease|<1 / 1 000 000|Autosomal recessive|Childhood|239000 +280133 280133|C3 deficiency|<1 / 1 000 000|Autosomal recessive|Childhood|613779 +280142 280142|SCID due to LCK deficiency
SCID due to lymphocyte-specific protein tyrosine kinase deficiency
Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615758 +280183 280183|Methylmalonic acidemia, TCb1R type
Methylmalonic acidemia, TCbIR type|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613646 +280195 280195|Septopreoptic HPE|Unknown|Multigenic/multifactorial|Infancy
Neonatal| +2802 2802|X-linked sideroblastic anemia with ataxia
XLSA-A|<1 / 1 000 000|X-linked recessive|Infancy
Childhood|301310 +280200 280200|Microform HPE|1-9 / 100 000|Multigenic/multifactorial|Infancy
Neonatal|147250 +280205 280205|LTEC0|Unknown|-|-| +280210 280210|Connatal PMD
Pelizaeus-Merzbacher disease type II
Severe PMD|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal| +280219 280219|Classic PMD|1-9 / 1 000 000|X-linked recessive|Infancy
Neonatal| +280224 280224|Transitional PMD|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal| +280229 280229|-|Unknown|X-linked recessive|Adult| +280234 280234|PLP1 null syndrome
Pelizaeus-Merzbacher disease, null syndrome|Unknown|X-linked recessive|Childhood| +280270 280270|PMLD|Unknown|Autosomal recessive|Infancy
Neonatal|260600 300523 608804 612233 +280282 280282|PMLD1|Unknown|Autosomal recessive|Infancy
Neonatal|608804 +280288 280288|Mitochondrial HSP60 chaperonopathy|Unknown|Autosomal recessive|Infancy
Neonatal|612233 +280293 280293|-|Unknown|Autosomal recessive|Infancy
Neonatal|260600 +280302 280302|AIP type 1
IgG4-related pancreatitis
Lymphoplasmacytic sclerosing pancreatitis|Unknown|Not applicable|Adult| +280315 280315|AIP type 2
Duct-centric pancreatitis|-|Not applicable|Adult| +280325 280325|12p13.33 microdeletion syndrome
Del(12)(p13.33)
Distal deletion 12p|<1 / 1 000 000|-|Infancy
Neonatal| +280333 280333|LGMD2P|<1 / 1 000 000|Autosomal recessive|Childhood|613818 +280342 280342|-|-|-|-| +280356 280356|FPLD4
PLIN1-related FPLD|<1 / 1 000 000|Autosomal dominant|Childhood|613877 +280365 280365|-|<1 / 1 000 000|Semi-dominant|Adult| +280369 280369|-|-|-|-| +280373 280373|-|-|-|-| +280379 280379|-|<1 / 1 000 000|Autosomal recessive|Adult| +280384 280384|IDMDC|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +280397 280397|-|<1 / 1 000 000|Autosomal dominant|Adult| +2804 2804|Pallister-W syndrome|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|311450 +280400 280400|Familial prion disease|-|-|-| +280403 280403|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +280406 280406|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614650 +2805 2805|Congenital pancreatic agenesis
Partial agenesis of the pancreas|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|167755 260370 615935 +280553 280553|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613869 +280558 280558|WABS|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|613398 +280569 280569|Crescentic glomerulonephritis
RPGN|Unknown|-|All ages| +280576 280576|NGPS|<1 / 1 000 000|Autosomal recessive|Childhood|614008 +280586 280586|gPAPP deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614078 +280598 280598|-|<1 / 1 000 000|Autosomal dominant|All ages|608895 +2806 2806|Dawson's encephalitis
SSPE
Subacute inclusion body encephalitis
Subacute sclerosing panencephalitis
Van Bogaert disease
Van Bogaert encephalitis|<1 / 1 000 000|Not applicable|All ages|260470 +280615 280615|Transient neonatal cyanosis and anemia due to Toms River Hemoglobin|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|613977 +280620 280620|EPM6
GOSR2-related progressive myoclonus ataxia
North Sea progressive myoclonus epilepsy
PME type 6
Progressive myoclonus epilepsy type 6|<1 / 1 000 000|Autosomal recessive|Childhood|614018 +280628 280628|FPHH|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|145250 +280633 280633|PIGN-CDG|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614080 +280640 280640|Occipital MCD
Occipital malformations of cortical development|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614115 +280651 280651|-|<1 / 1 000 000|Autosomal dominant|Childhood|101800 614613 +280654 280654|-|<1 / 1 000 000|Autosomal recessive|-|614157 +280663 280663|HPS9|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614171 +280671 280671|Congenital megaconial myopathy
Congenital muscular dystrophy with mitochondrial structural abnormalities
Megaconial congenital muscular dystrophy|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|602541 +280679 280679|Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|<1 / 1 000 000|X-linked recessive|All ages|300845 +2807 2807|CPP
Choroid plexus papilloma|-|-|All ages|260500 +280763 280763|AP4 deficiency syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|612936 613744 614066 614067 +280774 280774|GET|Unknown|Not applicable|Adolescent
Adult| +280779 280779|CCV|<1 / 1 000 000|Not applicable|Adult| +280785 280785|Bullous DCM|<1 / 1 000 000|Not applicable|Infancy
Neonatal| +280794 280794|Infiltrative small vesicular DCM
Infiltrative small vesicular diffuse cutaneous mastocytosis
Pseudoxanthomatous DCM|<1 / 1 000 000|Not applicable|Infancy
Neonatal| +2808 2808|Familial vocal cord dysfunction
Gerhardt syndrome|-|-|-|150260 +280802 280802|Congenital intrapulmonary sequestration
Intralobar congenital bronchopulmonary sequestration|-|-|-| +280811 280811|Congenital extrapulmonary sequestration
Extralobar congenital bronchopulmonary sequestration|-|-|-| +280821 280821|-|-|-|-| +280827 280827|CPAM type 0
Congenital cystic adenomatoid malformation of the lung type 0
Congenital cystic adenomatous malformation of the lung type 0|-|-|Antenatal
Neonatal| +280832 280832|CCAM type 1
CPAM type 1
Congenital cystic adenomatoid malformation of the lung type 1
Congenital cystic adenomatous malformation of the lung type 1
Congenital cystic disease of the lung type 1|-|-|Antenatal
Neonatal| +280840 280840|CCAM type 2
CPAM type 2
Congenital cystic adenomatoid malformation of the lung type 2
Congenital cystic adenomatous malformation of the lung type 2
Congenital cystic disease of the lung type 2|-|-|Antenatal
Neonatal| +280847 280847|CCAM type 3
CPAM type 3
Congenital cystic adenomatoid malformation of the lung type 3
Congenital cystic adenomatous malformation of the lung type 3
Congenital cystic disease of the lung type 3|-|-|Antenatal
Neonatal| +280854 280854|CPAM type 4
Congenital cystic adenomatoid malformation of the lung type 4
Congenital cystic adenomatous malformation of the lung type 4|-|-|Antenatal
Neonatal| +280886 280886|Iridocyclitis|Unknown|Not applicable|All ages| +280892 280892|Choroiditis|Unknown|Not applicable|All ages| +280898 280898|Total uveitis|Unknown|Not applicable|All ages| +2809 2809|-|-|-|-|134200 +280914 280914|-|-|-|-| +280917 280917|-|-|-|-| +280921 280921|-|-|-|-| +280926 280926|-|-|-|-| +280930 280930|-|-|-|-| +280933 280933|-|-|-|-| +281 281|Cri du chat syndrome
Deletion 5p|1-9 / 100 000|Not applicable
or Unknown|Neonatal|123450 +281082 281082|-|-|-|-| +281085 281085|-|-|-|-| +281090 281090|Syndromic RXLI
Syndromic recessive X-linked ichthyosis|1-9 / 100 000|X-linked recessive|Childhood|308100 +281097 281097|ARCI|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +281103 281103|KPI|-|-|-| +281122 281122|SHCB|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|242100 242300 606545 +281127 281127|Acral SHCB|<1 / 1 000 000|-|Infancy
Neonatal| +281139 281139|AEI|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|607602 +281190 281190|CRIE
IWC
Ichthyosis variegata
Ichthyosis with confetti|<1 / 1 000 000|Autosomal dominant|Neonatal|609165 +2812 2812|Hard-skin syndrome, Parana type|-|-|-|260530 +281201 281201|KLICK syndrome|Unknown|Autosomal recessive|Infancy
Neonatal|601952 +281210 281210|-|-|-|-| +281217 281217|-|-|-|-| +281222 281222|-|-|-|-| +281238 281238|-|-|-|-| +281241 281241|-|-|-|-| +281244 281244|-|-|-|-| +2815 2815|Wells-Jankovic syndrome|-|-|Childhood|312910 +2816 2816|SPEMR|<1 / 1 000 000|-|Childhood|182610 +2818 2818|-|<1 / 1 000 000|Autosomal recessive|Adult|270850 +2819 2819|Bahemuka-Brown syndrome|<1 / 1 000 000|-|Infancy| +282 282|FTD|1-9 / 100 000|Autosomal dominant|Adult|172700 600274 600795 607485 +2820 2820|Fitzsimmons-Walson-Mellor syndrome|<1 / 1 000 000|Autosomal dominant|No data available|182690 +2821 2821|Antinolo-Nieto-Borrego syndrome|<1 / 1 000 000|-|Childhood|182815 +282124 282124|Partial monosomy of chromosome 12|-|-|-| +282166 282166|Inherited CJD|<1 / 1 000 000|Autosomal dominant|Adult
Elderly|123400 +282196 282196|APS
Autoimmune polyglandular syndrome|-|-|-| +2822 2822|Nakamura-Osame syndrome
SPG11
Spastic paraplegia-intellectual disability-thin corpus callosum syndrome|-|Autosomal recessive|-|604360 +2823 2823|Fitzsimmons-Guilbert syndrome|<1 / 1 000 000|Unknown|Childhood
Infancy|270710 +2824 2824|Fitzsimmons-McLachlan-Gilbert syndrome|<1 / 1 000 000|X-linked recessive|No data available|309560 +2825 2825|Poikiloderma-alopecia-retrognathism-cleft palate syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|600331 +2826 2826|-|<1 / 1 000 000|Autosomal dominant|Childhood|182820 +2828 2828|Early-onset Parkinson disease
YOPD|1-5 / 10 000|Autosomal dominant
or Autosomal recessive|Adult|300557 600116 602404 605909 606324 606852 610297 613643 615528 616840 +283 283|Demodicosis|-|-|-| +2831 2831|-|-|-|-|601438 +2832 2832|Lopes-Gorlin syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal
Infancy|600269 +2833 2833|-|-|-|-|184900 228020 +2834 2834|WSS
Wrinkled skin syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|278250 +2835 2835|Zori-Stalker-Williams syndrome|<1 / 1 000 000|Unknown|Neonatal|600399 +2836 2836|Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
Progressive encephalopathy-optic atrophy syndrome|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|260565 +2837 2837|-|-|-|-|260650 +28378 28378|Keratosis palmoplantaris-corneal dystrophy syndrome
Oculocutaneous tyrosinemia
Richner-Hanhart syndrome
Tyrosinemia due to TAT deficiency
Tyrosinemia due to tyrosine aminotransferase deficiency
Tyrosinemia type II|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|276600 +2838 2838|-|-|-|-| +2839 2839|Kosenow syndrome
Scapuloiliac dysostosis|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|169550 +284 284|Echinococcus multilocularis infection|Unknown|-|Adult
Elderly| +2840 2840|Ray-Peterson-Scott syndrome|-|-|-|602484 +2841 2841|Benign chronic familial pemphigus of Hailey-Hailey
Hailey-Hailey disease|Unknown|Autosomal dominant|Adult|169600 +284102 284102|Response to PEG/IFN-ribavirin in HCV|-|-|-|609532 +284113 284113|-|-|-|-| +284121 284121|-|-|-|-| +284139 284139|Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|-|Autosomal recessive|Infancy
Neonatal|245600 +284149 284149|Kreiborg-Pakistani syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614188 +284160 284160|Del(8)(q21.11)
Deletion 8q21.11
Monosomy 8q21.11|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal|614230 +284169 284169|10p12p11 microdeletion syndrome
Del(10)(p11.21p12.31)
Deletion 10p11.21p12.31
Monosomy 10p11.21p12.31|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal|616708 +284180 284180|Dup(X)(p22)
Dup(X)(p22.13p22.2)
Duplication Xp22|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal| +2842 2842|-|Unknown|Autosomal recessive
or X-linked recessive
or Not applicable|Infancy
Neonatal| +284227 284227|Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome|<1 / 1 000 000|-|Adult| +284232 284232|CMT2O|<1 / 1 000 000|Autosomal dominant|Childhood|614228 +284247 284247|FRAM
Retinal arterial macroaneurysm and supravalvular pulmonic stenosis|<1 / 1 000 000|Autosomal recessive|Childhood|614224 +284264 284264|IgG4-related sclerosing disease
IgG4-related systemic disease
Immunoglobulin G4-related sclerosing disease|Unknown|Not applicable|Adult| +284271 284271|Autosomal recessive spinocerebellar ataxia type 11
SCAR11|<1 / 1 000 000|Autosomal recessive|Childhood|614229 +284282 284282|Autosomal recessive spinocerebellar ataxia type 12
SCAR12|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614322 +284289 284289|Autosomal recessive spinocerebellar ataxia type 10
SCAR10|<1 / 1 000 000|Autosomal recessive|Adult|613728 +2843 2843|Essential pentosuria
Xylitol dehydrogenase deficiency|Unknown|Autosomal recessive|Infancy
Neonatal|260800 +284324 284324|Autosomal recessive spinocerebellar ataxia type 7
SCAR7|<1 / 1 000 000|Autosomal recessive|Childhood|609270 +284332 284332|Autosomal recessive spinocerebellar ataxia type 6
SCAR6|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|608029 +284339 284339|PCH7
Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614969 +284343 284343|DICER1 syndrome
PPB familial tumor susceptibility syndrome
PPBFTDS
Pleuro-pulmonary blastoma familial tumor susceptibility syndrome|-|Autosomal dominant|Adolescent
Childhood
Adult|601200 +284362 284362|FLIT
Immature interstitial mesenchymal tumor|-|-|Infancy
Neonatal| +284385 284385|-|-|-|-| +284388 284388|RCVS|Unknown|Not applicable|Adult| +284395 284395|WDFA|Unknown|Not applicable|All ages| +284400 284400|Poorly differentiated neuroendocrine carcinoma of the bladder
SCCB
Small cell bladder cancer
Small cell bladder carcinoma
Small cell carcinoma of the urinary bladder|<1 / 1 000 000|Not applicable|Adult| +284408 284408|-|-|-|Infancy| +284411 284411|-|-|-|Childhood
Adolescent| +284414 284414|-|-|-|Adult| +284417 284417|PSAT deficiency|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|610992 +284426 284426|GSD due to lactate dehydrogenase M-subunit deficiency
GSD type 11
Glycogen storage disease type 11
Glycogenosis due to lactate dehydrogenase M-subunit deficiency
Glycogenosis type 11
LDH-M subunit deficiency
Lactate dehydrogenase A deficiency|Unknown|Autosomal recessive|Childhood|612933 +284435 284435|GSD due to lactate dehydrogenase H-subunit deficiency
Glycogenosis due to lactate dehydrogenase H-subunit deficiency
LDH-H subunit deficiency
Lactate dehydrogenase B deficiency|Unknown|Autosomal dominant
or Autosomal recessive|Adult|614128 +284448 284448|Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids|<1 / 1 000 000|Not applicable|Adult| +284454 284454|AZOOR|Unknown|Not applicable|Adolescent
Adult| +284460 284460|AAOR|<1 / 1 000 000|Not applicable|Adult| +2846 2846|-|Unknown|Not applicable|All ages| +2847 2847|-|<1 / 1 000 000|Autosomal recessive
or Not applicable|Infancy
Neonatal| +284786 284786|-|-|-|-| +284790 284790|-|-|-|-| +2848 2848|Arthropathy-camptodactyly syndrome
CACP syndrome
Jacobs syndrome
Pericarditis-arthropathy-camptodactyly syndrome|<1 / 1 000 000|-|-|208250 +284804 284804|-|-|-|-| +284811 284811|-|-|-|-| +284814 284814|-|-|-|-| +284818 284818|-|-|-|-| +2849 2849|Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|267000 +284963 284963|MFS1|-|Autosomal dominant|All ages|154700 +284973 284973|MFS2|-|Autosomal dominant|All ages|610168 +284979 284979|Neonatal MFS|Unknown|Autosomal dominant|Infancy
Neonatal| +284984 284984|-|<1 / 1 000 000|Autosomal dominant|All ages|613795 +284993 284993|-|-|-|-| +285 285|BJHS
Benign joint hypermobility syndrome
EDS III
Ehlers-Danlos syndrome type 3
Ehlers-Danlos syndrome, hypermobile type
HT-EDS|1-5 / 10 000|Autosomal dominant
or Autosomal recessive|All ages|130020 +2850 2850|Perniola-Krajewska-Carnevale syndrome|-|-|-|203650 610422 613930 +285014 285014|-|-|-|-| +2854 2854|Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome
Fuhrmann-Rieger-de Sousa syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|228930 +2855 2855|XX gonodal dysgenesis-deafness syndrome|<1 / 1 000 000|Autosomal recessive|Adolescent
Childhood
Adult|233400 614129 614926 615300 616138 +2856 2856|PMDS
Persistent Müllerian derivatives|Unknown|Autosomal recessive|Infancy
Childhood
Adolescent
Adult|261550 +285657 285657|-|-|-|-| +286 286|EDS IV
EDS type 4
Ehlers-Danlos syndrome type 4
Ehlers-Danlos syndrome type IV
Sack-Barabas syndrome|1-9 / 100 000|Autosomal dominant|Infancy
Neonatal|130050 +2863 2863|Stratton-Parker syndrome|-|-|-|185120 +2865 2865|Al Gazali-Aziz-Salem syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal| +2866 2866|Thong-Douglas-Ferrante syndrome|-|-|-| +2867 2867|Mievis-Verellen-Dumoulin syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal|601350 +2868 2868|-|-|Autosomal dominant|Infancy
Neonatal|126190 +2869 2869|Hamartomatous intestinal polyposis
PJS
Polyps and spots syndrome|1-9 / 1 000 000|Autosomal dominant|Adolescent
Adult
Childhood|175200 +287 287|EDS, classic type|1-9 / 100 000|Autosomal dominant|Infancy
Neonatal
Childhood|130000 +2871 2871|-|-|-|-|261560 +2872 2872|Craniosynostosis-congenital heart disease-intellectual disability syndrome
Pfeiffer-Singer-Zschiesche syndrome
Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive
or Not applicable|Infancy
Neonatal|218450 +2874 2874|-|<1 / 1 000 000|Unknown|Infancy
Neonatal| +2875 2875|-|-|Not applicable|-| +2876 2876|Powell-Chandra-Saal syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|261575 +2878 2878|Stoll-Lévy-Francfort syndrome|-|-|-|171480 +2879 2879|Al Awadi-Raas-Rothschild syndrome
Aplasia/hypoplasia of limbs and pelvis
Congenital absence of ulna and fibula
Severe limb deficit|Unknown|Autosomal recessive|Infancy
Neonatal|276820 +288 288|HE|1-5 / 10 000|Autosomal dominant
or Autosomal recessive|All ages|130600 235370 611804 +2880 2880|PEPCK deficiency|<1 / 1 000 000|Autosomal recessive
or Mitochondrial inheritance|Infancy
Neonatal|261650 261680 +2881 2881|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|219095 +2882 2882|Phytosterolemia|<1 / 1 000 000|Autosomal recessive|All ages|210250 +2884 2884|-|Unknown|Autosomal dominant|Infancy
Neonatal|172800 +2885 2885|Telfer-Sugar-Jaeger syndrome|-|-|-|172850 +2886 2886|Pierre Robin sequence-congenital heart defect-talipes syndrome
Pierre Robin syndrome-congenital heart defect-talipes syndrome
Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome|-|-|-|311900 +2888 2888|Chitayat-Meunier-Hodgkinson syndrome
Pierre Robin sequence-faciodigital anomaly syndrome|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|311895 +2889 2889|Twisted hair|Unknown|Autosomal recessive|Infancy
Neonatal|261900 +289 289|Chondroectodermal dysplasia
Mesodermic dysplasia|Unknown|Autosomal recessive|Neonatal
Antenatal|225500 +2890 2890|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +289098 289098|-|-|-|-| +2891 2891|-|-|-|-|261990 +289103 289103|-|-|-|-| +289157 289157|1-alpha-hydroxylase deficiency
PDDRI
Pseudovitamin D-deficient rickets
VDDI
VDDR-I
Vitamin D dependent rickets type I
Vitamin D-dependency type I|1-5 / 10 000|Autosomal recessive|Infancy
Neonatal|264700 600081 +289176 289176|ARHR|Unknown|Autosomal recessive|All ages|241520 613312 +2892 2892|Euhidrotic ectodermal dysplasia
Kopysc-Barczyk-Krol syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|262020 +289266 289266|-|Unknown|Autosomal dominant|Childhood|613971 +289290 289290|ADK hypermethioninemia
Hypermethioninemia encephalopathy due to ADK deficiency|Unknown|Autosomal recessive|Childhood|614300 +289307 289307|Developmental delay due to ALDH6A1 deficiency
Developmental delay due to MMSDH deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614105 +289326 289326|HAM/TSP
HTLV-1-associated myelopathy/tropical spastic paraparesis
Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis
Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis
TSP|Unknown|Not applicable|Adult|159580 +289347 289347|IDH
Infective dermatitis associated with human T-lymphotropic virus type 1
Infective dermatitis associated with human T-lymphotropic virus type I|Unknown|Not applicable|Childhood| +289356 289356|NGCO
Primary non-gestational ovarian choriocarcinoma|Unknown|Unknown|Adolescent| +289362 289362|Non-CNS-localized embryonal carcinoma|-|-|-| +289365 289365|Familial VUR|Unknown|Autosomal dominant|All ages|193000 610878 613674 614317 614318 614319 615390 615963 +289377 289377|-|Unknown|Autosomal recessive|Childhood|611705 +289380 289380|Congenital myosclerosis, Löwenthal type|Unknown|Autosomal recessive|Childhood|255600 +289385 289385|Cancer diagnosed during pregnancy|-|-|-| +2894 2894|-|-|-|-| +289465 289465|Congenital absence of fingerprints
Immigration delay disease|Unknown|Autosomal dominant|Infancy
Neonatal|136000 +289478 289478|PASH syndrome|Unknown|No data available|Adult| +289483 289483|-|Unknown|X-linked recessive|Infancy
Neonatal|300858 +289494 289494|Pol III-related leukodystrophy|-|-|-| +289499 289499|CCMCO|Unknown|Autosomal recessive|Infancy
Neonatal|269400 +289504 289504|CMAMMA
Combined malonic and methylmalonic aciduria|Unknown|Autosomal dominant
or Autosomal recessive|All ages|614265 +289513 289513|Del(12)(q15)(q21.1)
Deletion 12q15q21.1
Monosomy 12q15q21.1|-|-|Infancy
Neonatal| +289522 289522|Tetrasomy 11q24.1|-|-|Childhood| +289527 289527|Fatal infantile HCM due to mitochondrial complex I deficiency
Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency
Fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency|Unknown|Autosomal dominant|Infancy
Neonatal| +289539 289539|Tumor susceptibility linked to germline BAP1 mutations|Unknown|Autosomal dominant|Adult|614327 +289548 289548|-|Unknown|Autosomal recessive|Infancy
Neonatal| +289553 289553|-|Unknown|Autosomal dominant|Infancy
Neonatal|615102 +289560 289560|MPAN
NBIA due to C19orf12 mutation
NBIA4
Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Neurodegeneration with brain iron accumulation type 4|1-9 / 1 000 000|Autosomal recessive|Childhood
Adolescent
Adult|614298 +289573 289573|-|-|-|-| +289586 289586|Autosomal recessive exfoliative ichthyosis
Ichthyosis exfoliativa|Unknown|Autosomal recessive|Infancy
Neonatal|607936 617115 +289596 289596|JNA|-|Not applicable|Childhood
Adolescent| +2896 2896|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|610954 +289601 289601|CALJA
Calcification of joints and arteries|<1 / 1 000 000|Autosomal recessive|Adult|211800 +289635 289635|-|-|-|-| +289638 289638|EBV-related tumor|-|-|-| +289644 289644|EBV-associated lymphoproliferative disorder|-|-|-| +289651 289651|EBV-associated carcinoma|-|-|-| +289656 289656|EBV-associated mesenchymal tumor|-|-|-| +289661 289661|EBV-positive DLBCL of the elderly|-|Not applicable|-| +289666 289666|PBL|-|-|-| +289682 289682|-|-|-|-| +289685 289685|-|-|-|-| +2897 2897|-|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal|173200 +2898 2898|Hyde Forster-McCarthy-Berry syndrome|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300064 +289829 289829|-|-|-|-| +289832 289832|-|-|-|-| +289841 289841|-|-|-|-| +289846 289846|-|-|-|-|266130 +289849 289849|-|-|-|-|231900 +289857 289857|Classic glycine encephalopathy
Neonatal NKH
Neonatal non-ketotic hyperglycinemia|Unknown|Autosomal recessive|Infancy
Neonatal| +289860 289860|Infantile NKH
Infantile non-ketotic hyperglycinemia|Unknown|Autosomal recessive|Infancy
Neonatal| +289863 289863|Atypical NKA
Atypical non-ketotic hyperglycinemia|<1 / 1 000 000|Unknown|All ages| +289866 289866|-|-|-|-| +289869 289869|-|-|-|-| +289877 289877|-|-|-|-| +289891 289891|Glycine N-methyltransferase deficiency
Hypermethioninemia due to GNMT deficiency|-|-|-|606664 +289899 289899|-|-|-|-| +2899 2899|Platyspondyly-amelogenesis imperfecta syndrome
Verloes-Bourguignon syndrome|-|Autosomal recessive|Childhood|601216 +289916 289916|Complete deficiency of methylmalonyl-CoA mutase
Vitamin B12-unresponsive methylmalonic aciduria type mut0|Unknown|Autosomal recessive|Infancy
Neonatal|251000 +29 29|Complete mevalonate kinase deficiency
MVA|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal
Childhood|610377 +290 290|CRS
Fetal rubella syndrome|Unknown|Not applicable|Antenatal
Neonatal| +2900 2900|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|151200 +2901 2901|Acute brachial plexus neuritis
Brachial plexus neuritis
Immune brachial plexus neuropathy
Mononeuritis multiplex with brachial predilection
Neuralgic shoulder amyotrophy
Winged scapula|1-5 / 10 000|Autosomal dominant
or Not applicable|Adult|162100 +2902 2902|Chronic eosinophilic pneumonia|Unknown|Not applicable|All ages| +2903 2903|-|-|Autosomal dominant|-|173600 +2905 2905|Crow-Fukase syndrome
Osteosclerotic myeloma
PEP syndrome
Polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome
Takatsuki syndrome|Unknown|Unknown|Adult
Elderly| +2907 2907|Congenital poikiloderma with bullae, Weary type|-|-|-| +29072 29072|Familial pheochromocytoma-paraganglioma|1-9 / 1 000 000|Autosomal dominant|Childhood|115310 168000 171300 601650 605373 614165 +29073 29073|Kahler's disease
Medullary plasmacytoma
Myelomatosis
Plasma cell myeloma|1-5 / 10 000|-|Adult|254500 +2908 2908|KS
Poikiloderma of Kindler|Unknown|Autosomal recessive|Infancy
Neonatal| +290836 290836|-|-|-|-| +290839 290839|-|-|-|-| +290842 290842|-|-|-|-| +290849 290849|-|-|-|-| +2909 2909|Poikiloderma of Rothmund-Thomson
RTS|Unknown|Autosomal recessive|Infancy
Neonatal|268400 +291 291|Antenatal varicella virus infection|Unknown|Not applicable|Antenatal
Neonatal| +2911 2911|Poland anomaly
Poland sequence|1-9 / 100 000|Autosomal dominant
or Not applicable|Infancy
Neonatal|173800 +2912 2912|-|<1 / 1 000 000|Not applicable|Childhood| +2913 2913|-|-|-|-|603596 +2916 2916|-|-|-|-|263540 +2917 2917|Czeizel-Brooser syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|174310 +2919 2919|OFD5
Oral-facial-digital syndrome type 5
Orofaciodigital syndrome, Thurston type
Polydactyly postaxial with median cleft of upper lip
Thurston syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|174300 +292 292|Antenatal enterovirus infection|Unknown|Not applicable|Antenatal
Neonatal| +2920 2920|Postaxial polydactyly-intellectual disability syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|258200 +29207 29207|Arthritis urethritica
Fiessinger-Leroy disease
Fiessinger-Leroy-Reiter syndrome
Polyarteritis enterica
Reiter syndrome
Venereal arthritis|1-9 / 100 000|Not applicable|All ages| +2921 2921|Pfeiffer-Mayer syndrome|Unknown|Autosomal recessive|Infancy
Neonatal| +2924 2924|ADPCLD
Autosomal dominant polycystic liver disease
PCLD|1-9 / 100 000|Autosomal dominant
or Not applicable|Adult|174050 617004 +2925 2925|-|-|-|-| +2926 2926|Hamanishi-Ueba-Tsuji syndrome|-|-|-|207740 +2928 2928|Lundberg syndrome|-|-|-| +2929 2929|JIP
JPS
Juvenile gastrointestinal polyposis
Juvenile intestinal polyposis|Unknown|Autosomal dominant|Infancy
Childhood
Adolescent
Adult|174900 175050 612242 +293 293|Antenatal herpes simplex virus infection|Unknown|Not applicable|Neonatal
Antenatal| +2930 2930|Gastrointestinal polyposis-ectodermal changes syndrome
Gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|Unknown|Not applicable|Elderly
Adult|175500 +293144 293144|Hereditary clubfoot due to 5q31 microdeletion|-|-|-|119800 +293150 293150|Hereditary clubfoot due to PITX1 point mutation|-|-|-|119800 +293165 293165|Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Childhood|607655 +293168 293168|IAHSP|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|607225 +293173 293173|AGEP
Pustular drug eruption
Toxic pustuloderma|Unknown|Multigenic/multifactorial
or Not applicable|All ages| +293181 293181|MMPEI
MMPSI
MPEI
MPSI
Malignant migrating partial epilepsy of infancy
Migrating partial epilepsy of infancy
Migrating partial seizures of infancy|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|613722 614959 615338 616645 +293199 293199|-|<1 / 1 000 000|-|-| +2932 2932|CIDP
Chronic inflammatory demyelinating polyradiculoneuropathy|1-9 / 100 000|Not applicable|Adolescent
Adult
Elderly
Childhood| +293202 293202|-|<1 / 1 000 000|Not applicable|Adolescent
Childhood
Adult| +293208 293208|-|Unknown|Not applicable|Adult| +293284 293284|BH4-responsive HPA/PKU
BH4-responsive hyperphenylalaninemia/phenylketonuria
Tetrahydrobiopterin-responsive HPA/PKU|Unknown|Autosomal recessive|Infancy
Neonatal| +293355 293355|Methylmalonic aciduria without homocystinuria|1-9 / 100 000|Autosomal dominant
or Autosomal recessive
or X-linked dominant|All ages| +293375 293375|GWCD|<1 / 1 000 000|Autosomal dominant|Adolescent
Childhood
Adult| +293381 293381|Dystrophia Helsinglandica
Dystrophia Smolandiensis
ERED
Recurrent hereditary corneal erosions|Unknown|Autosomal dominant|Childhood|122400 +2934 2934|Bonneau syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|263630 +293462 293462|PDCD|<1 / 1 000 000|Unknown|Adult| +2935 2935|Crossed polydactyly|-|-|-|175690 +293603 293603|Autosomal recessive CHED
Autosomal recessive congenital hereditary endothelial dystrophy
CHED2
CHEDII
Congenital hereditary endothelial dystrophy type 2
Infantile hereditary endothelial dystrophy
Maumenee corneal dystrophy|Unknown|Autosomal recessive|Infancy
Neonatal|217700 +293621 293621|XECD|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300779 +293633 293633|PYCR1 deficiency
Pyrroline-5-carboxylate reductase 1 deficiency|-|-|-|614438 +293642 293642|BMRS|<1 / 1 000 000|Autosomal recessive
or X-linked recessive
or Mitochondrial inheritance|Infancy
Neonatal| +293707 293707|BMRS, MKB type
BMRS, Maat-Kievit-Brunner type
Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
X-linked Ohdo syndrome|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300895 +293725 293725|BMRS type V
BMRS, Verloes type
Blepharophimosis-intellectual disability syndrome type V|<1 / 1 000 000|Unknown|Infancy
Neonatal|604314 +293807 293807|-|Unknown|Not applicable|All ages| +293812 293812|-|<1 / 1 000 000|Not applicable|All ages| +293815 293815|-|-|Not applicable|All ages| +293822 293822|-|<1 / 1 000 000|-|-|614456 +293825 293825|CDA IV
CDA due to KLF1 mutation
CDA type 4
CDA type IV
CDAN4
Congenital dyserythropoietic anemia due to KLF1 mutation
Congenital dyserythropoietic anemia type 4|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|613673 +293830 293830|-|-|-|Infancy
Neonatal| +293843 293843|Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|248340 257920 265050 +293848 293848|RTLA
rvFTD|Unknown|Unknown|Adult| +293864 293864|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615710 +293888 293888|Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form|-|-|-| +293899 293899|Familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form|-|-|-| +293910 293910|Familial isolated arrhythmogenic ventricular cardiomyopathy, classic form
Familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form
Familial isolated arrhythmogenic ventricular dysplasia, classic form|-|-|-| +293925 293925|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614416 +293936 293936|Autosomal dominant keratoconus with early-onset anterior polar cataracts
Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome
Familial keratoconus with cataract
KTCNCT|<1 / 1 000 000|Autosomal dominant|Neonatal
Infancy
Childhood|614303 +293939 293939|Distal dup(X)q(28)
Distal trisomy Xq28|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal| +293948 293948|Del(1)p(21.3)
Monosomy 1p21.3|<1 / 1 000 000|Unknown|No data available| +293955 293955|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614458 +293958 293958|HPPD
Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|614187 +293964 293964|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|240900 +293967 293967|Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome|<1 / 1 000 000|Autosomal recessive|-| +293978 293978|DAVID syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|615577 +293987 293987|ROHHAD
ROHHADNET
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome|<1 / 1 000 000|Multigenic/multifactorial|Childhood| +294 294|Antenatal CMV infection
Antenatal cytomegalovirus infection|1-5 / 10 000|Not applicable|Neonatal
Antenatal| +2940 2940|-|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal|175780 614483 +294016 294016|MIC-CAP syndrome
MIC-CM syndrome
Microcephaly-cutaneous capillary malformation syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614261 +294023 294023|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614328 616069 +294026 294026|Dup(2)(q31.1)
Trisomy 2q31.1|<1 / 1 000 000|Unknown|Childhood| +294049 294049|RLS
multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +294057 294057|-|-|-|-| +294060 294060|-|-|-|-| +2941 2941|Bonnemann-Meinecke syndrome|-|-|-|601322 +2942 2942|Postpolio sequelae
Postpolio syndrome
Postpoliomyelitic syndrome
Postpoliomyelitis sequelae|Unknown|Not applicable|Adolescent
Adult
Elderly| +294415 294415|Ivemark II syndrome
Renohepaticopancreatic dysplasia|-|Autosomal recessive|-|208540 615415 +294422 294422|CIF|-|Not applicable|All ages| +2946 2946|Brachydactyly, long thumb type|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|112430 +2947 2947|Carnevale-Hernández-del Castillo syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal|190680 +294925 294925|-|-|-|-| +294927 294927|Intercalary meromelia|-|-|-| +294929 294929|Terminal meromelia|-|-|-| +294931 294931|Fingers absent|-|-|Antenatal
Neonatal| +294935 294935|-|-|-|-| +294937 294937|-|-|-|-| +294939 294939|Preaxial polydactyly of hand|-|-|Infancy
Neonatal| +294942 294942|Postaxial polydactyly of hand|-|-|-| +294944 294944|-|-|-|-| +294947 294947|-|-|-|-| +294949 294949|-|-|-|-| +294951 294951|-|-|-|-| +294953 294953|-|-|-|-| +294955 294955|-|-|-|-| +294957 294957|-|-|-|-| +294959 294959|-|-|-|-| +294963 294963|-|1-9 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +294965 294965|LCCS|-|-|-| +294967 294967|-|-|-|-| +294969 294969|-|-|-|-| +294971 294971|Total amelia|-|-|-| +294973 294973|Humeral intercalary meromelia|-|-|-| +294975 294975|Humero-radio-ulnar intercalary transverse meromelia
Phocomelia|-|-|-| +294977 294977|Femorotibiofibular intercalary transverse meromelia|-|-|-| +294979 294979|Radio-ulnar terminal transverse meromelia|-|-|-| +294981 294981|Tibiofibular terminal transverse meromelia|-|-|-| +294983 294983|Congenital absence of hand|-|-|-| +294986 294986|Congenital absence of foot|-|-|-| +294988 294988|Thumb hypodactyly
Thumb oligodactyly|-|-|-| +294990 294990|Digits 2-5 hypodactyly
Digits 2-5 oligodactyly|-|-|-|102650 +294992 294992|-|-|-|-| +294994 294994|-|-|-|-| +294996 294996|Short fingers|-|-|-| +294998 294998|Short toes|-|-|-| +295 295|Parvovirus antenatal infection|Unknown|Not applicable|Antenatal
Neonatal| +2950 2950|TPT-PS syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|174500 +295000 295000|-|-|-|-|217100 +295002 295002|Supernumerary phalanges
Supernumerary phalanx|-|-|-| +295004 295004|Central polydactyly of hand
Mesoaxial polydactyly of fingers
Mirror hand|-|-|-| +295006 295006|Bifid great toes
Bifid halluces
Bifid hallux
Preaxial polydactyly of foot|-|-|-| +295008 295008|Postaxial polydactyly of foot|-|-|-| +295010 295010|Central polydactyly of foot
Mesoaxial polydactyly of toes
Mirror foot|-|-|-| +295012 295012|Mitten hand
Syndactyly, mitten type
Unilateral syndactyly of digits 2-5|-|-|-| +295014 295014|-|-|-|-| +295016 295016|-|-|-|-|114200 +295018 295018|-|-|-|-| +295020 295020|-|-|-|-| +295022 295022|-|-|-|-| +295024 295024|-|-|-|-| +295026 295026|-|-|-|-| +295028 295028|Tibio-fibular fusion|-|-|-| +295030 295030|-|-|-|-| +295032 295032|Congenital radial head dislocation|-|-|-| +295034 295034|-|-|-|-| +295036 295036|-|-|-|-| +295038 295038|-|-|-|-| +295041 295041|-|-|-|-| +295044 295044|Macrodactyly of hand|-|-|-| +295047 295047|Macrodactyly of foot|-|-|-| +295049 295049|-|-|-|-| +295051 295051|-|-|-|-| +295053 295053|-|-|-|-| +295055 295055|-|-|-|-| +295057 295057|-|-|-|-| +295059 295059|-|-|-|-| +295061 295061|Humeral intercalary meromelia, unilateral|-|-|-| +295063 295063|Humeral intercalary meromelia, bilateral|-|-|-| +295065 295065|Femoral intercalary meromelia, unilateral|-|-|-| +295067 295067|Femoral intercalary meromelia, bilateral|-|-|-| +295069 295069|Radial longitidinal meromelia, unilateral|-|-|-| +295071 295071|Radial longitidinal meromelia, bilateral|-|-|-| +295073 295073|Ulnar longitudinal meromelia, bilateral|-|-|-| +295075 295075|Ulnar longitudinal meromelia, unilateral|-|-|-| +295077 295077|Tibial longitudinal meromelia, unilateral|-|Not applicable
or Autosomal dominant
or Autosomal recessive|-| +295079 295079|Tibial longitudinal meromelia, bilateral|-|Not applicable
or Autosomal dominant
or Autosomal recessive|-| +295081 295081|Fibular longitudinal meromelia, unilateral|-|-|-| +295083 295083|Fibular longitudinal meromelia, bilateral|-|-|-| +295085 295085|Humero-radio-ulnar intercalary transverse meromelia, unilateral|-|-|-| +295087 295087|Humero-radio-ulnar intercalary transverse meromelia, bilateral|-|-|-| +295089 295089|Femorotibiofibular intercalary transverse meromelia, unilateral|-|-|-| +295091 295091|Femorotibiofibular intercalary transverse meromelia, bilateral|-|-|-| +295093 295093|Radio-ulnar terminal transverse meromelia, unilateral|-|-|-| +295095 295095|Radio-ulnar terminal transverse meromelia, bilateral|-|-|-| +295097 295097|Tibiofibular terminal transverse meromelia, unilateral|-|-|-| +295099 295099|Tibiofibular terminal transverse meromelia, bilateral|-|-|-| +2951 2951|-|<1 / 1 000 000|Unknown|Infancy
Neonatal|274190 +295101 295101|Congenital absence of hand, unilateral|-|-|-| +295103 295103|Congenital absence of hand, bilateral|-|-|-| +295105 295105|Congenital absence of foot, unilateral|-|-|-| +295107 295107|Congenital absence of foot, bilateral|-|-|-| +295110 295110|Thumb hypodactyly, unilateral
Thumb oligodactyly, unilateral|-|-|-| +295112 295112|Thumb hypodactyly, bilateral
Thumb oligodactyly, bilateral|-|-|-| +295114 295114|Adactyly of hand, bilateral
Digits 2-5 hypodactyly, bilateral
Digits 2-5 oligodactyly, bilateral|-|-|Antenatal
Neonatal| +295116 295116|Congenital absence of toes, unilateral|-|No data available|Antenatal
Neonatal| +295118 295118|Congenital absence of toes, bilateral|-|No data available|Antenatal
Neonatal| +295120 295120|-|-|-|-| +295122 295122|-|-|-|-| +295124 295124|-|-|-|-| +295126 295126|-|-|-|-| +295128 295128|Short fingers, unilateral|-|-|-| +295130 295130|Short fingers, bilateral|-|-|-| +295132 295132|Short toes, unilateral|-|-|-| +295134 295134|Short toes, bilateral|-|-|-| +295136 295136|-|-|-|-| +295138 295138|-|-|-|-| +295140 295140|Hyperphalangy in digits 2-5
Supernumerary phalanges, unilateral
Supernumerary phalanx, unilateral|-|-|-| +295142 295142|Supernumerary phalanges, bilateral
Supernumerary phalanx, bilateral|-|-|-| +295144 295144|Preaxial polydactyly type 1, unilateral|-|-|-| +295146 295146|Preaxial polydactyly type 1, bilateral|-|-|-| +295148 295148|Preaxial polydactyly type 2, unilateral
Unilateral PPD2|-|-|-| +295150 295150|Bilateral PPD2
Preaxial polydactyly type 2, bilateral|-|-|-| +295152 295152|Preaxial polydactyly type 3, unilateral|-|-|-| +295154 295154|Preaxial polydactyly type 3, bilateral|-|-|-| +295159 295159|Preaxial polydactyly type 4, unilateral|-|-|-| +295161 295161|Preaxial polydactyly type 4, bilateral|-|-|-| +295163 295163|-|-|-|-| +295165 295165|-|-|-|-| +295167 295167|-|-|-|-| +295169 295169|-|-|-|-| +295171 295171|Mesoaxial polydactyly of fingers, unilateral
Mirror hand, unilateral|-|-|-| +295173 295173|Mesoaxial polydactyly of fingers, bilateral
Mirror hand, bilateral|-|-|-| +295175 295175|Bifid great toes, unilateral
Bifid halluces, unilateral
Bifid hallux, unilateral|-|-|-| +295177 295177|Bifid great toes, bilateral
Bifid halluces, bilateral
Bifid hallux, bilateral|-|-|-| +295179 295179|-|-|-|-| +295181 295181|-|-|-|-| +295183 295183|Mesoaxial polydactyly of toes, unilateral
Mirror foot, unilateral|-|-|-| +295185 295185|Mesoaxial polydactyly of toes, bilateral
Mirror foot, bilateral|-|-|-| +295187 295187|SD1, Weidenreich type
SD1a
Syndactyly type 1, Weidenreich type
Syndactyly type 1a
Zygodactyly, Weidenreich type|-|-|-|609815 +295189 295189|SD1, Lueken type
SD1b
Syndactyly type 1, Lueken type
Syndactyly type 1b
Zygodactyly, Lueken type|-|-|-| +295191 295191|SD1, Montagu type
SD1c
Syndactyly type 1, Montagu type
Syndactyly type 1c
Zygodactyly, Montagu type|-|-|-| +295193 295193|SD1, Castilla type
SD1d
Syndactyly type 1, Castilla type
Syndactyly type 1d
Zygodactyly, Castilla type|-|-|-| +295195 295195|SD2, Vordingborg type
SD2a
SPD, Vordingborg type
SPD1
Synpolydactyly, Vordingborg type|-|Autosomal dominant|-|186000 +295197 295197|SD2, Debeer type
SD2b
SPD, Debeer type
SPD2
Synpolydactyly, Debeer type|-|-|-|608180 +295199 295199|SD2, Malik type
SD2c
SPD, Malik type
SPD3
Synpolydactyly, Malik type|-|-|-|610234 +2952 2952|-|<1 / 1 000 000|Autosomal recessive|Neonatal|201550 +295201 295201|-|-|-|-| +295203 295203|-|-|-|-| +295205 295205|Humero-radio-ulnar fusion, unilateral|-|-|-| +295207 295207|Humero-radio-ulnar fusion, bilateral|-|-|-| +295209 295209|Humero-radial fusion, unilateral|-|-|-| +295211 295211|Humero-radial fusion, bilateral|-|-|-| +295213 295213|Humero-ulnar fusion, unilateral|-|-|-| +295215 295215|Humero-ulnar fusion, bilateral|-|-|-| +295217 295217|Radio-ulnar fusion, unilateral|-|Unknown|-| +295219 295219|Radio-ulnar fusion, bilateral|-|Unknown|-| +295221 295221|-|-|-|-| +295223 295223|-|-|-|-| +295225 295225|-|-|-|-| +295227 295227|-|-|-|-| +295229 295229|-|-|-|-| +295232 295232|-|-|-|-| +295234 295234|-|-|-|-| +295237 295237|-|-|-|-| +295239 295239|Macrodactyly of hand, unilateral|-|-|-| +295241 295241|Macrodactyly of hand, bilateral|-|-|-| +295243 295243|Macrodactyly of foot, unilateral|-|-|-| +295245 295245|Macrodactyly of foot, bilateral|-|-|-| +2953 2953|ATCS
Adducted thumb-clubfoot syndrome
Adducted thumbs-arthrogryposis syndrome, Dundar type
CHST14-related EDS
CHST14-related Ehlers-Danlos syndrome
D4ST1-deficient EDS
D4ST1-deficient Ehlers-Danlos syndrome
EDS, Kosho type
EDS, arthrogryposic type
EDS, musculocontractural type
Ehlers-Danlos syndrome, Kosho type
Ehlers-Danlos syndrome, arthrogryposic type|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|601776 615539 +2956 2956|Acrodysplasia scoliosis
Brachydactyly-scoliosis-carpal fusion syndrome|-|-|-| +2957 2957|Preaxial deficiency-postaxial polydactyly-hypospadias syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|176305 +2958 2958|Prieto-Badia-Mulas syndrome|<1 / 1 000 000|X-linked recessive|Childhood|309610 +2959 2959|Mulvihill-Smith syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|176690 +296 296|Dyschondroplasia
Ollier disease|1-9 / 100 000|Not applicable|Childhood|166000 +2962 2962|Cutis laxa-corneal clouding-intellectual disability syndrome
Progeroid syndrome, De Barsy type|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|219150 614438 +2963 2963|Petty syndrome
Petty-Laxova-Wiedemann syndrome|-|-|-|612289 +2964 2964|-|-|-|-|176700 +2965 2965|Lactotroph adenoma
PRL-secreting pituitary adenoma
PRLoma
Pituitary lactotrophic adenoma
Prolactin-secreting pituitary adenoma|-|Not applicable|Childhood
Adolescent
Adult
Elderly| +2966 2966|-|-|-|-|312060 +2967 2967|-|-|-|-|193090 +2968 2968|LAD|Unknown|Autosomal recessive|Childhood|116920 266265 612840 +2969 2969|Cohen-Hayden syndrome|Unknown|Autosomal dominant|Infancy
Neonatal|158350 +297 297|-|Unknown|Not applicable|All ages| +2970 2970|Abdominal muscle deficiency syndrome
Eagle-Barret syndrome
Obrinsky syndrome
Triad syndrome|Unknown|Autosomal dominant
or X-linked recessive
or Not applicable|Neonatal|100100 +2971 2971|Pseudo-NALD
Pseudo-neonatal adrenoleukodystrophy
Pseudoadrenoleukodystrophy|<1 / 1 000 000|Autosomal recessive|Neonatal|264470 +2972 2972|Stoelinga-de Koomen-Davis syndrome|<1 / 1 000 000|No data available|Childhood|273050 +2973 2973|Female pseudohermaphroditism-anorectal anomalies syndrome|-|-|-| +2975 2975|Female pseudohermaphroditism-skeletal anomalies syndrome|<1 / 1 000 000|Unknown|No data available|264270 +2976 2976|-|-|-|-|169170 +2978 2978|CIPO|Unknown|-|All ages|243180 300048 601223 609629 +298 298|MNGIE|1-9 / 1 000 000|Autosomal recessive|Adolescent
Childhood
Adult|603041 612075 613662 +2980 2980|Pseudopapilledema-blepharophimosis-hand anomalies syndrome|<1 / 1 000 000|Autosomal recessive|-|264475 +2982 2982|46,XX DSD
Female pseudohermaphroditism|-|-|-| +29822 29822|Episodic spontaneous hypothermia
Shapiro syndrome|<1 / 1 000 000|Unknown|All ages| +2983 2983|Pseudohermaphroditism-intellectual disability syndrome
Verloes-Gillerot-Fryns syndrome|<1 / 1 000 000|Unknown|Neonatal|600122 +2985 2985|Eyebrows and eyelashes absence-intellectual disability syndrome
Hal-Berg-Rudolph syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal|200130 +298644 298644|-|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal| +2987 2987|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|178200 +2988 2988|Khalifa-Graham syndrome|<1 / 1 000 000|Autosomal dominant
or X-linked dominant|Neonatal|600159 +2989 2989|-|-|Autosomal dominant|Adolescent
Adult|178000 +2990 2990|Autosomal recessive non-lethal multiple pterygium syndrome
EVMPS
Escobar syndrome
Escobar variant multiple pterygium syndrome|Unknown|Autosomal recessive|Infancy
Neonatal|265000 +2994 2994|Haspeslagh-Fryns-Muelenaere syndrome|<1 / 1 000 000|-|Neonatal
Infancy|177980 +2995 2995|Cerebrofrontofacial syndrome type 3
Iris coloboma-ptosis-intellectual disability syndrome|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal|243310 614583 +2997 2997|Tucker syndrome|-|-|-|193240 +2999 2999|McPherson-Hall syndrome|<1 / 1 000 000|Autosomal dominant|All ages|178330 +30 30|Oroticaciduria
Orotidylic decarboxylase deficiency
Uridine monophosphate synthetase deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|258900 +300 300|-|-|-|-|261515 +3000 3000|FMPP
Familial gonadotropin-independent male-limited sexual precocity
Male-limited precocious puberty
Testotoxicosis|<1 / 1 000 000|Autosomal dominant|Childhood|176410 +300179 300179|EDS with progressive kyphoscoliosis, myopathy, and deafness
EDS with progressive kyphoscoliosis, myopathy, and hearing loss
EDS, kyphoscoliotic and hearing loss type
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614557 +3002 3002|ITP
Immune thrombocytopenia
Thrombocytopenic purpura, autoimmune|1-5 / 10 000|Not applicable|All ages|188030 +300284 300284|Bone fragility-contractures-arterial rupture-deafness syndrome
Connective tissue disorder due to LH3 deficiency|-|-|-|612394 +300293 300293|Transient infantile hypertriglyceridemia and fatty liver|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614480 +300298 300298|Severe congenital hypochromic sideroblastic anemia|<1 / 1 000 000|Unknown|Infancy
Neonatal|615234 +3003 3003|Camera syndrome|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|265880 +300305 300305|Dup(11)p(15.4)
Trisomy 11p15.4|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +300313 300313|Congenital cataract-deafness-severe developmental delay syndrome
Lethal neurodegenerative disorder due to copper transport defect|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614482 +300319 300319|CMT2P|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Adolescent
Adult|614436 +300324 300324|PPBL
Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes|Unknown|Multigenic/multifactorial|No data available|606445 +300333 300333|Nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome|<1 / 1 000 000|Autosomal recessive|-|609057 +300345 300345|Autosomal recessive SLE
Familial SLE
Familial systemic lupus erythematosus|<1 / 1 000 000|Autosomal recessive|Childhood|614420 +300359 300359|FACU
Familial atypical cold urticaria
Familial cold urticaria with common variable immunodeficiency
PLAID|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|614468 +300373 300373|Hereditary infantile gigantism
Hereditary pituitary hyperplasia
Infantile gigantism due to pituitary hyperplasia
X-LAG (X-linked acrogigantism)|<1 / 1 000 000|X-linked dominant|Infancy
Neonatal|300942 +300382 300382|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|616914 +300385 300385|-|Unknown|Unknown|All ages| +3004 3004|-|1-9 / 1 000 000|-|Infancy
Neonatal| +300493 300493|-|<1 / 1 000 000|Multigenic/multifactorial|All ages| +300496 300496|MCAHS type 2|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300868 +3005 3005|Metaphyseal dysplasia, Pyle type|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|265900 +300501 300501|-|<1 / 1 000 000|Unknown|Adolescent| +300504 300504|Acanthoma of the nail matrix|<1 / 1 000 000|-|-| +300512 300512|-|<1 / 1 000 000|Unknown|All ages| +300515 300515|-|-|-|-| +300525 300525|PHA2D|<1 / 1 000 000|Autosomal dominant|-|614495 +300530 300530|PHA2E|<1 / 1 000 000|Autosomal dominant|-|614496 +300536 300536|CDG syndrome type Ir
CDG-Ir
CDG1R
Carbohydrate deficient glycoprotein syndrome type Ir
Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type Ir|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614507 +300547 300547|Familial infantile hypercalcemia with suppressed intact parathyroid hormone|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|143880 616963 +300552 300552|Follicular pancreatocholangitis|<1 / 1 000 000|Unknown|Adult| +300557 300557|Ampullary carcinoma
Ampulloma|1-9 / 100 000|Not applicable|Adult| +300564 300564|CPFE|Unknown|Not applicable|Adult| +300570 300570|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|614039 +300573 300573|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|610031 +300576 300576|Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome|<1 / 1 000 000|Autosomal dominant|-|608615 +300579 300579|-|-|-|All ages| +3006 3006|Antiquitin deficiency
Vitamin B6-dependent seizures|Unknown|Autosomal recessive|Antenatal
Neonatal
Infancy|266100 +300605 300605|JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease|<1 / 1 000 000|Autosomal recessive|Childhood|205100 602099 614373 +300751 300751|-|Unknown|Autosomal dominant|-|115200 +300755 300755|-|Unknown|-|-| +300758 300758|-|Unknown|-|-| +300763 300763|-|Unknown|-|-| +300766 300766|-|Unknown|-|-| +3008 3008|Ataxia with lactic acidosis type 2
Ataxia with lactic acidosis type II
Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency
Leigh syndrome due to PC deficiency
Leigh syndrome due to pyruvate carboxylase deficiency|Unknown|Autosomal recessive
or Not applicable|Infancy
Neonatal|266150 +300842 300842|Indolent B-cell NHL|Unknown|-|Adult| +300846 300846|Aggressive B-cell NHL|-|-|Adult| +300849 300849|DLBCL of the CNS|-|Not applicable
or Multigenic/multifactorial|-| +300857 300857|THRLBCL|-|Multigenic/multifactorial
or Not applicable|-| +300865 300865|Primary C-ALCL
Regressive atypical histiocytosis|Unknown|-|Adult
Childhood
Adolescent| +300869 300869|SDRPL
Splenic diffuse red pulp B-cell lymphoma|-|-|-| +300878 300878|HCL-v
Leukemic reticuloendotheliosis variant
Prolymphocytic variant of HCL
Prolymphocytic variant of hairy cell leukemia|Unknown|Multigenic/multifactorial|Adult| +300888 300888|DLBCL with chronic inflammation|-|-|-| +300895 300895|ALK+ ALCL
ALK+ anaplastic large cell lymphoma|Unknown|Not applicable|Childhood
Adolescent
Adult| +300903 300903|ALK- ALCL
ALK- anaplastic large cell lymphoma|Unknown|Not applicable|Adult| +300912 300912|-|1-9 / 100 000|-|Adult| +301 301|-|1-9 / 100 000|-|All ages|137800 +3010 3010|Dysharmonic skeletal maturation-muscular fiber disproportion syndrome|<1 / 1 000 000|-|Infancy
Neonatal|600096 +3011 3011|Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|270950 +3015 3015|-|-|-|-|179280 +3016 3016|-|-|-|-|312190 +3018 3018|Rambaud-Gallian syndrome
Rambaud-Gallian-Touchard syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal|277175 +3019 3019|Cherubism-gingival fibromatosis-intellectual disability syndrome|-|Autosomal recessive|-|266270 +302 302|Lewandowsky-Lutz syndrome
Lutz-Lewandowsky epidermodysplasia verruciformis|Unknown|Autosomal recessive|All ages|226400 305350 +3020 3020|Facial nerve palsy due to VZV
Facial nerve palsy due to herpes zoster infection
Facial nerve paralysis due to VZV|Unknown|Not applicable|All ages| +3021 3021|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|266280 +3023 3023|-|-|Autosomal dominant
or Unknown
or Not applicable|-|133705 +3026 3026|Goldblatt-Viljoen syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|179270 +3027 3027|Caudal dysplasia
Sacral agenesis syndrome
Sacral regression syndrome|1-9 / 100 000|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal|600145 +303 303|DEB
Dermolytic epidermolysis bullosa
Epidermolysis bullosa dystrophica|1-9 / 1 000 000|Autosomal dominant
or Autosomal recessive
or Not applicable|Infancy
Neonatal| +3032 3032|Goldston syndrome
Meckel syndrome type 7
Meckel-like syndrome type 1
Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|267010 +3033 3033|Primitive renal tubule syndrome
Renotubular dysgenesis|-|Autosomal recessive
or Not applicable|-|267430 +3034 3034|Gonzales-del Angel syndrome|-|-|-|155980 +3035 3035|Game-Friedman-Paradice syndrome|-|-|-|236640 +3038 3038|Mehes syndrome|<1 / 1 000 000|-|-|182875 +30391 30391|Atresia of bile ducts
Non-syndromic biliary atresia|1-9 / 100 000|Multigenic/multifactorial|Infancy
Neonatal|210500 +304 304|EBS
EEB|1-9 / 100 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal
Childhood
Adolescent| +304055 304055|-|-|-|-| +3041 3041|Scholte-Begeer-van Essen syndrome|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300977 +3042 3042|Primrose syndrome|-|-|-|259050 +3044 3044|-|<1 / 1 000 000|Unknown|Childhood|249599 +3047 3047|Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome
SBBYSS
Say-Barber-Biesecker-Young-Simpson syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|603736 +305 305|EBJ
Epidermolysis bullosa atrophicans
JEB|<1 / 1 000 000|Autosomal recessive|All ages| +3050 3050|Medrano-Roldan syndrome|-|-|-| +3051 3051|Nicolaides-Baraitser syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|601358 +3052 3052|Tranebjaerg-Svejgaard syndrome|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|309480 +3055 3055|Young-Hughes syndrome|<1 / 1 000 000|X-linked recessive|Neonatal
Infancy| +3056 3056|-|<1 / 1 000 000|X-linked recessive|-|300612 +3057 3057|Brunner syndrome|Unknown|X-linked recessive|Childhood|300615 +3059 3059|MRX35|-|X-linked recessive|-| +306 306|BFIE
BFIS
Benign familial infantile convulsions
Benign familial infantile seizures|Unknown|Autosomal dominant|Infancy
Neonatal|601764 605751 607745 612627 617080 +3061 3061|-|-|X-linked recessive|-| +3062 3062|-|-|X-linked recessive|-| +3063 3063|Snyder-Robinson syndrome|<1 / 1 000 000|X-linked recessive|Adolescent
Childhood|309583 +3064 3064|-|-|X-linked recessive|-| +306431 306431|Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies|Unknown|Not applicable|Adult| +306436 306436|CSID with starch intolerance
Congenital sucrase-isomaltose malabsorption with starch intolerance
Congenital sucrose intolerance with starch intolerance
Disaccharide intolerance with starch intolerance|-|-|-| +306446 306446|CSID with minimal starch tolerance
Congenital sucrase-isomaltose malabsorption with minimal starch tolerance
Congenital sucrose intolerance with minimal starch tolerance
Disaccharide intolerance with minimal starch tolerance|-|-|-| +306462 306462|CSID without starch intolerance
Congenital sucrase-isomaltose malabsorption without starch intolerance
Congenital sucrose intolerance without starch intolerance
Disaccharide intolerance without starch intolerance|-|-|-| +306474 306474|CSID with starch and lactose intolerance
Congenital sucrase-isomaltose malabsorption with starch and lactose intolerance
Congenital sucrose intolerance with starch and lactose intolerance
Disaccharide intolerance with starch and lactose intolerance|-|-|-| +306486 306486|CSID without sucrose intolerance
Congenital sucrose-isomaltose malabsorption without sucrose intolerance
Disaccharide intolerance without sucrose intolerance|-|-|-| +306498 306498|PHTS|Unknown|Autosomal dominant|All ages| +306504 306504|Congenital ILNEB syndrome
Congenital NEP syndrome
Congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
Congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614748 +306507 306507|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614199 +306511 306511|SPG48|<1 / 1 000 000|Autosomal recessive|Adult|613647 +306516 306516|FHHNC
Michellis-Castrillo syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood| +306519 306519|-|-|-|-| +306522 306522|-|-|-|-| +306527 306527|-|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|601471 +306530 306530|Congenital hereditary facial palsy with variable deafness
Congenital hereditary facial palsy with variable hearing loss
Congenital hereditary facial paralysis with variable deafness
Congenital hereditary facial paralysis-variable deafness syndrome
Parálisis facial hereditaria congénita con pérdida de audición variable
Parálisis facial hereditaria congénita con sordera variable|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|604185 614744 +306539 306539|-|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|173650 +306542 306542|ALX1-related frontonasal dysplasia|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613456 +306547 306547|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613730 +306550 306550|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613759 +306553 306553|Spherulocytosis|Unknown|Not applicable|Adult| +306558 306558|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614231 +306577 306577|-|<1 / 1 000 000|Autosomal dominant|-|133020 615551 +306588 306588|ADOS
Autosomal dominant Opitz BBB/G syndrome
Autosomal dominant Opitz syndrome|-|-|-|145410 +306597 306597|X-linked Opitz BBB/G syndrome
X-linked Opitz syndrome
XLOS|-|-|-|300000 +306617 306617|SPG1|-|-|-| +306633 306633|Rare tumor of gallbladder and EBT|-|-|-| +306636 306636|Rare tumor of liver and IBT|-|-|-| +306640 306640|-|-|-|-| +306644 306644|-|-|-|-| +306648 306648|Non-infectious iridocyclitis|-|-|-| +306658 306658|-|-|Autosomal recessive|-|610455 +306661 306661|Hypercalcemic tumoral calcinosis|-|Autosomal recessive|-|211900 +306666 306666|-|-|-|-| +306669 306669|HP-HA syndrome|-|-|-| +306674 306674|PARK9|<1 / 1 000 000|-|Adolescent
Childhood|606693 +306679 306679|-|-|-|-| +306682 306682|Manganese intoxication
Manganism|-|-|All ages| +306686 306686|CO-induced parkinsonism|-|-|-| +306692 306692|-|-|-|-| +306695 306695|-|-|-|-| +3067 3067|-|<1 / 1 000 000|-|-| +306708 306708|-|-|-|-| +306712 306712|-|-|-|-| +306715 306715|-|-|-|-| +306719 306719|-|-|-|-| +306727 306727|-|-|-|-| +306731 306731|-|-|-|-| +306734 306734|DYT21|<1 / 1 000 000|-|Adult|614588 +306741 306741|HD-HA syndrome|<1 / 1 000 000|Not applicable|Neonatal
Infancy
Childhood
Adolescent
Adult| +306747 306747|-|-|-|-| +306750 306750|-|-|-|-| +306753 306753|-|-|-|-| +306756 306756|-|-|-|-| +306759 306759|-|-|-|-| +306762 306762|-|-|-|-| +306765 306765|-|-|-|-| +306768 306768|-|-|-|-| +306773 306773|-|-|-|-| +306776 306776|-|-|-|-| +3068 3068|Chudley-Rozdilsky syndrome|-|-|-|253320 +307 307|JME
Juvenile myoclonus epilepsy|Unknown|Autosomal dominant
or Autosomal recessive
or Multigenic/multifactorial|Adolescent|254770 604827 607628 607682 608816 611136 611364 613060 614280 +307052 307052|-|-|-|-| +307055 307055|-|-|-|-| +307058 307058|-|-|-|-| +307061 307061|-|-|-|-| +307064 307064|-|-|-|-| +307067 307067|-|-|-|-| +3071 3071|FCS syndrome
Faciocutaneoskeletal syndrome|Unknown|Autosomal dominant
or Not applicable|Neonatal
Antenatal|218040 +307141 307141|Diffuse PPK
Diffuse keratosis palmoplantaris
Diffuse palmoplantar hyperkeratosis|-|-|-| +307148 307148|Isolated diffuse PPK
Isolated diffuse keratosis palmoplantaris
Isolated diffuse palmoplantar hyperkeratosis|-|-|-| +3074 3074|Stoll-Géraudel-Chauvin syndrome|-|-|-| +3077 3077|Lindsay-Burn syndrome
PPM-X|<1 / 1 000 000|X-linked dominant|Childhood|300055 +307711 307711|Disease with diffuse palmoplantar hyperkeratosis as a major feature|-|-|-| +307766 307766|CHAC syndrome
CHACS|-|-|-|607656 +307773 307773|Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis|-|-|-| +3078 3078|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|309555 +307804 307804|Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature|-|-|-| +307837 307837|Focal PPK
Focal keratosis palmoplantaris
Focal palmoplantar hyperkeratosis|-|-|-| +307846 307846|Isolated focal PPK
Isolated focal keratosis palmoplantaris
Isolated focal palmoplantar hyperkeratosis|-|-|-| +307871 307871|Disease with focal palmoplantar hyperkeratosis as a major feature|-|-|-| +3079 3079|Mutchinick syndrome|-|-|-|249630 +307936 307936|HOPP syndrome
Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome
Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome
Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome|-|-|-|607658 +307967 307967|Punctate PPK
Punctate keratosis palmoplantaris
Punctate palmoplantar hyperkeratosis|-|-|-| +307995 307995|Marginal papular palmoplantar hyperkeratosis|-|Autosomal dominant|-| +308 308|PME type 1
Progressive myoclonic epilepsy type 1
Progressive myoclonus epilepsy type 1
ULD|1-9 / 1 000 000|Autosomal recessive|Childhood
Adolescent|254800 310370 612437 +3080 3080|Wolff-Zimmermann syndrome|-|-|-|277990 +308013 308013|PPKP3 without elastoidosis
PPPK3 without elastoidosis
Punctate palmoplantar hyperkeratosis type 3 without elastoidosis
Punctate palmoplantar keratoderma type 3 without elastoidosis|-|-|-| +308023 308023|Disease with punctate palmoplantar hyperkeratosis as a major feature|-|-|-| +308031 308031|Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature|-|-|-| +308041 308041|Autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature|-|-|-| +308166 308166|-|-|-|Neonatal
Infancy
Childhood| +3082 3082|Kozlowski-Krajewska syndrome|-|-|-| +308380 308380|Functional methionine synthase deficiency type cblDv1|-|-|-|277410 +308386 308386|Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A
MOCOD type A|-|-|-|252150 +308393 308393|Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B
MOCOD type B|-|-|-|252160 +308400 308400|Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C
MOCOD type C|-|-|-|615501 +308407 308407|-|-|-|-| +308410 308410|-|<1 / 1 000 000|Autosomal recessive|-|614923 +308425 308425|MCEE deficiency
Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency
Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency
Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency|-|-|-|251120 +308442 308442|Vitamin B12-responsive methylmalonic aciduria, type cblDv2|-|-|-|277410 +308448 308448|-|-|-|-| +308451 308451|-|-|-|-| +308459 308459|-|-|-|-| +308463 308463|-|-|-|-| +308467 308467|-|-|-|-| +308473 308473|Erythrocyte GALE deficiency
Erythrocyte GALE-D
Erythrocyte UDP-galactose-4-epimerase deficiency
Erythrocyte epimerase deficiency galactosemia
Erythrocyte uridine diphosphate galactose-4-epimerase deficiency|-|-|-| +308487 308487|Generalized GALE deficiency
Generalized GALE-D
Generalized UDP-galactose-4-epimerase deficiency
Generalized epimerase deficiency galactosemia
Generalized uridine diphosphate galactose-4-epimerase deficiency|-|-|-| +3085 3085|-|<1 / 1 000 000|Autosomal recessive|Childhood|268020 +308520 308520|GSD due to glycogen synthase deficiency
Glycogenosis due to glycogen synthase deficiency|-|-|-| +308552 308552|Alpha-1,4-glucosidase acid deficiency, infantile onset
GSD due to acid maltase deficiency, infantile onset
GSD type 2, infantile onset
GSD type II, infantile onset
Glycogen storage disease type 2, infantile onset
Glycogen storage disease type II, infantile onset
Glycogenosis due to acid maltase deficiency, infantile onset
Glycogenosis type 2, infantile onset
Glycogenosis type II, infantile onset
Pompe disease, infantile onset|Unknown|Autosomal recessive|Antenatal
Neonatal
Infancy| +3086 3086|ADVIRC|<1 / 1 000 000|Autosomal dominant|All ages|193220 +308621 308621|GBE deficiency, progressive hepatic form
GSD due to glycogen branching enzyme deficiency, progressive hepatic form
GSD type 4, progressive hepatic form
GSDIV, progressive hepatic form
Glycogen storage disease type 4, progressive hepatic form
Glycogen storage disease type IV, progressive hepatic form
Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form
Glycogenosis type 4, progressive hepatic form
Glycogenosis type IV, progressive hepatic form|-|-|-|232500 +308638 308638|GBE deficiency, non progressive hepatic form
GSD due to glycogen branching enzyme deficiency, non progressive hepatic form
GSD type 4, non progressive hepatic form
GSDIV, non progressive hepatic form
Glycogen storage disease type 4, non progressive hepatic form
Glycogen storage disease type IV, non progressive hepatic form
Glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form
Glycogenosis type 4, non progressive hepatic form
Glycogenosis type IV, non progressive hepatic form|-|-|-|232500 +308655 308655|GBE deficiency, fatal perinatal neuromuscular form
GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
GSD type 4, fatal perinatal neuromuscular form
GSDIV, fatal perinatal neuromuscular form
Glycogen storage disease type 4, fatal perinatal neuromuscular form
Glycogen storage disease type IV, fatal perinatal neuromuscular form
Glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Glycogenosis type 4, fatal perinatal neuromuscular form
Glycogenosis type IV, fatal perinatal neuromuscular form|-|-|-|232500 +308670 308670|GBE deficiency, congenital neuromuscular form
GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form
GSD type 4, congenital neuromuscular form
GSDIV, congenital neuromuscular form
Glycogen storage disease type 4, congenital neuromuscular form
Glycogen storage disease type IV, congenital neuromuscular form
Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form
Glycogenosis type 4, congenital neuromuscular form
Glycogenosis type IV, congenital neuromuscular form|-|-|-|232500 +308684 308684|GBE deficiency, childhood combined hepatic and myopathic form
GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
GSD type 4, childhood combined hepatic and myopathic form
GSDIV, childhood combined hepatic and myopathic form
Glycogen storage disease type 4, childhood combined hepatic and myopathic form
Glycogen storage disease type IV, childhood combined hepatic and myopathic form
Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Glycogenosis type 4, childhood combined hepatic and myopathic form
Glycogenosis type IV, childhood combined hepatic and myopathic form|-|-|-|232500 +308698 308698|GBE deficiency, childhood neuromuscular form
GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form
GSD type 4, childhood neuromuscular form
GSDIV, childhood neuromuscular form
Glycogen storage disease type 4, childhood neuromuscular form
Glycogen storage disease type IV, childhood neuromuscular form
Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form
Glycogenosis type 4, childhood neuromuscular form
Glycogenosis type IV, childhood neuromuscular form|-|-|-|232500 +3087 3087|-|<1 / 1 000 000|Unknown|Adult|268040 +308712 308712|GBE deficiency, adult neuromuscular form
GSD due to glycogen branching enzyme deficiency, adult neuromuscular form
GSD type 4, adult neuromuscular form
GSDIV, adult neuromuscular form
Glycogen storage disease type 4, adult neuromuscular form
Glycogen storage disease type IV, adult neuromuscular form
Glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form
Glycogenosis type 4, adult neuromuscular form
Glycogenosis type IV, adult neuromuscular form|-|-|-|232500 +3088 3088|Dyskeratosis congenita with bilateral exudative retinopathy
Retinopathy-anemia-central nervous system anomalies syndrome
Revesz-DeBuse syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Childhood|268130 +308993 308993|-|-|-|-| +308998 308998|-|-|-|-| +309 309|-|-|-|-| +3090 3090|Congenital pulmonary venous connection anomaly|-|-|-| +309001 309001|-|-|-|-| +309005 309005|-|-|-|-| +309015 309015|LPL deficiency|-|-|-|238600 +309020 309020|Familial apoC-II deficiency|-|Autosomal recessive|-|207750 +309025 309025|-|-|-|-| +309028 309028|-|-|-|-| +309031 309031|Pancreatic triglyceride lipase deficiency|-|-|-|614338 +3091 3091|-|-|-|-| +309108 309108|-|-|Autosomal recessive|-|614338 +309111 309111|-|-|-|-|614338 +309115 309115|-|-|-|-| +309120 309120|-|-|-|-| +309130 309130|-|-|-|-| +309133 309133|-|-|-|-| +309136 309136|-|-|-|-| +309144 309144|-|-|-|-| +309147 309147|Hyperalaninemia|-|-|-|237400 +309152 309152|-|-|-|-| +309155 309155|Hexosaminidases A and B deficiency, infantile form
Infantile GM2 gangliosidosis 0 variant|-|-|-|268800 +309162 309162|Hexosaminidases A and B deficiency, juvenile form
Juvenile GM2 gangliosidosis 0 variant|-|-|-|268800 +309169 309169|Adult GM2 gangliosidosis 0 variant
Hexosaminidases A and B deficiency, adult form|-|-|-|268800 +309178 309178|GM2 gangliosidosis, B variant, infantile form
Hexosaminidase A deficiency, infantile form|-|-|-| +309185 309185|GM2 gangliosidosis, B variant, juvenile form
Hexosaminidase A deficiency, juvenile form|-|-|-| +309192 309192|GM2 gangliosidosis, B variant, adult form
Hexosaminidase A deficiency, adult form|-|-|-| +3092 3092|-|Unknown|No data available|Childhood|271950 +309239 309239|GM2 gangliosidosis, B1 variant
Hexosaminidase A deficiency, B1 variant|-|-|-| +30924 30924|HOMG1
HSH
Hypomagnesemia caused by selective magnesium malabsorption
Hypomagnesemia intestinal type 1
Intestinal hypomagnesemia with secondary hypocalcemia
PHSH|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|602014 +309246 309246|Hexosaminidase activator deficiency|<1 / 1 000 000|-|Infancy|272750 +30925 30925|Hereditary CDI
Hereditary neurogenic diabetes insipidus|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked dominant|Childhood|125700 304900 +309252 309252|-|-|-|-|610539 +309256 309256|Arylsulfatase A deficiency, late infantile form
MLD, late infantile form|Unknown|-|Infancy| +309263 309263|Arylsulfatase A deficiency, juvenile form
MLD, juvenile form|Unknown|-|Childhood
Adolescent| +309271 309271|Arylsulfatase A deficiency, adult form
MLD, adult form|Unknown|-|Adult| +309279 309279|-|-|-|-| +309282 309282|Lysosomal alpha-D-mannosidase deficiency, infantile form|-|-|-| +309288 309288|Lysosomal alpha-D-mannosidase deficiency, adult form|-|-|-| +309294 309294|-|<1 / 1 000 000|Autosomal recessive|All ages| +309297 309297|GALNS deficiency
Galactosamine-6-sulfatase deficiency
MPS4A
MPSIVA
Morquio disease type A
Mucopolysaccharidosis type IVA
N-acetylgalactosamine-6-sulfate sulfatase deficiency|1-5 / 10 000|Autosomal recessive|Childhood|253000 +3093 3093|-|-|-|-| +309310 309310|Beta-D-galactosidase deficiency
MPS4B
MPSIVB
Morquio disease type B
Mucopolysaccharidosis type IVB|-|Autosomal recessive|-|253010 +309319 309319|-|-|-|-| +309324 309324|ISSD|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|269920 +309331 309331|-|-|Autosomal recessive|-| +309334 309334|-|<1 / 1 000 000|Autosomal recessive|Infancy|604369 +309337 309337|-|-|-|-| +309340 309340|-|-|-|-| +309347 309347|-|-|-|-| +309447 309447|-|-|-|-| +309450 309450|-|-|-|-| +309458 309458|-|-|-|-| +309463 309463|-|-|-|-| +309469 309469|-|-|-|-| +3095 3095|Atypical RTT
Rett syndrome variant|-|Autosomal dominant
or X-linked dominant|Infancy
Neonatal|300672 312750 613454 +309505 309505|-|-|-|-| +309515 309515|Disorder of glycosphingolipid and GPI-anchored proteins glycosylation|-|-|-| +309526 309526|-|-|-|-| +309568 309568|Defect in COG complex|-|-|-| +3096 3096|-|-|-|-| +3097 3097|Meacham-Winn-Culler syndrome
Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome|<1 / 1 000 000|-|Infancy
Neonatal|608978 +309778 309778|-|-|-|-| +309789 309789|-|-|-|-|215100 +309796 309796|-|-|-|-|222765 +3098 3098|-|-|-|-|268250 +309803 309803|-|-|-|-|600121 +309810 309810|-|-|-|-| +309813 309813|-|-|-|-| +309816 309816|-|-|-|-| +309819 309819|-|-|-|-| +309824 309824|-|-|-|-| +309827 309827|-|-|-|-| +309830 309830|-|-|-|-| +309833 309833|-|-|-|-| +309836 309836|-|-|-|-| +309839 309839|-|-|-|-| +309842 309842|-|-|-|-| +309845 309845|-|-|-|-| +309848 309848|-|-|-|-| +309851 309851|-|-|-|-| +309854 309854|-|<1 / 1 000 000|Autosomal recessive|Childhood|613280 +3099 3099|Acute rheumatic fever|Unknown|Not applicable|Childhood|268240 +31 31|Alpha-ketoglutarate dehydrogenase deficiency|Unknown|Autosomal recessive|Neonatal|203740 +310 310|-|Unknown|-|Childhood| +310050 310050|-|-|-|-| +3101 3101|Myotonia-intellectual disability-skeletal anomalies syndrome|-|-|-|255710 +3102 3102|Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome
Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|268305 +3103 3103|Pseudothalidomide syndrome
Roberts-SC phocomelia syndrome
SC phocomelia
SC pseudothalidomide syndrome|Unknown|Autosomal recessive|Neonatal
Antenatal|268300 269000 +3104 3104|Pierre Robin sequence-oligodactyly syndrome|-|-|-|172880 +31043 31043|FHHNC without severe ocular involvement
HOMG3
Renal hypomagnesemia type 3|<1 / 1 000 000|Autosomal recessive|Childhood|248250 +3105 3105|Saal-Greenstein syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +3107 3107|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|180700 616331 616894 +3109 3109|MRKH syndrome
Rokitansky syndrome|1-5 / 10 000|Autosomal dominant
or Not applicable|Antenatal
Adolescent|277000 601076 +3110 3110|-|<1 / 1 000 000|Unknown|Childhood|180730 +3111 3111|Hyperbilirubinemia, Rotor type|<1 / 1 000 000|Autosomal recessive|All ages|237450 +31112 31112|DFSP|1-5 / 10 000|Not applicable|All ages|607907 +31142 31142|-|-|-|-| +3115 3115|Hereditary areflexic dystasia, Roussy-Lévy type|-|-|Infancy
Childhood|180800 +31150 31150|ATP-binding cassette transporter A1 deficiency
Analphalipoproteinemia
Defective adenosine triphosphate-binding cassette transporter A1|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy
Childhood|205400 +31153 31153|-|-|-|-| +31154 31154|-|-|-|-| +312 312|BCIE
Bullous congenital ichthyosiform erythroderma
Bullous congenital ichthyosiform erythroderma of Brock
Bullous ichthyosis
EHK
EI
Epidermolytic hyperkeratosis|1-9 / 1 000 000|Autosomal dominant
or Autosomal recessive
or Not applicable|Neonatal|113800 607602 +31202 31202|-|Unknown|-|All ages|615557 +31204 31204|-|Unknown|-|All ages| +31205 31205|-|Unknown|-|-| +3121 3121|-|Unknown|Unknown|Infancy
Neonatal|180870 +3124 3124|Hyperlysinemia type II
Saccharopine dehydrogenase deficiency|Unknown|-|Infancy
Neonatal|268700 +3128 3128|ACPS III
ACPS with leg hypoplasia
Acrocephalopolysyndactyly type 3
Sakati syndrome
Sakati-Nyhan-Tisdale syndrome|-|-|-| +3129 3129|Sarcosine dehydrogenase complex deficiency|1-9 / 100 000|Autosomal recessive|All ages|268900 +313 313|Classic lamellar ichthyosis
Congenital lamellar ichthyosis
LI|1-9 / 1 000 000|Autosomal recessive|Neonatal|242300 601277 604777 606545 612281 613943 +3130 3130|Komuragaeri disease|<1 / 1 000 000|Not applicable|Childhood
Adolescent
Adult|600705 +3132 3132|Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal|251240 +3133 3133|Triphalangeal thumbs-dislocation of patella syndrome|-|-|-|190650 +3134 3134|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|312830 +3135 3135|Familial Scheuermann juvenile kyphosis
Familial spinal osteochondrosis|-|Autosomal dominant|Adolescent|181440 +3137 3137|NAGA deficiency
Schindler disease|<1 / 1 000 000|Autosomal recessive|All ages|609241 609242 +313772 313772|AFG3L2-related spastic ataxia-neuropathy syndrome
Autosomal recessive spastic ataxia type 5
SPAX5|<1 / 1 000 000|Autosomal recessive|Childhood|614487 +313781 313781|20p subtelomeric deletion syndrome
Del(20)(p13)
Monosomy 20p13|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal| +313795 313795|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|251255 +3138 3138|Pallister ulnar-mammary syndrome
Schinzel syndrome
UMS|Unknown|Autosomal dominant|Infancy
Neonatal|181450 +313800 313800|-|<1 / 1 000 000|Autosomal dominant|Childhood|614979 +313808 313808|ALSP
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Autosomal dominant leukoencephalopathy with neuroaxonal spheroids
FPSG
Familial dementia, Neumann type
Familial progressive subcortical gliosis
GPSC
HDLS
Hereditary diffuse leukoencephalopathy with spheroids
POLD
Pigmentary orthochromatic leukodystrophy
Subcortical gliosis of Neumann|<1 / 1 000 000|Autosomal dominant|Adult|221820 +313838 313838|CRMCC
Cerebroretinal microangiopathy with calcifications and cysts|<1 / 1 000 000|Autosomal recessive|Childhood|612199 +313846 313846|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|614564 +313850 313850|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614559 +313855 313855|Perinatal lethal bent bone dysplasia|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|614592 +313884 313884|Del(12)(p12.1)
Monosomy 12p12.1|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal|616803 +313892 313892|-|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal|616803 +313906 313906|Neonatal congenital pancreatic cyst
True congenital pancreatic cyst|<1 / 1 000 000|Unknown|Infancy
Neonatal| +313920 313920|EBV-associated gastric carcinoma
EBVaGC|Unknown|Multigenic/multifactorial|-| +313936 313936|Papular epidermal nevi with skyline basal cell layers syndrome|<1 / 1 000 000|Not applicable|Infancy
Neonatal| +313947 313947|Dup(2)(q23.1)
Trisomy 2q23.1|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal| +314 314|Leiner disease|-|-|-| +314002 314002|Dinno syndrome|<1 / 1 000 000|No data available|Infancy
Neonatal| +314017 314017|-|Unknown|Unknown|-| +314022 314022|Familial fundic gland polyposis with gastric cancer
GAPPS|<1 / 1 000 000|Autosomal dominant|Adult| +314029 314029|High bone mass OI|<1 / 1 000 000|Autosomal dominant|Childhood| +314034 314034|Dup(7)(p22.1)
Trisomy 7p22.1|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +314041 314041|-|<1 / 1 000 000|-|-| +314051 314051|COXPD12
Combined oxidative phosphorylation deficiency type 12
LTBL|<1 / 1 000 000|No data available|Neonatal
Infancy|614924 +3143 3143|APS type 2
APS2
Autoimmune polyendocrine syndrome type 2
Autoimmune polyglandular syndrome type 2
Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome
Schmidt syndrome|Unknown|-|Adult|269200 +314373 314373|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|614616 +314376 314376|Meconium ileus due to guanylate cyclase 2C deficiency|<1 / 1 000 000|Autosomal recessive|Neonatal|614665 +314381 314381|Familial dysautonomia with contractures
HSAN6|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614653 +314389 314389|Dup(X)(q12-q13.3)|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal| +314394 314394|SOFT syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614813 +314399 314399|Autosomal dominant aplastic anemia and myelodysplasia|<1 / 1 000 000|Autosomal dominant|Childhood|614675 +3144 3144|Chondrodysplasia with snail-like pelvis
SLC35D1-CDG|<1 / 1 000 000|Autosomal recessive|Antenatal|269250 +314404 314404|ADCA-DN
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome|<1 / 1 000 000|Autosomal dominant
or Not applicable|Adult|604121 +314419 314419|Ameloblastoma of jaw|Unknown|Not applicable|All ages| +314422 314422|-|<1 / 1 000 000|Not applicable|All ages| +314425 314425|-|-|-|-| +314432 314432|-|<1 / 1 000 000|Not applicable|Infancy
Neonatal| +314451 314451|Demons-Meigs syndrome|Unknown|Not applicable|Adult| +314459 314459|Pseudo-Demons-Meigs syndrome|Unknown|Not applicable|Adult| +314466 314466|Atypical Demons-Meigs syndrome|<1 / 1 000 000|Not applicable|Adult| +314473 314473|-|Unknown|Not applicable|Adult| +314478 314478|-|Unknown|Not applicable|Adult| +314485 314485|Autosomal recessive distal spinal muscular atrophy type 5
Young adult-onset dHMN
dSMA5|<1 / 1 000 000|Autosomal recessive|Adult|614881 +3145 3145|Schofer-Beetz-Bohl syndrome|-|-|-|221995 +314555 314555|Hamamy syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|611174 +314566 314566|PPAOS|<1 / 1 000 000|Unknown|Adult| +314572 314572|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +314575 314575|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +314588 314588|Tetrasomy 15(q25-qter)
Tetrasomy 15q26|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal|614846 +314597 314597|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|604213 +314603 314603|ARSAL
Autosomal recessive spastic ataxia type 3
SPAX3|<1 / 1 000 000|Autosomal recessive|Adolescent
Adult
Childhood|611390 +314613 314613|-|Unknown|Not applicable|Adult| +314621 314621|DPG-plus syndrome
Duplication of the pituitary gland-plus syndrome
Hypophyseal duplication|<1 / 1 000 000|Not applicable|Infancy
Neonatal| +314629 314629|-|<1 / 1 000 000|Autosomal recessive|Adult|614706 +314632 314632|CLN12 disease|<1 / 1 000 000|Autosomal recessive|Childhood|606693 +314637 314637|COXPD10
Combined oxidative phosphorylation defect type 10|<1 / 1 000 000|Unknown|Infancy
Neonatal|614702 +314647 314647|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|614756 +314652 314652|Autosomal dominant beta2-microglobulinic amyloidosis|<1 / 1 000 000|Autosomal dominant|Adult| +314655 314655|5q31.3 microdeletion syndrome
Del(5)(q31.3)
Monosomy 5q31.3|<1 / 1 000 000|Unknown|Infancy
Neonatal| +314662 314662|-|<1 / 1 000 000|-|-| +314667 314667|CDG syndrome type IIk
CDG-IIk
CDG2K
Carbohydrate deficient glycoprotein syndrome type IIk
Congenital disorder of glycosylation type 2k
Congenital disorder of glycosylation type IIk|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614727 +314679 314679|Van Maldergem syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|601390 615546 +314684 314684|-|Unknown|-|All ages| +314689 314689|CID due to STK4 deficiency|<1 / 1 000 000|Autosomal recessive|Childhood|614868 +314697 314697|-|-|-|-| +314701 314701|Systemic AL amyloidosis|-|Not applicable|-|254500 +314709 314709|Localized AL amyloidosis|-|Not applicable|-| +314718 314718|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +314721 314721|Dentin dysplasia type 1 with microdontia and shape anomalies|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|125400 +314749 314749|-|-|-|-| +314753 314753|Endocrine active pituitary adenoma
Secreting pituitary adenoma|-|-|-| +314759 314759|Mixed secreting pituitary adenoma|-|-|-| +314769 314769|GH and PRL cosecreting pituitary adenoma
Growth hormone and prolactin cosecreting pituitary adenoma|-|-|-| +314777 314777|FIPA|Unknown|Autosomal dominant|All ages|102200 600634 +314786 314786|-|-|Not applicable|-| +314790 314790|-|-|Not applicable|-| +314795 314795|-|Unknown|-|Infancy
Neonatal|300582 +3148 3148|MPNST
Malignant neurilemmoma
Malignant neurofibroma
Malignant schwannoma
Neurofibrosarcoma
Neurogenic sarcoma|Unknown|Not applicable|Infancy
Childhood
Adolescent
Adult
Elderly| +314802 314802|Short stature due to partial growth hormone receptor deficiency|Unknown|Unknown|Childhood|604271 +314811 314811|Ghrelin receptor deficiency
Short stature due to growth hormone secretagogue receptor deficiency|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|615925 +314822 314822|-|-|-|-| +314889 314889|AD pRTA|<1 / 1 000 000|Autosomal dominant|Childhood| +314911 314911|Infantile Canavan disease
Neonatal Canavan disease|Unknown|Autosomal recessive|Infancy
Neonatal| +314918 314918|Juvenile Canavan disease|<1 / 1 000 000|Autosomal recessive|Childhood| +314928 314928|Chronic adult hydrocephalus
NPH|1-5 / 10 000|Not applicable|Adult| +314946 314946|-|Unknown|Not applicable|All ages| +314950 314950|Clonal hypereosinophilic syndrome
HES-M
HES-N
Neoplastic hypereosinophilic syndrome
Primary HES|Unknown|-|All ages| +314962 314962|HES-R
Reactive hypereosinophilic syndrome
Secondary HES|Unknown|-|All ages| +314970 314970|HES-L
Lymphocytic variant HES
Lymphoid HES|Unknown|-|All ages| +314978 314978|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300703 +314993 314993|-|-|-|-|608227 +315 315|Degos genodermatosis "en cocardes"|<1 / 1 000 000|Autosomal dominant|Childhood| +3151 3151|-|<1 / 1 000 000|Unknown|Childhood| +3152 3152|Cortical hyperostosis-syndactyly syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Childhood|269500 614305 +315306 315306|Classic 21-OHD CAH, salt wasting form|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal| +315311 315311|Classic 21-OHD CAH, simple virilizing form|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal| +315350 315350|-|-|-|-| +3156 3156|Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN|<1 / 1 000 000|Autosomal recessive|Childhood|266900 606995 606996 609254 610189 613615 614845 616307 616629 +3157 3157|De Morsier syndrome
SOD
Septo-optic dysplasia|Unknown|Autosomal dominant
or Autosomal recessive
or Multigenic/multifactorial
or Not applicable|Infancy
Neonatal|182230 +316 316|Darier-Gottron disease
Erythrokeratodermia progressiva symmetrica
Progressive symmetric erythrokeratodermia, Gottron type|Unknown|Autosomal dominant|Infancy
Neonatal| +3161 3161|Congenital bronchopulmonary sequestration|-|-|-| +3162 3162|Sézary lymphoma|Unknown|Not applicable
or Multigenic/multifactorial|Adult| +316226 316226|SPAX|-|-|-| +316235 316235|AD-SPAX|-|-|-| +316240 316240|AR-SPAX|-|-|-| +316244 316244|Partial deletion of chromosome 12p
Partial monosomy of chromosome 12p
Partial monosomy of the short arm of chromosome 12|-|-|-| +3163 3163|Aarskog-Ose-Pande syndrome
Lipodystrophy-Rieger anomaly-diabetes syndrome
Rieger anomaly-partial lipodystrophy syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal|269880 +3164 3164|-|-|-|-|182210 +3165 3165|Diffuse fasciitis with eosinophilia
Shulman syndrome|Unknown|Unknown|Adult|226350 +3166 3166|Sialuria, French type|<1 / 1 000 000|Autosomal dominant|Infancy|269921 +3167 3167|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +3168 3168|Brachydactyly-symphalangism syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|113450 +3169 3169|-|<1 / 1 000 000|Not applicable|Neonatal
Antenatal|600145 +317 317|EKV
Erythrokeratodermia variabilis, Mendes da Costa type|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|133200 +31709 31709|ICCA syndrome
Paroxysmal kinesigenic dyskinesia and infantile convulsions|Unknown|Autosomal dominant|Infancy
Neonatal|602066 +3172 3172|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|227210 +3173 3173|Tsao-Ellingson syndrome|-|-|-| +31740 31740|Extrinsic allergic alveolitis
HP|Unknown|Not applicable|All ages| +317416 317416|T-B+ SCID|-|-|-| +317419 317419|T-B- SCID|-|-|-| +317425 317425|SCID due to DNA-PKcs deficiency|-|-|-|615966 +317428 317428|CID due to ORAI1 deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|612782 +317430 317430|CID due to STIM1 deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|612783 +317473 317473|CID due to IKAROS deficiency
Combined immunodeficiency due to IKAROS deficiency|-|Autosomal dominant|-|616873 +317476 317476|CID due to MAGT1 deficiency
Combined immunodeficiency due to MAGT1 deficiency
XMEN|<1 / 1 000 000|Unknown|All ages|300853 +3175 3175|-|<1 / 1 000 000|X-linked recessive|No data available|308350 +3176 3176|-|-|-|-| +3177 3177|Der Kaloustian-Jarudi-Khoury syndrome
Spinocerebellar degeneration-corneal dystrophy syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|271310 +318 318|AML M6
Acute myeloid leukemia M6
Erythroleukemia|-|-|Adult|133180 +3180 3180|-|<1 / 1 000 000|-|-|600000 +3181 3181|High scapula|-|-|-|184400 +31824 31824|-|1-9 / 1 000 000|Not applicable|All ages| +31825 31825|-|Unknown|Not applicable|All ages| +31826 31826|-|Unknown|Not applicable|All ages| +31827 31827|-|Unknown|Not applicable|All ages| +31828 31828|-|Unknown|Not applicable|All ages| +31837 31837|-|-|Autosomal recessive
or Not applicable|All ages|265450 +3184 3184|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|184510 +3186 3186|Steinfeld syndrome|-|-|-|184705 +3188 3188|-|Unknown|Not applicable|Childhood| +3189 3189|-|1-5 / 10 000|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal|265500 +319 319|-|Unknown|Not applicable|Childhood|612219 +3190 3190|-|-|-|-| +3191 3191|Onat syndrome|-|-|-|271960 +319160 319160|CNM4
Centronuclear myopathy type 4|-|Autosomal dominant|-|614807 +319171 319171|Distal del(17)(p13.1)|-|-|-| +319182 319182|Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome|-|X-linked recessive
or Unknown|-|605130 +319189 319189|-|<1 / 1 000 000|Autosomal dominant|Adult|614937 +319192 319192|-|-|Autosomal recessive|-| +319195 319195|-|-|-|-| +319199 319199|SPG53|<1 / 1 000 000|Autosomal recessive|Infancy|614898 +3192 3192|-|-|-|-| +319205 319205|BMAH
Bilateral adrenal hemorrhage|-|-|-| +319213 319213|Zambian hemorrhagic fever|-|-|-| +319218 319218|EHF
Ebola fever
Ebola virus disease|<1 / 1 000 000|-|All ages| +319223 319223|Argentinian hemorrhagic fever
Junin hemorrhagic fever|-|-|-| +319229 319229|Machupo hemorrhagic fever|-|-|-| +319234 319234|Guanarito hemorrhagic fever|-|-|-| +319239 319239|Sabia hemorrhagic fever|-|-|-| +319244 319244|-|-|-|-| +319247 319247|-|-|-|-| +319251 319251|-|-|-|All ages| +319254 319254|Kyasanur hemorrhagic fever
Monkey disease
Monkey fever|-|-|-| +319266 319266|-|-|-|-| +319269 319269|-|-|-|-| +319276 319276|CCRCC
Clear cell renal cell adenocarcinoma
Clear cell renal cell carcinoma|-|-|-| +319287 319287|Multilocular clear cell adenocarcinoma
Multilocular clear cell carcinoma
Multilocular clear cell renal cell adenocarcinoma
Multilocular clear cell renal cell carcinoma
Multilocular cystic renal cell adenocarcinoma|-|-|-| +319298 319298|Papillary renal cell adenocarcinoma|-|-|-| +3193 3193|SVAS|1-5 / 10 000|Autosomal dominant|All ages|185500 +319303 319303|Chromophobe renal cell adenocarcinoma|-|-|-| +319308 319308|Carcinoma associated with MITF/TFE translocation
Translocation carcinoma|-|-|-|300854 +319314 319314|Renal cell carcinoma after neuroblastoma|-|-|-| +319319 319319|-|-|-|-| +319322 319322|-|-|-|-| +319325 319325|-|-|-|-| +319328 319328|-|-|-|-| +319332 319332|Autosomal recessive myogenic AMC
SYNE1-related AMC
SYNE1-related arthrogryposis multiplex congenita|-|-|-| +319340 319340|Carney complex variant|-|-|-|608837 +3194 3194|Corneo-dermato-osseous syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|122440 +319462 319462|-|-|-|-|605724 +319465 319465|Familial AML
Inherited AML
Pure familial AML
Pure familial acute myeloid leukemia|-|-|-| +319480 319480|AML with CEBPA somatic mutations|-|-|-| +319487 319487|FNMTC
Familial pure nonmedullary thyroid carcinoma|-|-|-|188470 188550 603386 603744 606240 616534 616535 +319494 319494|-|-|-|-| +319504 319504|COXPD8|<1 / 1 000 000|-|Neonatal
Infancy|614096 +319509 319509|COXPD9|<1 / 1 000 000|-|Infancy|614582 +319514 319514|COXPD13|<1 / 1 000 000|-|Infancy|614932 +319519 319519|COXPD14|<1 / 1 000 000|-|Neonatal
Infancy|614946 +319524 319524|COXPD15|<1 / 1 000 000|-|Infancy
Childhood|614947 +319535 319535|Autosomal recessive MSMD due to a complete deficiency|Unknown|Autosomal recessive|All ages| +319539 319539|Autosomal recessive MSMD due to a partial deficiency|Unknown|Autosomal recessive|All ages| +319543 319543|Autosomal dominant MSMD due to a partial deficiency|Unknown|Autosomal dominant|-| +319547 319547|MSMD due to complete IFNgammaR2 deficiency
MSMD due to complete interferon gamma receptor 2 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614889 +319552 319552|MSMD due to complete IL12RB1 deficiency
MSMD due to complete interleukin 12 receptor beta 1 deficiency
Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency|Unknown|Autosomal recessive|Childhood|614891 +319558 319558|MSMD due to complete IL12B deficiency
MSMD due to complete interleukin 12B deficiency
Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614890 +319563 319563|MSMD due to complete ISG15 deficiency|<1 / 1 000 000|Autosomal recessive|Childhood|616126 +319569 319569|Autosomal recessive MSMD due to partial IFNgammaR1 deficiency
Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency|<1 / 1 000 000|Autosomal recessive|-|209950 +319574 319574|Autosomal recessive MSMD due to partial IFNgammaR2 deficiency
Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency|<1 / 1 000 000|Autosomal recessive|-|614889 +319581 319581|Autosomal dominant MSMD due to partial IFNgammaR1 deficiency
Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency|<1 / 1 000 000|Autosomal dominant|Adolescent|615978 +319589 319589|Autosomal dominant MSMD due to partial IFNgammaR2 deficiency
Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency|<1 / 1 000 000|Autosomal dominant|-| +319595 319595|MSMD due to partial STAT1 deficiency
MSMD due to partial signal transducer and activator of transcription 1 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency|<1 / 1 000 000|Autosomal dominant|Childhood|614892 +3196 3196|Lyngstadaas syndrome|<1 / 1 000 000|Autosomal recessive|Childhood| +319600 319600|MSMD due to partial IRF8 deficiency
MSMD due to partial interferon regulatory factor 8 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|614893 +319605 319605|X-linked MSMD|<1 / 1 000 000|X-linked recessive|-|300636 300645 +319612 319612|X-linked MSMD due to IKBKG deficiency
X-linked MSMD due to NEMO deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency|<1 / 1 000 000|-|-|300636 +319623 319623|X-linked MSMD due to CYBB deficiency|-|-|-|300645 +319635 319635|Amyloidosis cutis dyschromica|-|-|-| +319640 319640|MCDR2|<1 / 1 000 000|-|Adolescent
Adult|608051 +319646 319646|CDG syndrome type It
CDG-It
CDG1T|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|614921 +319651 319651|DHFR deficiency
Dihydrofolate reductase deficiency|<1 / 1 000 000|-|Infancy
Childhood|613839 +319658 319658|-|-|-|-| +319667 319667|Primary lymphoid conjunctival tumor|-|-|-| +319671 319671|-|<1 / 1 000 000|-|Antenatal
Neonatal|615071 +319675 319675|-|<1 / 1 000 000|-|Antenatal
Neonatal|614851 +319678 319678|-|<1 / 1 000 000|-|Neonatal|614654 +3197 3197|Congenital stiff man syndrome
Familial startle disease
Hereditary hyperexplexia
Hyperekplexia
Kok disease
Stiff baby syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|149400 614618 614619 +319719 319719|-|-|-|-| +3198 3198|Moersch-Woltman syndrome
SMS
SPS
Stiff man syndrome|1-9 / 1 000 000|Not applicable|Adult|184850 +3199 3199|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|202900 +32 32|Pyroglutamicaciduria|<1 / 1 000 000|Autosomal recessive|Neonatal|231900 266130 +320 320|11-beta-hydroxysteroid dehydrogenase deficiency type 2
Ulick syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|218030 +3200 3200|Arthrogryposis-ectodermal dysplasia-other anomalies syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal| +3201 3201|Stoll-Kieny-Dott syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal|192445 +3202 3202|Hereditary xerocytosis|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|194380 616689 +3203 3203|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|185000 +320317 320317|CLEPD|-|-|-| +320332 320332|-|-|-|-| +320335 320335|Pure or complex familial spastic paraplegia
Pure or complicated familial spastic paraplegia
Pure or complicated hereditary spastic paraplegia|-|-|-| +320342 320342|Pure or complicated autosomal dominant spastic paraplegia|-|-|-| +320346 320346|Pure or complicated autosomal recessive spastic paraplegia|-|-|-| +320350 320350|Pure or complicated X-linked spastic paraplegia|-|-|-| +320355 320355|SPG41|<1 / 1 000 000|-|Childhood|613364 +320360 320360|Maternally-inherited SPG|<1 / 1 000 000|-|Adult| +320365 320365|SPG36|<1 / 1 000 000|-|Adolescent
Adult|613096 +320370 320370|SPG43|<1 / 1 000 000|-|Childhood
Adolescent|615043 +320375 320375|SPG55|<1 / 1 000 000|Autosomal recessive|Childhood|615035 +320380 320380|SPG54|<1 / 1 000 000|Autosomal recessive|Infancy|615033 +320385 320385|SPG49|<1 / 1 000 000|-|Infancy|615031 +320391 320391|SPG46|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood|614409 +320396 320396|Autosomal recessive spastic paraplegia type 65
SPG45
SPG65|<1 / 1 000 000|-|Neonatal
Infancy|613162 +3204 3204|Stormorken syndrome
Thrombocytopathy-asplenia-miosis syndrome|<1 / 1 000 000|Autosomal dominant|All ages|185070 +320401 320401|SPG44|<1 / 1 000 000|Autosomal recessive|Adolescent
Adult|613206 +320406 320406|SPOAN|<1 / 1 000 000|Autosomal recessive|Infancy|609541 +320411 320411|SPG56|<1 / 1 000 000|-|Neonatal
Infancy
Childhood|615030 +3205 3205|Encephalofacial angiomatosis
Encephalotrigeminal angiomatosis
SWS
Sturge-Weber-Dimitri syndrome
Sturge-Weber-Krabbe angiomatosis
Sturge-Weber-Krabbe syndrome|1-9 / 100 000|Not applicable|Infancy
Neonatal
Childhood
Adolescent|185300 +3206 3206|Neonatal Schwartz-Jampel syndrome
SJS2
Schwartz-Jampel syndrome type 2
Stüve-Wiedemann dysplasia
Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|601559 +3207 3207|Curatolo-Cilio-Pessagno syndrome|-|-|-| +3208 3208|Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency|<1 / 1 000 000|Autosomal recessive|-|252011 +321 321|Bessel-Hagen disease
EXT1/EXT2-CDG
Multiple cartilaginous exostoses|1-9 / 100 000|Autosomal dominant|Childhood|133700 133701 600209 +3210 3210|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|272350 +3214 3214|Warburg-Thomsen syndrome
Yemenite deaf-blind hypopigmentation syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|601706 +3216 3216|Conductive hearing loss-malformed external ear syndrome
Mengel-Konigsmark syndrome|-|Unknown|-|221300 +3217 3217|Groll-Hirschowitz syndrome|-|-|-|221400 +3218 3218|Chitty-Hall-Baraitser syndrome|-|-|-|601351 +3219 3219|Deafness-skeletal dysplasia-coarse face with full lips syndrome
Deafness-skeletal dysplasia-lip granuloma syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|229120 +322 322|BEEC
Bladder exstrophy-epispadias-cloacal extrophy complex
EEC|Unknown|Multigenic/multifactorial|Neonatal
Antenatal|258040 600057 +3220 3220|Heimler syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|234580 616617 +3221 3221|Deafness-thyroid hormone resistance syndrome
Refetoff syndrome|-|-|-|188570 274300 +322126 322126|-|-|-|-| +3222 3222|PRPP synthetase superactivity
PRPS1 superactivity|<1 / 1 000 000|X-linked recessive|Adolescent
Adult
Infancy
Childhood|300661 +3224 3224|Pfeiffer-Kapferer syndrome|<1 / 1 000 000|-|Infancy
Neonatal| +3225 3225|Tungland-Bellman syndrome|-|-|-| +3226 3226|Emberger syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|614038 +3230 3230|-|-|-|-|221740 +3231 3231|-|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Childhood|124480 220500 +3232 3232|Sellars-Beighton syndrome|-|-|-|124490 +3233 3233|-|-|-|-|120040 +3235 3235|Stapedo-vestibular ankylosis
Thies-Reis syndrome|Unknown|Autosomal recessive|Childhood|601449 +3236 3236|Jackson-Barr syndrome|-|-|-|221320 +3237 3237|Deafness-Hermann type symphalangism syndrome
Facio-audio-symphalangism
Symphalangism-brachydactyly syndrome
WL syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|186500 610017 612961 +3238 3238|Forney syndrome
Forney-Robinson-Pascoe syndrome
Mitral regurgitation-deafness-skeletal anomalies syndrome|<1 / 1 000 000|Autosomal dominant|All ages|157800 +3239 3239|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|221350 +324 324|Alpha-galactosidase A deficiency
Anderson-Fabry disease
Angiokeratoma corporis diffusum
Diffuse angiokeratoma
FD|1-5 / 10 000|X-linked recessive|Childhood|301500 +3240 3240|Yoshimura-Takeshita syndrome|<1 / 1 000 000|Unknown|No data available| +3241 3241|-|-|-|-|125230 +3242 3242|X-linked intellectual disability due to PQBP1 mutations
X-linked intellectual disability, Renpenning type|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|309500 +324262 324262|Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency
Autosomal recessive spinocerebellar ataxia type 13
SCAR13|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614831 +324290 324290|-|<1 / 1 000 000|Autosomal recessive|Childhood|616640 +324294 324294|T-cell immunodeficiency due to RHOH deficiency|<1 / 1 000 000|Autosomal recessive|Childhood| +324299 324299|Multiple paragangliomas associated with erythrocytosis
Paraganglioma-somatostatinoma-polycythemia syndrome|<1 / 1 000 000|Not applicable|Childhood| +3243 3243|Acute febrile neutrophilic dermatosis|<1 / 1 000 000|Unknown|Adult|608068 +324307 324307|-|<1 / 1 000 000|Unknown|Childhood| +324313 324313|Del(9)(p13)
Monosomy 9p13|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal| +324321 324321|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614896 +324353 324353|-|Unknown|-|Infancy
Neonatal| +324364 324364|-|-|-|-| +324381 324381|HIBM4|<1 / 1 000 000|Autosomal dominant|Adult| +324410 324410|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300886 +324416 324416|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +324422 324422|CDG syndrome type Is
CDG-Is
CDG1S
Congenital disorder of glycosylation type 1s
Congenital disorder of glycosylation type Is|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300884 +324442 324442|ARAN-NM
ARCMT2-NM
Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia|<1 / 1 000 000|Autosomal recessive|Childhood|137200 +324525 324525|Hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation|<1 / 1 000 000|-|Infancy
Neonatal| +324530 324530|APLAID|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|614878 +324535 324535|COXPD11|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614922 +324540 324540|Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +324561 324561|Cole disease
Guttate hypopigmentation and punctate palmoplantar keratoderma
Hypopigmentation and punctate keratosis of the palms and soles|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|615522 +324569 324569|PCH8
Pontocerebellar hypoplasia due to CHMP1A mutation|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614961 +324575 324575|Hyperinsulinemic hypoglycemia due to HNF1A deficiency|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +324581 324581|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +324585 324585|-|<1 / 1 000 000|Autosomal dominant|All ages| +324588 324588|FDFM|<1 / 1 000 000|Autosomal dominant|Childhood|606703 +3246 3246|Learman syndrome|<1 / 1 000 000|-|Infancy
Neonatal|185750 +324601 324601|-|Unknown|X-linked recessive
or X-linked dominant|Infancy
Neonatal|303400 +324604 324604|Classic MmD
Classic multiminicore disease|-|-|-|602771 +324611 324611|CMT2 due to KIF5A mutation|Unknown|Autosomal dominant|-| +324625 324625|-|Unknown|-|All ages| +324632 324632|-|<1 / 1 000 000|-|All ages| +324636 324636|GDS
Gardner-Diamond syndrome
Painful bruising syndrome
Psychogenic purpura|Unknown|-|Adult| +324648 324648|-|Unknown|-|All ages| +324703 324703|ABeta amyloidosis, Piedmont type
ABetaL34V-related amyloidosis
HCHWA, Piedmont type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type|<1 / 1 000 000|Autosomal dominant|Adult
Elderly|605714 +324708 324708|ABetaD23N amyloidosis
HCHWA, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type|<1 / 1 000 000|Autosomal dominant|Elderly|605714 +324713 324713|ABetaE22K amyloidosis
HCHWA, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Italian type|<1 / 1 000 000|Autosomal dominant|Adult
Elderly|605714 +324718 324718|ABeta amyloidosis, Flemish type
ABetaA21G-related amyloidosis
HCHWA, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type|<1 / 1 000 000|Autosomal dominant|Adult|605714 +324723 324723|ABetaE22G amyloidosis
HCHWA, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Arctic type|<1 / 1 000 000|Autosomal dominant|Adult
Elderly|605714 +324737 324737|CDG-Iq
CDG1Q
Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type Iq|<1 / 1 000 000|-|Neonatal
Infancy|612379 +324761 324761|-|-|-|-| +324764 324764|-|-|-|-| +324767 324767|-|-|-|-| +3248 3248|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|185700 +324924 324924|-|-|-|-| +324927 324927|-|-|-|-| +324930 324930|-|-|-|-| +324933 324933|-|-|-|-| +324936 324936|-|-|-|-| +324939 324939|-|-|-|-| +324942 324942|-|-|-|-| +324950 324950|-|-|-|-| +324953 324953|-|-|-|-| +324960 324960|-|-|-|-| +324964 324964|CRMO|1-9 / 1 000 000|Not applicable|Childhood
Adolescent|259680 +324972 324972|Mouth and genital ulcers with inflamed cartilage|-|-|-| +324977 324977|ALDD syndrome
Autoinflammation-lipodystrophy-dermatosis syndrome
PRAAS
Proteasome-associated autoinflammatory syndrome|<1 / 1 000 000|Autosomal recessive|Childhood
Infancy
Neonatal|256040 +324999 324999|Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|256040 +325 325|Dysprothrombinemia
Hypoprothrombinemia
Prothrombin deficiency|<1 / 1 000 000|Autosomal recessive|All ages|613679 +3250 3250|Symphalangism, Cushing type|Unknown|Autosomal dominant|Infancy
Neonatal|185800 615298 +325004 325004|Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|256040 +325109 325109|Syndrome with 46,XX DSD|-|-|-| +325124 325124|Bilateral anorchia|-|-|-| +3253 3253|CLPED1
Cleft lip/palate-ectodermal dysplasia syndrome
Cleft lip/palate-syndactyly-pili torti syndrome
Syndactyly-ectodermal dysplasia-cleft/lip palate
Zlotogora-Zilberman-Tenenbaum syndrome|Unknown|Autosomal recessive|Infancy
Neonatal|225060 +325448 325448|46,XY DSD due to LHB deficiency
46,XY DSD due to luteinizing hormone subunit beta deficiency
46,XY disorder of sex development due to LHB deficiency
46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency
Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency|-|-|-|228300 +3255 3255|Type 1 syndactyly-microcephaly-intellectual disability syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|272440 +325524 325524|Classic CLAH|-|-|-| +325529 325529|-|-|-|-| +325546 325546|Sex chromosome DSD|-|-|-| +325620 325620|DSD of gynecological interest|-|-|-| +325638 325638|Syndrome with DSD of gynecological interest|-|-|-| +325665 325665|Genetic DSD of gynecological interest|-|-|-| +325690 325690|Genetic DSD|-|-|-| +325697 325697|Genetic 46,XX DSD
Genetic female pseudohermaphroditism|-|-|-| +325706 325706|Genetic 46,XY DSD|-|-|-| +325713 325713|Genetic 46,XY DSD of endocrine origin|-|-|-| +3258 3258|Cenani syndactyly
Cenani-Lenz syndactyly
Syndactyly type 7|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|212780 +3259 3259|-|-|-|-|186350 +326 326|Owren disease
Parahemophilia
Proaccelerin deficiency|1-9 / 1 000 000|Autosomal recessive|All ages|227400 +3260 3260|-|Unknown|-|Adult|607685 +3261 3261|ALPS
Canale-Smith syndrome
FAS deficiency|Unknown|Autosomal dominant
or Autosomal recessive|All ages|601859 603909 615559 +3262 3262|-|<1 / 1 000 000|-|-| +3263 3263|-|-|-|-| +3265 3265|Humero-radial fusion|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|All ages|143050 236400 +3266 3266|Humero-radio-ulnar fusion|<1 / 1 000 000|Unknown|All ages| +3267 3267|-|-|-|-|600775 +3268 3268|Giuffré-Tsukahara syndrome
Tsukahara syndrome|<1 / 1 000 000|Unknown|Antenatal
Neonatal|603438 +3269 3269|Radioulnar fusion|Unknown|Unknown|Infancy
Childhood|179300 +327 327|Congenital proconvertin deficiency
Hypoproconvertinemia|1-9 / 1 000 000|Autosomal recessive|All ages|227500 +3270 3270|Der Kaloustian-McIntosh-Silver syndrome|<1 / 1 000 000|Unknown|Neonatal|266255 +3273 3273|Synovialosarcoma|Unknown|Not applicable|All ages|300813 +3275 3275|Synspondylism|<1 / 1 000 000|Autosomal recessive|Childhood|272460 +3276 3276|-|-|-|-| +328 328|Congenital Stuart factor deficiency
Stuart-Prower factor deficiency|-|Autosomal recessive|All ages|227600 +3280 3280|Hydromyelia|1-9 / 100 000|Autosomal dominant
or Autosomal recessive
or Not applicable|All ages|186700 +3282 3282|Chaotic atrial tachycardia
MAT|-|Not applicable|Infancy
Neonatal| +3283 3283|JET
Junctional ectopic tachycardia|Unknown|Unknown|Infancy
Neonatal| +3286 3286|Bidirectional tachycardia induced by catecholamine
CPVT
Double tachycardia induced by catecholamines
Malignant paroxysmal ventricular tachycardia
Multifocal ventricular premature beats|1-5 / 10 000|Autosomal dominant
or Autosomal recessive|Childhood|604772 611938 614021 614916 615441 +3287 3287|-|1-9 / 100 000|Not applicable|Adult
Adolescent|207600 +3289 3289|-|-|-|-|272700 +329 329|Hemophilia C
PTA deficiency
Plasma thromboplastin antecedent deficiency
Rosenthal factor deficiency
Rosenthal syndrome|1-9 / 1 000 000|Autosomal dominant
or Autosomal recessive|All ages|612416 +3291 3291|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|272950 +329173 329173|HOIL1 deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615895 +329178 329178|CDG syndrome type Iu
CDG-Iu
CDG1U
CMD with intellectual disability and severe epilepsy
Carbohydrate deficient glycoprotein syndrome type Iu
Congenital disorder of glycosylation type 1u
Congenital disorder of glycosylation type Iu
DPM2-CDG|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615042 +329191 329191|Tall stature-scoliosis-macrodactyly of the halluces syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|615923 +329195 329195|Developmental delay with ASD and gait instability|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615516 +3292 3292|-|<1 / 1 000 000|Unknown|Infancy
Neonatal|211960 +329211 329211|ADNIV|<1 / 1 000 000|Autosomal dominant|All ages|193235 +329217 329217|CSVT|Unknown|-|All ages| +329224 329224|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|615009 +329228 329228|Microcephalic primordial dwarfism, Walsh type|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|615095 +329235 329235|IGSF1 deficiency syndrome
X-linked central congenital hypothyroidism with late-onset macroorchidism|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300888 +329242 329242|Congenital chronic diarrhea with exudative enteropathy|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615863 +329249 329249|-|<1 / 1 000 000|Autosomal dominant|Childhood| +329252 329252|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +329255 329255|-|<1 / 1 000 000|Unknown|Infancy
Neonatal|615057 +329258 329258|CMT2Q|<1 / 1 000 000|Autosomal dominant|Adolescent
Adult|615025 +329284 329284|BPAN
NBIA5
Neurodegeneration with brain iron accumulation type 5
SENDA
Static encephalopathy of childhood with neurdegeneration in adulthood|<1 / 1 000 000|-|Childhood|300894 +3293 3293|-|-|-|-| +329303 329303|PLAN|-|-|-| +329308 329308|FAHN|<1 / 1 000 000|-|Childhood
Adolescent| +329314 329314|Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency|Unknown|Autosomal recessive|Adult|617070 +329319 329319|Familial thrombocytosis with transverse limb defect|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +329324 329324|Cutaneous hemangioma with muscle or bone atrophy|<1 / 1 000 000|Unknown|Infancy
Neonatal| +329329 329329|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +329332 329332|Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614407 +329336 329336|Adult-onset CPEO with mitochondrial myopathy|Unknown|Autosomal dominant
or Mitochondrial inheritance|Adult|616479 +329341 329341|Limbic encephalitis with DPPX antibodies
Limbic encephalitis with dipeptidyl-peptidase 6 antibodies|<1 / 1 000 000|-|Adult| +3294 3294|Hapnes-Boman-Skeie syndrome|-|-|-|187390 +329457 329457|DA5D
Distal arthrogryposis type 5 without ophthalmoparesis
Distal arthrogryposis type 5 without ophthalmoplegia|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615065 +329466 329466|-|<1 / 1 000 000|Autosomal dominant|Adult|615073 +329469 329469|Non-DS-AMKL|Unknown|Not applicable|Childhood| +329475 329475|-|<1 / 1 000 000|Autosomal dominant|Adult| +329478 329478|-|<1 / 1 000 000|Autosomal dominant|Adult| +329481 329481|LPG|Unknown|Autosomal dominant|All ages|611771 +32960 32960|Familial Hibernian fever
TNF receptor 1-associated periodic syndrome
TRAPS syndrome|1-9 / 1 000 000|Autosomal dominant|Childhood
Infancy
Adolescent
Adult|142680 +329802 329802|Dup(5)(p13)
Trisomy 5p13|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal|613174 +329813 329813|Androgenetic/biparental mosaicism
Genome-wide paternal uniparental disomy mosaicism
Mosaic genome-wide paternal UPD|-|-|-| +329874 329874|IGCM|Unknown|-|Adolescent
Adult| +329883 329883|Hypertrophic gastropathy without hypoproteinemia|<1 / 1 000 000|Autosomal dominant|-| +329888 329888|JIIM|-|-|-| +329894 329894|-|-|-|-| +3299 3299|-|-|-|-| +329903 329903|Ig-mediated MPGN
Ig-mediated membranoproliferative glomerulonephritis
Immunoglobulin-mediated MPGN|-|-|-|615008 +329918 329918|C3 glomerulopathy
Non-Ig-mediated MPGN
Non-Ig-mediated membranoproliferative glomerulonephritis
Non-immunoglobulin-mediated MPGN|-|-|-|609814 614809 +329931 329931|-|-|-|-|614809 +329942 329942|Transient neonatal MAD deficiency
Transient neonatal MADD
Transient neonatal glutaric acidemia type 2
Transient neonatal glutaric aciduria type 2|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +329967 329967|-|-|-|-| +329971 329971|-|Unknown|Autosomal dominant|All ages|174900 +329977 329977|Classic appendiceal endocrine tumor
Classic appendix endocrine tumor|Unknown|Not applicable|All ages| +329984 329984|GCC
Goblet cell adenocarcinoid
Goblet cell carcinoid
Goblet cell tumor|Unknown|Not applicable|Adult| +329998 329998|-|-|-|-| +33 33|Isovaleric acid CoA dehydrogenase deficiency|1-9 / 100 000|Autosomal recessive|Infancy
Childhood|243500 +330 330|Congenital Hageman factor deficiency|Unknown|Autosomal recessive|All ages|234000 +330001 330001|ATTRwt amyloidosis
ATTRwt-related amyloidosis
SSA
Senile systemic amyloidosis
Wild type ATTR-related amyloidosis|1-5 / 10 000|Not applicable|Adult| +330009 330009|-|<1 / 1 000 000|-|-| +33001 33001|-|Unknown|Autosomal dominant|All ages|153400 +330012 330012|-|1-9 / 1 000 000|-|-| +330015 330015|Lead intoxication
Plumbism
Saturnism|1-9 / 100 000|Not applicable|Childhood| +330021 330021|Hydrargyria
Mercurialism
Mercury intoxication|1-9 / 100 000|Not applicable|All ages| +330029 330029|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +330032 330032|HbLepore-beta-thalassemia syndrome
Lepore-beta-thalassemia syndrome|Unknown|Autosomal recessive|-| +330041 330041|M hemoglobinopathy|Unknown|Autosomal dominant|-| +330050 330050|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|614388 +330054 330054|Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613076 +330058 330058|-|1-9 / 1 000 000|Not applicable|Childhood| +330061 330061|Familial polymorphous light eruption of American Indians
Hereditary polymorphous light eruption of American Indians
Hutchinson summer prurigo
Hydroa aestivale|Unknown|Multigenic/multifactorial
or Not applicable|Childhood|174770 +330064 330064|Actinic reticuloid
Chronic photosensitivity dermatitis|1-5 / 10 000|Not applicable|Adult| +3301 3301|Zimmer phocomelia|Unknown|Autosomal recessive
or X-linked recessive|Infancy
Neonatal|273395 +330197 330197|Genetic MCA/variable MR
Genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome|-|-|-| +330206 330206|Genetic MCA
Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)|-|-|-| +3303 3303|-|1-5 / 10 000|Autosomal dominant
or Multigenic/multifactorial|Neonatal
Antenatal|187500 +3304 3304|Bindewald-Ulmer-Müller syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|601127 +3305 3305|-|-|-|-| +3306 3306|Inv dup(15)
Isodicentric 15 chromosome
Non-distal tetrasomy 15q
Non-telomeric tetrasomy 15q
idic(15)|-|Not applicable
or Unknown|Neonatal| +33067 33067|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|156400 +33069 33069|DS
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy|Unknown|Autosomal dominant|Infancy
Neonatal|607208 612164 615744 +3307 3307|Isochromosome 18p|1-9 / 1 000 000|-|Neonatal
Antenatal|614290 +3309 3309|Isochromosome 5p|-|-|-| +331 331|Fibrin-stabilizing factor deficiency|<1 / 1 000 000|Autosomal recessive
or Not applicable|All ages|613225 613235 +3310 3310|Isochromosome 9p|-|-|-| +33108 33108|Autosomal recessive lethal multiple pterygium syndrome
LMPS|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|253290 +3311 3311|-|-|-|-|273490 +33110 33110|Agammaglobulinemia, non-Bruton type|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|All ages|601495 612692 613500 613501 613502 613506 615214 616941 +33111 33111|-|<1 / 1 000 000|Not applicable|Adult| +331176 331176|SCN4
Severe congenital neutropenia type 4
Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome|<1 / 1 000 000|Autosomal recessive|-|612541 +331184 331184|-|-|-|-| +331187 331187|-|-|-|-|613791 +331190 331190|-|-|-|-|613860 +331193 331193|-|-|-|-| +3312 3312|Fetal thalidomide syndrome|1-9 / 1 000 000|Not applicable|Antenatal
Neonatal| +331206 331206|SCID due to complete RAG1/2 deficiency|-|-|-|601457 +331217 331217|-|-|-|-| +331220 331220|-|-|-|-| +331223 331223|-|-|-|-| +331226 331226|Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency|-|Autosomal recessive|-|611521 +331232 331232|-|-|-|-| +331235 331235|Selective immunoglobulin M deficiency|-|-|-| +331240 331240|-|-|-|-| +331244 331244|-|-|-|-| +331249 331249|-|-|-|-| +3314 3314|Aseptic necrosis of phalangeal epiphyses
Osteochondritis of phalangeal epiphyses
Osteochondrosis of phalangeal epiphyses|-|-|-|165700 +3315 3315|-|-|-|-| +3316 3316|Potter sequence-cleft lip/palate-cardiopathy syndrome|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal| +3317 3317|Barnes syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|187760 187770 +3318 3318|ET
Essential thrombocytosis|1-5 / 10 000|Multigenic/multifactorial
or Not applicable|All ages|187950 601977 614521 +3319 3319|CAMT
Congenital amegakaryocytic thrombocytopenic purpura|Unknown|Autosomal recessive|Neonatal|604498 +332 332|Congenital pernicious anemia
Gastric intrinsic factor deficiency
Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency
IFD
Intrinsic factor deficiency|<1 / 1 000 000|Autosomal recessive
or Not applicable|Childhood|243320 261000 +3320 3320|TAR syndrome|Unknown|Autosomal recessive|Neonatal
Antenatal|274000 +33208 33208|Primary hypersomnia|1-5 / 10 000|Unknown|All ages| +3322 3322|Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Infancy
Neonatal|305000 613989 613990 615190 616353 616553 +33226 33226|-|1-9 / 100 000|Multigenic/multifactorial|Elderly|153600 610430 +3323 3323|Braddock-Carey syndrome|<1 / 1 000 000|-|Infancy
Neonatal| +3324 3324|-|-|-|-| +3325 3325|HAT
HIT
Heparin-associated thrombocytopenia
Heparin-induced thrombocytopenia type 2|Unknown|Not applicable|All ages| +3326 3326|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|274265 +3327 3327|Cutler-Bass-Romshe syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|274240 +33276 33276|-|1-9 / 100 000|Not applicable|Adult|148000 +3328 3328|Holmes-Collins syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal|601027 +3329 3329|Aplasia of tibia with split-hand/split-foot deformity
SHFLD syndrome
SHFM associated with aplasia of long bones
Split hand/foot malformation with long bone deficiency
Split-hand/foot malformation associated with aplasia of long bones
TH-SHFM
Tibial hemimelia with split hand/foot malformation
Tibial hemimelia-ectrodactyly syndrome|1-9 / 1 000 000|Autosomal dominant|Infancy
Neonatal|119100 610685 612576 +333 333|Acid ceramidase deficiency
Farber lipogranulomatosis|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal
Childhood
Antenatal|228000 +3331 3331|Chitty-Hall-Webb syndrome|<1 / 1 000 000|Unknown|No data available| +33314 33314|Jessner's benign lymphocytic infiltration of the skin
Jessner-Kanof lymphocytic infiltration of the skin|Unknown|Not applicable|Adult| +3332 3332|Werner mesomelic syndrome|Unknown|Autosomal dominant|Infancy
Neonatal|188740 +33355 33355|AK2 deficiency
Congenital aleukocytosis
De Vaal disease
Generalized hematopoietic hypoplasia
SCID with leukopenia
Severe combined immunodeficiency with leukopenia|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|267500 +33364 33364|-|Unknown|Autosomal recessive
or X-linked recessive|Infancy
Neonatal|234050 300953 601675 616390 616395 616943 +3337 3337|Primary Fanconi renotubular syndrome|-|Autosomal dominant
or Autosomal recessive|-|134600 613388 615605 +3338 3338|Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|217980 +3339 3339|Aplasia cutis congenita-epibulbar dermoids syndrome
Oculoectodermal syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|600268 +334 334|-|-|Autosomal dominant|-|607554 608583 608988 611493 611494 611819 612201 612240 613055 613120 613980 614022 614049 614050 615377 615378 615770 +33402 33402|Chidhood-onset HCC
Childhood-onset hepatocellular carcinoma
Pediatric HCC|Unknown|Not applicable|Childhood
Adolescent| +33408 33408|-|Unknown|Autosomal dominant
or Not applicable|Childhood| +3341 3341|-|<1 / 1 000 000|X-linked dominant|Infancy
Neonatal|314300 +3342 3342|ATS|<1 / 1 000 000|Autosomal recessive|Childhood|208050 +3343 3343|-|Unknown|Not applicable|Childhood| +3344 3344|-|-|-|-|112350 +33445 33445|Elejalde disease|<1 / 1 000 000|-|Childhood|256710 +3346 3346|-|<1 / 1 000 000|Not applicable|Neonatal
Antenatal| +3347 3347|Congenital tracheobronchomegaly
Idiopathic tracheobronchomegaly
Tracheobronchomegaly|Unknown|Not applicable|All ages|275300 +33475 33475|-|1-9 / 100 000|Not applicable|-| +3348 3348|Tracheopathia osteoplastica|Unknown|Unknown|Childhood
Adult
Elderly|189961 +335 335|-|1-9 / 1 000 000|Autosomal dominant
or Autosomal recessive|All ages|202400 616004 +3350 3350|Neuhauser-Daly-Magnelli syndrome|-|-|-|190310 +3351 3351|Kersey syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|601453 +3352 3352|TDO syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|190320 +3353 3353|Pinheiro-Freire Maia-Miranda syndrome|-|-|-| +3354 3354|Alves-dos Santos-Castelo syndrome
Ectodermal dysplasia-cataracts-kyphoscoliosis syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|601701 +33543 33543|-|1-9 / 1 000 000|-|Adolescent
Childhood
Adult|148840 +3355 3355|Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|275450 +3357 3357|Trueb-Burg-Bottani syndrome|-|-|-| +33572 33572|Oxoprolinuria due to oxoprolinase deficiency|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy
Childhood|260005 +33573 33573|Glutathionuria|<1 / 1 000 000|Autosomal recessive|Infancy|231950 +33574 33574|Glutamate-cysteine ligase deficiency|<1 / 1 000 000|Autosomal recessive|Infancy|230450 +33577 33577|Idiopathic lobular panniculitis
Idiopathic nodular panniculitis
Pfeiffer-Weber-Christian syndrome
Relapsing febrile nodular nonsuppurative panniculitis
Relapsing febrile nodular panniculitis
WCD
Weber-Christian disease
Weber-Christian panniculitis|Unknown|Not applicable|Adult| +3360 3360|Katsantoni-Papadakou Lagoyanni syndrome|-|-|-| +3361 3361|-|-|-|-|190360 +3363 3363|Long eyelashes-intellectual disability syndrome
Oliver-McFarlane syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|275400 +3365 3365|Hunter-Rudd-Hoffmann syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +3366 3366|Non-syndromic metopic craniosynostosis|-|Autosomal dominant
or Not applicable|Infancy
Neonatal|190440 614485 +3368 3368|-|<1 / 1 000 000|Unknown|Infancy
Neonatal|275595 +3369 3369|Say-Meyer syndrome|<1 / 1 000 000|Unknown|No data available|314320 +337 337|FOP
Myositis ossificans progressiva
Stone man syndrome|<1 / 1 000 000|Autosomal dominant
or Not applicable|Childhood|135100 +3374 3374|-|-|Autosomal dominant|Adolescent| +3375 3375|47,XXX syndrome
Triple X syndrome
Triplo-X syndrome
XXX syndrome|1-5 / 10 000|Not applicable|Infancy
Childhood| +3376 3376|-|Unknown|Not applicable
or Unknown|Neonatal
Antenatal| +3377 3377|Distal arthrogryposis type 7
Dutch-Kentucky syndrome
Hecht syndrome
Hecht-Beals syndrome|Unknown|Autosomal dominant|Infancy
Neonatal|158300 +3378 3378|Patau syndrome|1-9 / 1 000 000|Not applicable
or Unknown|Neonatal
Antenatal| +3379 3379|Distal duplication 17q
Telomeric duplication 17q
Trisomy 17qter|-|-|-| +338 338|-|<1 / 1 000 000|Autosomal dominant|No data available| +3380 3380|Chromosome 18 duplication
Edwards syndrome|1-9 / 1 000 000|Not applicable
or Unknown|Neonatal
Antenatal| +3383 3383|-|-|-|-|191000 +3384 3384|Common aortico-pulmonary trunk
Common arterial trunk
TAC|Unknown|Autosomal recessive
or Not applicable|Infancy
Neonatal|217095 +3385 3385|Sleeping sickness|Unknown|Not applicable|All ages| +3386 3386|Chagas disease|1-9 / 1 000 000|Not applicable|All ages| +3387 3387|Hairy throat syndrome
Tsukahara-Kajii syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Childhood|600457 +3388 3388|-|-|-|-| +3389 3389|-|1-5 / 10 000|Not applicable|All ages|607948 +3390 3390|-|<1 / 1 000 000|Mitochondrial inheritance|-|560000 +3392 3392|-|-|-|All ages| +3394 3394|Malignant mesenchymal tumor
Malignant soft tissue tumor
Soft part sarcoma|1-5 / 10 000|-|-| +3398 3398|TEN
Thymic epithelial tumor|Unknown|Autosomal recessive
or Not applicable|Adult| +3399 3399|-|Unknown|-|-| +340 340|Hantavirosis
Hantavirus fever|-|-|All ages| +3400 3400|-|<1 / 1 000 000|Not applicable|Infancy
Neonatal| +3402 3402|Transient tyrosinemia of the neonate|-|-|-| +3403 3403|-|<1 / 1 000 000|Not applicable|Infancy
Neonatal|107970 +3404 3404|Renal dysplasia-limb defects syndrome
Renal dysplasia-mesomelia-radiohumeral fusion syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|266910 +3405 3405|-|<1 / 1 000 000|Unknown|Infancy
Neonatal| +3406 3406|-|Unknown|Autosomal dominant
or Not applicable|Childhood|604093 +3408 3408|Hip dysplasia-enchondromata-ecchondroma syndrome|<1 / 1 000 000|Autosomal dominant|No data available|191520 +3409 3409|Intellectual disability-short stature-hand contractures-genital anomalies syndrome
Prader-Willi habitus-osteopenia-camptodactyly syndrome|<1 / 1 000 000|-|Infancy|264010 +341 341|-|Unknown|Not applicable|All ages| +3411 3411|Double uterus and obstructed hemivagina syndrome
Herlyn-Werner syndrome
OHVIRA syndrome
Obstructed hemivagina and ipsilateral renal anomaly
Wunderlich syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal|192050 +3412 3412|Sujansky-Leonard syndrome|<1 / 1 000 000|Autosomal recessive
or X-linked recessive|Infancy
Neonatal|276950 314390 +34149 34149|-|1-9 / 1 000 000|Autosomal dominant|Adult|174000 603860 609886 +3416 3416|Van Buchem disease|<1 / 1 000 000|Autosomal recessive
or Autosomal dominant|Childhood
Adolescent|239100 607636 +3417 3417|-|<1 / 1 000 000|X-linked recessive|No data available|314500 +3419 3419|-|-|-|-| +342 342|Benign paroxysmal peritonitis
Benign recurrent polyserositis
FMF
Familial paroxysmal polyserositis
Periodic disease|1-5 / 10 000|Autosomal recessive|Infancy
Childhood
Adolescent
Adult|134610 249100 +3421 3421|CRV
Grand-Kaine-Fulling syndrome|<1 / 1 000 000|Autosomal dominant|Adult|192315 +34217 34217|KWWH type I
Keratoderma with woolly hair type I
Keratosis palmoplantaris with arrythmogenic cardiomyopathy
Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy
Palmoplantar keratoderma with arrythmogenic cardiomyopathy|-|Autosomal recessive|Infancy
Neonatal|601214 +3424 3424|-|-|-|-|600736 +3426 3426|DORV|1-5 / 10 000|Multigenic/multifactorial|Infancy
Neonatal|217095 +3427 3427|DOLV|<1 / 1 000 000|Not applicable|Infancy
Neonatal| +3429 3429|Cleft-limb-heart malformation syndrome syndrome|-|-|-|215850 +343 343|HIDS
Hyper-IgD syndrome
Hyperimmunoglobinemia D with recurrent fever
Hyperimmunoglobulinemia D syndrome
Partial mevalonate kinase deficiency|Unknown|Autosomal recessive|Infancy|260920 +3433 3433|Viljoen-Kallis-Voges syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +3434 3434|MCOPS8
Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome
Syndromic microphthalmia type 8
Viljoen-Smart syndrome|Unknown|-|Infancy
Neonatal|601349 +3437 3437|Uveomenigitic syndrome|Unknown|Multigenic/multifactorial|All ages| +3439 3439|DK phocomelia syndrome
Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|223340 +344 344|-|Unknown|Not applicable|All ages| +3440 3440|-|1-9 / 100 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|148820 193500 193510 600193 606662 608890 611584 +3447 3447|Camptodactyly-overgrowth-unusual facies syndrome|<1 / 1 000 000|Autosomal dominant
or Not applicable|Neonatal
Antenatal|277590 +3448 3448|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +3449 3449|Spherophakia-brachymorphia syndrome|1-9 / 100 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|277600 608328 614819 +345 345|-|Unknown|Not applicable|Adult|260910 +3450 3450|Heterozygous OSMED
Heterozygous otospondylomegaepiphyseal dysplasia
Pierre Robin sequence-fetal chondrodysplasia syndrome
Pierre Robin syndrome-fetal chondrodysplasia syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|277610 +3451 3451|Infantile spasms
Intellectual disability-hypsarrhythmia syndrome|1-9 / 100 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Infancy
Neonatal
Childhood|300672 308350 613477 613722 615006 616139 616341 617065 +34514 34514|LGMD2G
Limb-girdle muscular dystrophy due to telethonin deficiency|<1 / 1 000 000|Autosomal recessive|Childhood
Adolescent
Infancy|601954 +34515 34515|LGMD2I
Limb-girdle muscular dystrophy due to FKRP deficiency|1-9 / 100 000|Autosomal recessive|Childhood
Adolescent
Adult
Infancy|607155 +34516 34516|LGMD1D|<1 / 1 000 000|Autosomal dominant|Adult|603511 +34517 34517|LGMD1E|<1 / 1 000 000|Autosomal dominant|Adult| +3452 3452|Intestinal lipodystrophy
Intestinal lipophagic granulomatosis
Secondary non-tropical sprue|Unknown|Not applicable|All ages| +34520 34520|Congenital muscular dystrophy with ITGA7 deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613204 +34521 34521|-|<1 / 1 000 000|Autosomal dominant|Adult|607569 +34526 34526|-|Unknown|Autosomal dominant
or Autosomal recessive|Childhood
Adolescent
Adult| +34527 34527|-|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Childhood
Adolescent|611718 613882 616418 +34528 34528|HOMG2
Isolated autosomal dominant hypomagnesemia
Isolated renal magnesium wasting
Renal hypomagnesemia type 2|<1 / 1 000 000|Autosomal dominant|All ages|154020 +3453 3453|APECED syndrome
APS type 1
APS1
Autoimmune hypoparathyroidism-chronic candidiasis-Addison's disease syndrome
Autoimmune polyendocrine syndrome type 1
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
Autoimmune polyglandular syndrome type 1
HAM syndrome
Hypoparathyroidism-Addison's disease-mucocutaneous candidiasis syndrome
MEDAC syndrome
Multiple endocrine deficiency-Addison's disease-candidiasis syndrome|1-9 / 1 000 000|Autosomal recessive|Childhood|240300 +34533 34533|-|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive
or Mitochondrial inheritance
or Not applicable|All ages| +3454 3454|Foot contractures-muscle atrophy-oculomotor apraxia syndrome
Wieacker-Wolff syndrome|<1 / 1 000 000|X-linked recessive
or Not applicable|Neonatal|314580 +3455 3455|Neonatal progeroid syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|264090 +3456 3456|Cervico-oculo-acoustic syndrome|<1 / 1 000 000|-|Infancy
Neonatal|314600 +34587 34587|Danon disease
GSD due to LAMP-2 deficiency
Glycogenosis due to LAMP-2 deficiency
Lysosomal glycogen storage disease with normal acid maltase activity|<1 / 1 000 000|X-linked recessive|Childhood|300257 +3459 3459|WTS
X-linked intellectual disability-gynecomastia-obesity syndrome|<1 / 1 000 000|X-linked recessive
or X-linked dominant|Childhood|309585 +34592 34592|Bare lymphocyte syndrome type 1|-|Autosomal recessive|Childhood|604571 +346 346|-|Unknown|Not applicable|Adult| +3460 3460|Winchester syndrome|<1 / 1 000 000|-|Childhood|259600 277950 +3463 3463|DIDMOAD syndrome
Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome|1-9 / 1 000 000|Autosomal recessive|Childhood
Adolescent
Adult|222300 598500 604928 +3464 3464|Diabetes-hypogonadism-deafness-intellectual disability syndrome|<1 / 1 000 000|Autosomal recessive|Adolescent|241080 +3465 3465|Congenital suprabulbar paresis|1-9 / 100 000|Autosomal dominant
or Not applicable|Childhood|185480 +3466 3466|-|<1 / 1 000 000|Autosomal dominant|Childhood|194350 +3467 3467|Classic xanthinuria
Xanthic urolithiasis
Xanthine stone disease|Unknown|Autosomal recessive|All ages|278300 603592 +3469 3469|Atelencephaly
Garcia-Lurie syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|207770 +347 347|-|<1 / 1 000 000|Autosomal dominant|Childhood|136680 +3471 3471|Azoospermia-sinopulmonary infections syndrome|Unknown|Autosomal recessive|Adult|279000 +3472 3472|Cleidocranial dysplasia-micrognathia-absent thumbs syndrome|<1 / 1 000 000|Autosomal recessive|-|216340 +3473 3473|Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal|135500 616455 +3474 3474|Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
Congenital disorder of glycosylation due to PIGL deficiency
Neuroectodermal dysplasia, CHIME type
Neuroectodermal syndrome, Zunich type
PIGL-CDG
Zunich-Kaye syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|280000 +348 348|-|Unknown|Autosomal recessive|All ages|229700 +349 349|Alpha-L-fucosidase deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood|230000 +35 35|Ketotic hyperglycinemia
Propionic aciduria
Propionyl-CoA carboxylase deficiency|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal|606054 +35061 35061|-|-|-|-| +35062 35062|Idiopathic disseminated CMV infection|-|-|-| +35063 35063|-|-|-|-| +35064 35064|-|-|-|-| +35065 35065|-|-|-|-| +35069 35069|INAD
INAD1
PLAN
Phospholipase A2-associated neurodegeneration
Seitelberger disease|Unknown|Autosomal recessive|Infancy
Neonatal|256600 610217 +35078 35078|T-B+ SCID due to JAK3 deficiency|Unknown|Autosomal recessive|Infancy
Neonatal|600802 +35093 35093|Isolated dolichocephaly
Non-syndromic sagittal synostosis|-|Autosomal dominant
or Not applicable|Infancy
Neonatal|123100 600775 615529 +35098 35098|Non-syndromic unicoronal synostosis
Synostotic plagiocephaly|-|Autosomal dominant
or Not applicable|Infancy
Neonatal|123100 615314 616602 +35099 35099|Non-syndromic bicoronal synostosis|-|Autosomal dominant
or Not applicable|Infancy
Neonatal|123100 615314 616602 +351 351|Goldberg syndrome
Neuraminidase deficiency with beta-galactosidase deficiency|Unknown|Autosomal recessive|All ages|256540 +35107 35107|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal
Antenatal|602398 +35120 35120|P5N deficiency
UMPH1 deficiency
Uridine 5'-monophosphate hydrolase deficiency|-|Autosomal recessive|Infancy
Neonatal|266120 +35121 35121|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|200950 +35122 35122|CSID
Congenital sucrase-isomaltose malabsorption
Congenital sucrose intolerance
Disaccharide intolerance|1-5 / 10 000|Autosomal recessive|Childhood|222900 +35125 35125|Epidermal hamartoma syndrome|Unknown|Not applicable|Infancy
Neonatal| +35173 35173|CDPX2
CDPXD
CPXD
Chondrodystrophia calcificans congenita
Conradi-Hünermann-Happle syndrome
X-linked chondrodysplasia punctata type 2|1-9 / 1 000 000|X-linked dominant|Infancy
Neonatal|302960 +352 352|-|Unknown|Autosomal recessive|Infancy
Neonatal
Childhood|230200 230350 230400 +352298 352298|-|-|-|-| +352301 352301|-|-|-|-| +352306 352306|-|-|-|-| +352309 352309|-|-|-|-| +352312 352312|-|-|-|-| +352328 352328|3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614739 +352333 352333|Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614457 +352403 352403|Autosomal recessive cerebellar ataxia-cognitive defect syndrome
Autosomal recessive spinocerebellar ataxia type 14
SCAR14
SPARCA
SPARCA1
Spectrin-associated autosomal recessive cerebellar ataxia type 1|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615386 +352447 352447|Mitochondrial DNA maintenance syndrome due to MGME1 deficiency
PEO-myopathy-emaciation syndrome
mtDNA maintenance syndrome due to MGME1 deficiency|<1 / 1 000 000|Autosomal recessive|All ages|615084 +352456 352456|mtDNA maintenance syndrome|-|-|-| +352470 352470|Mitochondrial DNA deletion syndrome with limb-girdle weakness
mtDNA deletion syndrome with limb-girdle weakness
mtDNA deletion syndrome with progressive myopathy|<1 / 1 000 000|Autosomal dominant|All ages|615156 +352479 352479|Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
LGMD2U|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|616052 +352487 352487|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal| +352490 352490|ASD due to AUTS2 deficiency
AUTS2 syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|615834 +352530 352530|Autosomal recessive intellectual disability due to TRAPPC9 deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +352540 352540|Oncogenic hypophosphatemic osteomalacia
TIO
Tumor-induced osteomalacia|Unknown|Not applicable|All ages| +352563 352563|COXPD16
Combined oxidative phosphorylation defect type 16|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615395 +352577 352577|Bainbridge-Roppers syndrome|<1 / 1 000 000|Not applicable|Infancy
Neonatal|615485 +352582 352582|FIME
Familial infantile myoclonus epilepsy|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|605021 +352587 352587|Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +352596 352596|PMED
Progressive myoclonus epilepsy with dystonia|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615338 +352629 352629|Del(16)(q24.1)
Monosomy 16q24.1|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal| +352636 352636|Phalangeal osteolysis|<1 / 1 000 000|Not applicable|Childhood| +352641 352641|Autosomal recessive cerebellar ataxia due to GBA2 deficiency|<1 / 1 000 000|Autosomal recessive|Childhood| +352649 352649|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +352654 352654|-|<1 / 1 000 000|Autosomal recessive|Childhood|615491 +352657 352657|HBID
Hereditary benign corneal intraepithelial dyskeratosis|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|127600 +352662 352662|-|<1 / 1 000 000|Autosomal dominant|All ages|615225 +352665 352665|9q21 microdeletion syndrome
Del(9)(q21)|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal| +352670 352670|CMTDIF|<1 / 1 000 000|Autosomal dominant|All ages|615185 +352675 352675|CMT6X
CMTX6|<1 / 1 000 000|X-linked dominant|Childhood|300905 +352682 352682|Cobblestone lissencephaly without muscular or eye involvement
Lissencephaly type 2 without muscular or eye involvement
Lissencephaly type 2 without muscular or ocular involvement|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615191 +352687 352687|Lissencephaly type 2 with muscular and ocular involvement
MDDGA|-|-|-| +352709 352709|-|<1 / 1 000 000|Autosomal recessive|Adult|615362 +352712 352712|FILS syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615139 +352718 352718|Retinol dystrophy-iris coloboma-comedogenic acne syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|615147 +352723 352723|Atypical Chédiak-Higashi syndrome|<1 / 1 000 000|Autosomal recessive|Childhood| +352728 352728|-|-|-|-| +352731 352731|OCA1|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal|203100 606952 +352734 352734|MP OCA type 1
OCA1-MP|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +352737 352737|OCA1-TS
TS OCA type 1|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|606952 +352740 352740|Waardenburg syndrome type 2 with ocular albinism|<1 / 1 000 000|-|Infancy
Neonatal|103470 +352745 352745|OCA7|<1 / 1 000 000|Autosomal recessive|-|615179 +352763 352763|Buschke scleredema|Unknown|Not applicable|Infancy
Childhood
Adolescent
Adult| +353 353|Gamma-sarcoglycanopathy
LGMD2C
Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency|1-9 / 1 000 000|Autosomal recessive|Childhood|253700 +353217 353217|Mitochondrial aspartate-glutamate carrier 1 deficiency|-|-|-|612949 +353220 353220|FPLCA|Unknown|Autosomal dominant|All ages|105250 613955 +353253 353253|BMS
Oral dysesthesia
Orodynia
Stomatodynia
Stomatopyrosis|-|-|-| +353277 353277|-|-|-|-|180849 +353281 353281|-|-|-|-|610543 +353284 353284|-|-|-|-|613684 +353298 353298|Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|<1 / 1 000 000|X-linked recessive
or Autosomal recessive|Infancy
Neonatal|300258 616651 +353308 353308|Pyruvate carboxylase deficiency type A|Unknown|Autosomal recessive|Infancy| +353314 353314|Pyruvate carboxylase deficiency type B|Unknown|Autosomal recessive|Infancy
Neonatal| +353320 353320|Pyruvate carboxylase deficiency type C|<1 / 1 000 000|Autosomal recessive|Infancy| +353327 353327|-|Unknown|Autosomal recessive|Infancy
Neonatal|610542 614750 616227 616228 +353334 353334|Congenital arteriovenous anastomoses of the retina
Congenital arteriovenous communication of the retina
Congenital retinal arteriovenous anastomoses|<1 / 1 000 000|-|Infancy
Neonatal| +353344 353344|Aneurysmal telangiectasia
Visible and exudative idiopathic juxtafoveolar retinal telangiectasis|-|-|-| +353351 353351|Occlusive idiopathic juxtafoveolar retinal telangiectasis|-|-|-| +353356 353356|Retinal vasoproliferative tumor
VPTR
Vasoproliferative tumor of ocular fundus|-|-|-| +354 354|Beta-galactosidase-1 deficiency
GLB1 deficiency
Landing disease|Unknown|Autosomal recessive|Childhood|230500 230600 230650 +355 355|Acid beta-glucosidase deficiency
Glucocerebrosidase deficiency|1-9 / 100 000|Autosomal recessive|All ages|230800 230900 231000 231005 608013 610539 +356 356|Subacute spongiform encephalopathy, Gerstmann-Straussler type|Unknown|Autosomal dominant
or Not applicable|Adult|137440 +35612 35612|-|Unknown|Autosomal dominant
or Autosomal recessive
or Not applicable|Infancy
Neonatal|600165 609549 611897 615972 +35656 35656|CoQ10 deficiency|Unknown|Autosomal recessive|All ages| +35664 35664|Delta-1-pyrroline 5-carboxylate synthetase deficiency
Neurocutaneous syndrome, Bicknell type
P5CS deficiency|<1 / 1 000 000|Autosomal recessive
or Not applicable|Infancy
Neonatal|219150 +35686 35686|Geographic helicoid peripapillary choroidopathy|-|-|-| +35687 35687|-|Unknown|Not applicable|Adult| +35688 35688|-|Unknown|Multigenic/multifactorial|Childhood|127300 +35689 35689|Adult-onset PLS
Adult-onset primary lateral sclerosis
PLS|1-9 / 100 000|Not applicable
or Autosomal recessive
or Autosomal dominant|Elderly
Adult|611637 +356947 356947|3q26-q27microdeletion syndrome
Del(3)(q26q27)
Monosomy 3q26-q27
Monosomy 3q26q27|<1 / 1 000 000|-|Infancy
Neonatal| +35696 35696|COXPD
Combined OXPHOS defect
Combined OXPHOS deficiency
Combined oxidative phosphorylation defect|-|-|-| +356961 356961|CDG syndrome type IIm
CDG-IIm
CDG2M
Congenital disorder of glycosylation type 2m
Congenital disorder of glycosylation type IIm|<1 / 1 000 000|Unknown|Infancy
Neonatal|300896 +356978 356978|Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
D,L-2-HGA
D,L-2-hydroxyglutaric acidemia|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615182 +35698 35698|mtDNA depletion syndrome|Unknown|-|All ages| +356996 356996|-|<1 / 1 000 000|Autosomal recessive|Childhood|615493 +357001 357001|Del(19)(p13.13)
Monosomy 19p13.13|<1 / 1 000 000|Unknown|Infancy
Neonatal|613638 +357008 357008|Atypical HUS with DGKE deficiency
D-HUS with DGKE deficiency
Hemolytic-uremic syndrome without diarrhea with DGKE deficiency
aHUS with DGKE deficiency|<1 / 1 000 000|Autosomal recessive
or Not applicable|Infancy
Neonatal|615008 +35701 35701|HMG-CoA synthase deficiency|<1 / 1 000 000|Autosomal recessive|Childhood|605911 +357027 357027|-|Unknown|Autosomal dominant|Infancy
Neonatal| +357034 357034|-|Unknown|Not applicable|Infancy
Neonatal| +35704 35704|AGAT deficiency|<1 / 1 000 000|Autosomal recessive|Infancy|612718 +357043 357043|ALS4
Distal hereditary motor neuropathy with upper motor neuron signs
dHMN with upper motor neuron signs|<1 / 1 000 000|Autosomal dominant|All ages|602433 +35705 35705|Serine deficiency|<1 / 1 000 000|-|Infancy
Neonatal| +357058 357058|ARCL2A|-|-|-|219200 278250 +35706 35706|Glutaric aciduria type 3
Glutaryl-CoA oxidase deficiency|Unknown|Autosomal recessive|All ages|231690 +357064 357064|ARCL2, progeroid type
ARCL2B
Autosomal recessive cutis laxa type 2, progeroid type|-|-|-|612940 +357074 357074|ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type|-|-|-|219200 +35708 35708|AADC deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|608643 +35710 35710|SGLT1 deficiency|Unknown|Autosomal recessive|Infancy
Neonatal|606824 +357107 357107|ATOS
Arterial TOS
Arterial cervical rib syndrome
Arterial costoclavicular syndrome
Arterial hyperabduction syndrome
Arterial scalenus anticus syndrome
Arterial thoracic outlet compression syndrome|-|-|-| +357131 357131|Effort subclavian vein thrombosis
Paget-Schrotter disease
VTOS
Venous TOS
Venous cervical rib syndrome
Venous costoclavicular syndrome
Venous hyperabduction syndrome
Venous scalenus anticus syndrome
Venous thoracic outlet compression syndrome|-|-|-| +357154 357154|OSMF|Unknown|-|All ages| +357158 357158|Macroblepharon-ectropion-hypertelorism-macrostomia syndrome|<1 / 1 000 000|-|Infancy
Neonatal|602562 +357175 357175|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615162 +357191 357191|-|-|-|-| +357194 357194|-|-|-|-| +357220 357220|-|-|-|-| +357225 357225|-|-|-|-| +357237 357237|SCID due to CARD11 deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615206 +357329 357329|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615207 +357332 357332|Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome
Wahab syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615170 +35737 35737|Ectasic coloboma
Volubilis syndrome|Unknown|Autosomal dominant|Childhood|120430 +357502 357502|-|Unknown|-|All ages| +357506 357506|-|-|-|-| +358 358|Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria|1-9 / 100 000|Autosomal recessive|Childhood|263800 +35807 35807|MOGCT
Malignant ovarian germ cell tumor
Ovarian germ cell cancer|Unknown|Unknown|Infancy
Childhood
Adolescent
Adult
Elderly|603737 +35808 35808|Malignant ovarian SCST
Malignant ovarian sex cord-stromal tumor|1-9 / 100 000|Not applicable|All ages| +35858 35858|Familial megaloblastic anemia
Selective cobalamin malabsorption with proteinuria|Unknown|Autosomal recessive|Childhood|261100 +35878 35878|HI/HA syndrome|Unknown|Autosomal dominant|Infancy
Neonatal|606762 +35889 35889|-|Unknown|Not applicable|All ages| +359 359|-|Unknown|Autosomal dominant
or Autosomal recessive|Childhood| +35909 35909|F5F8D
FV and FVIII combined deficiency
Familial multiple coagulation factor deficiency|1-9 / 1 000 000|Autosomal recessive|All ages|227300 227310 613625 +35981 35981|-|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked dominant
or Not applicable|Childhood| +36 36|ACS|<1 / 1 000 000|-|Neonatal|200990 +360 360|GBM
Glioblastoma multiforme|1-9 / 100 000|Multigenic/multifactorial
or Not applicable|All ages|137800 613029 +361 361|-|<1 / 1 000 000|Autosomal recessive|Childhood|202200 202355 607398 609197 614736 +36204 36204|-|Unknown|Not applicable|All ages| +36234 36234|Bacterial TSS|1-9 / 100 000|Not applicable|All ages| +36235 36235|-|-|-|-| +36236 36236|Generalized exfoliative disease
SSSS|Unknown|-|All ages| +36237 36237|-|Unknown|Not applicable|All ages| +36238 36238|-|Unknown|-|Childhood| +36258 36258|Thromboangiitis obliterans|1-5 / 10 000|-|Adult|211480 +36273 36273|Borrmann gastric cancer type 4
Linitis plastica of the stomach|Unknown|-|Adult| +363189 363189|-|-|-|-| +363203 363203|-|-|-|-| +363245 363245|-|-|-|-| +363250 363250|-|-|-|-| +363266 363266|-|-|-|-| +363294 363294|-|-|-|-| +363300 363300|IDI|-|-|-| +363306 363306|-|-|-|-| +363314 363314|Familial intestinal polyposis|-|-|-| +363396 363396|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|221200 +363400 363400|Severe neurodegenerative syndrome due to BSCL2 deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615924 +363409 363409|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615368 +363412 363412|HBSL|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615281 +363417 363417|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|605282 +363424 363424|IBA57 deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615330 +363429 363429|-|-|-|-|614831 616204 +363432 363432|Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency
SCAR18|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|616204 +363444 363444|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613680 +363447 363447|Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy
SMALED|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|158600 615290 +363454 363454|Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures
SMALED2|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|615290 +363472 363472|Testicular and paratesticular tumor|Unknown|-|-| +363478 363478|Adenocarcinoma of paratestis|<1 / 1 000 000|-|-| +363483 363483|Teratoma of the testis|<1 / 1 000 000|-|-|273300 +363489 363489|Testicular sex cord-stromal tumor|-|-|-| +363494 363494|Non-dysgerminomatous germ cell tumor of testis
Testicular non seminomatous germ cell tumor
Testicular non-dysgerminomatous germ cell tumor|-|-|-|273300 +363504 363504|Testicular germ cell tumor|-|-|-|273300 +363523 363523|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615328 +363528 363528|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615286 +363534 363534|mtDNA depletion syndrome, hepatocerebrorenal form|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +363540 363540|-|<1 / 1 000 000|Autosomal recessive|All ages|615651 +363543 363543|Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
LGMD2R|<1 / 1 000 000|Autosomal recessive|Adolescent
Adult|615325 +363549 363549|AESD
AIEF
Acute infantile encephalopathy predominantly affecting the frontal lobes|Unknown|-|Infancy
Neonatal| +36355 36355|ADP platelet receptor P2Y12 defect|<1 / 1 000 000|Autosomal recessive|Childhood|609821 +363558 363558|NORSE|<1 / 1 000 000|-|Adult| +363567 363567|-|Unknown|-|All ages| +363579 363579|-|-|-|-| +363582 363582|-|-|-|-| +363611 363611|-|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal|615502 +363618 363618|LCPS|<1 / 1 000 000|Autosomal dominant|Childhood| +363623 363623|LGMD2T|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615352 +363649 363649|MDP syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|615381 +363654 363654|XPDS|<1 / 1 000 000|X-linked recessive|Adolescent
Adult|300911 +363659 363659|Dup(20)(q11.2)|Unknown|-|-| +363665 363665|Premature aging syndrome, Penttinen type|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|601812 +36367 36367|Distal deletion 1q
Monosomy 1qter
Telomeric deletion 1q|-|-|-|612337 +363677 363677|-|<1 / 1 000 000|Autosomal recessive|Childhood|605637 +363680 363680|Del(2)(p13.2)|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +363686 363686|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|615074 +363694 363694|HUPRA syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613845 +363700 363700|Von Recklinghausen disease due to NF1 mutation or intragenic deletion|-|-|-|162200 +363705 363705|Cantu craniofaciofrontodigital syndrome|-|-|-|114620 +363710 363710|SCA37
Spinocerebellar ataxia with altered vertical eye movements|<1 / 1 000 000|Autosomal dominant|Adult|615945 +363717 363717|AxD type I|Unknown|Not applicable|Infancy
Neonatal| +363722 363722|AxD type II|Unknown|Autosomal dominant|Adolescent
Childhood
Adult| +363727 363727|-|<1 / 1 000 000|X-linked recessive|All ages|300835 +363741 363741|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|601794 +363746 363746|Balint-Holmes syndrome
Optic ataxia-gaze apraxia-simultanagnosia syndrome|Unknown|Not applicable|All ages| +36382 36382|Familial CAD
Hereditary CAD
Hereditary cervical artery dissection|-|-|-| +36383 36383|Brain small vessel disease with hemorrhage
Retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome|-|Autosomal dominant|-|607595 +36386 36386|-|Unknown|Autosomal dominant|All ages|162400 613640 613708 615632 +36387 36387|GEFS+|Unknown|Autosomal dominant|Childhood|604233 604403 609800 611277 612279 613060 613828 613863 616172 +36388 36388|PCD
PNS
Paraneoplastic cerebellar degeneration|Unknown|Not applicable|All ages| +363958 363958|Del(17)(q21.31)
Monosomy 17q21.31|1-9 / 100 000|-|Infancy
Neonatal| +363965 363965|-|<1 / 1 000 000|-|-| +363969 363969|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +36397 36397|Adiposalgia
Adipose tissue rheumatism
Dercum's disease
Lipomatosis dolorosa
Neurolipomatosis|Unknown|Autosomal dominant
or Not applicable|Adult|103200 +363972 363972|CBL syndrome
Noonan syndrome-like disorder with JMML|-|Autosomal dominant|-|613563 +363976 363976|GCT of bone|-|-|-| +363981 363981|CMT4B3
Charcot-Marie-Tooth disease with focally folded myelin|<1 / 1 000 000|Autosomal recessive|Childhood|615284 +363989 363989|-|-|Autosomal recessive|-|228980 +363992 363992|15q26.3 microdeletion syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613195 +363999 363999|Non-immune HF
Non-immune fetal edema
Non-immune fetal hydrops|Unknown|Not applicable|Neonatal
Antenatal|236750 +364 364|G6P deficiency
GSD due to G6P deficiency
GSD type 1
GSD type I
Glycogen storage disease due to G6P deficiency
Glycogen storage disease type 1
Glycogen storage disease type I
Glycogenosis type 1
Glycogenosis type I
Hepatorenal glycogenosis
Von Gierke disease|Unknown|Autosomal recessive|Infancy
Neonatal|232200 232220 232240 +364013 364013|IHF
Immune HF
Immune fetal edema
Immune fetal hydrops|Unknown|Not applicable|Antenatal
Neonatal| +364028 364028|-|-|-|-|300699 +364033 364033|Systemic EBV+ T-cell LPD of childhood
Systemic EBV-positive T-cell lymphoproliferative disease of childhood|Unknown|Not applicable|Childhood| +364039 364039|-|-|Not applicable|Childhood| +364043 364043|ALK+ LBCL
ALK+ large B-cell lymphoma|-|Not applicable
or Multigenic/multifactorial|-| +364055 364055|EOSRD
Early-onset severe retinal dystrophy
SECORD|-|Autosomal recessive|Childhood| +364063 364063|-|-|X-linked recessive|Infancy
Neonatal|308350 +36412 36412|Anti-C1q vasculitis
Mac Duffie hypocomplementemic urticarial vasculitis
Mac Duffie syndrome
McDuffie hypocomplementemic urticarial vasculitis
McDuffie syndrome|Unknown|Multigenic/multifactorial
or Not applicable|All ages| +364195 364195|-|-|-|-| +364198 364198|-|-|Not applicable|-| +36426 36426|Dermatostomatitis, Stevens Johnson type|Unknown|Not applicable|All ages|608579 +364526 364526|Primary osteodysplasia
Primary skeletal dysplasia|-|-|-| +364531 364531|Primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments|-|-|-| +364536 364536|Primary osteodysplasia with micromelia
Primary skeletal dysplasia with micromelia|-|-|-| +364541 364541|OPD spectrum disorder
OPSD|-|-|-| +364559 364559|-|-|-|-| +364568 364568|-|-|-|-| +364571 364571|-|-|-|-| +364574 364574|-|-|-|-| +364577 364577|-|-|-|-|608670 +364803 364803|-|-|-|-| +364817 364817|-|-|-|-| +364820 364820|-|-|-|-| +365 365|Alpha-1,4-glucosidase acid deficiency
GSD due to acid maltase deficiency
GSD type 2
GSD type II
Glycogen storage disease type 2
Glycogen storage disease type II
Glycogenosis due to acid maltase deficiency
Glycogenosis type 2
Glycogenosis type II
Pompe disease|Unknown|Autosomal recessive|Antenatal
Neonatal
Infancy
Childhood
Adolescent
Adult|232300 +365563 365563|-|-|-|-| +366 366|Amylo-1,6-glucosidase deficiency
Cori disease
Cori-Forbes disease
Forbes disease
GDE deficiency
GSD due to glycogen debranching enzyme deficiency
GSD type 3
GSDIII
Glycogen storage disease type 3
Glycogen storage disease type III
Glycogenosis due to glycogen debranching enzyme deficiency
Glycogenosis type 3
Glycogenosis type III
Limit dextrinosis|Unknown|Autosomal recessive|Childhood|232400 +367 367|Amylopectinosis
Andersen disease
GSD due to glycogen branching enzyme deficiency
GSD type 4
GSD type IV
Glycogen storage disease type 4
Glycogen storage disease type IV
Glycogenosis due to glycogen branching enzyme deficiency
Glycogenosis type 4
Glycogenosis type IV|Unknown|Autosomal recessive|Antenatal
Neonatal
Infancy
Childhood
Adolescent
Adult|232500 263570 +368 368|GSD due to muscle glycogen phosphorylase deficiency
GSD type 5
GSD type V
Glycogen storage disease type 5
Glycogen storage disease type V
Glycogenosis due to muscle glycogen phosphorylase deficiency
Glycogenosis type 5
Glycogenosis type V
McArdle disease
Myophosphorylase deficiency|Unknown|Autosomal recessive|Infancy
Childhood|232600 +36899 36899|Alcohol-responsive dystonia
Hereditary essential myoclonus
Myoclonic dystonia|1-9 / 1 000 000|Autosomal dominant
or Not applicable|Childhood
Adolescent
Adult|159900 +369 369|GSD due to liver glycogen phosphorylase deficiency
GSD type 6
GSD type VI
Glycogen storage disease type 6
Glycogen storage disease type VI
Glycogenosis due to liver glycogen phosphorylase deficiency
Glycogenosis type 6
Glycogenosis type VI
Hepatic glycogen phosphorylase deficiency
Hepatic phosphorylase deficiency
Hers disease
Liver glycogen phosphorylase deficiency|Unknown|Autosomal recessive|Childhood|232700 +36913 36913|-|-|-|-| +369837 369837|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615398 +369840 369840|LGMD2S|<1 / 1 000 000|Autosomal recessive|Childhood|615356 +369847 369847|-|<1 / 1 000 000|Autosomal recessive|Childhood| +369852 369852|Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
VPS45 deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615285 +369861 369861|SIFD syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|616084 +369867 369867|RI-CMT type C|<1 / 1 000 000|Autosomal recessive|All ages
Childhood
Adult|615376 +369873 369873|-|Unknown|Autosomal recessive|Infancy
Neonatal| +369881 369881|Del(2)(p21) without cystinuria|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +369886 369886|2p21 contiguous gene deletion syndrome|Unknown|-|-| +369891 369891|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|616789 +369894 369894|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615476 +369897 369897|mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615471 +369913 369913|COXPD17|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615440 +369920 369920|PCH9|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615809 +369929 369929|APA with seizures and neurological abnormalities
Aldosterone-secreting adenoma with seizures and neurological abnormalities
Conn adenoma with seizures and neurological abnormalities|<1 / 1 000 000|Not applicable|Infancy
Neonatal|615474 +369939 369939|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|300475 +369942 369942|Contiguous ABCD1 DXS1357E deletion syndrome
Zellweger-like contiguous gene deletion syndrome|<1 / 1 000 000|Not applicable|Infancy
Neonatal|300475 +369950 369950|Der(8)t(8;12)|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal| +369955 369955|CblJ defects
Cobalamin J defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ
Methylmalonic aciduria with homocystinuria, type cblJ|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614857 +369962 369962|Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
Methylmalonic aciduria with homocystinuria, type cblX|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|309541 +369970 369970|MMCAT syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|615458 +369979 369979|-|<1 / 1 000 000|-|Infancy
Neonatal| +369992 369992|Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome
SAM syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615508 +369999 369999|-|Unknown|Autosomal dominant|Infancy
Neonatal|148700 +37 37|AE
AEZ
Inherited zinc deficiency|Unknown|Autosomal recessive|Infancy
Neonatal|201100 +370 370|GSD due to phosphorylase kinase deficiency
GSD type 9
GSD type IX
Glycogen storage disease due to PhK deficiency
Glycogen storage disease type 9
Glycogen storage disease type IX
Glycogenosis due to phosphorylase kinase deficiency
Glycogenosis type 9
Glycogenosis type IX
Gycogenosis due to PhK deficiency|1-9 / 100 000|Autosomal recessive
or X-linked recessive|All ages| +370002 370002|-|Unknown|Autosomal dominant|Infancy
Neonatal|148700 +370010 370010|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +370015 370015|-|<1 / 1 000 000|-|Infancy
Neonatal| +370019 370019|-|<1 / 1 000 000|-|Infancy
Neonatal| +370022 370022|Poretti-Boltshauser syndrome|<1 / 1 000 000|-|Infancy
Neonatal|615960 +370026 370026|AML with t(8;16)(p11;p13) translocation|Unknown|-|-| +370034 370034|-|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal| +370039 370039|Schauder syndrome|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal| +370046 370046|Aplasia cutis congenita-nevus sebaceus syndrome|<1 / 1 000 000|Not applicable|-| +370052 370052|Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome
Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome|<1 / 1 000 000|Not applicable|-| +370059 370059|Nevus epidermicus verrucosus with angiodysplasia and aneurysms|-|-|-| +370068 370068|FACS
Fetal AEDS
Fetal antiepileptic drug syndrome|-|-|-| +370076 370076|-|Unknown|Not applicable|-| +370079 370079|Proximal dup(16)(p11.2)
Proximal trisomy 16p11.2|-|-|-|614671 +370088 370088|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615438 +370091 370091|OCA5|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615312 +370097 370097|OCA6|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|113750 +370103 370103|-|<1 / 1 000 000|-|Adolescent
Adult|612406 +370106 370106|-|-|-|-| +370109 370109|v-AT|-|-|-| +370114 370114|-|-|-|-| +370127 370127|Medich macrothrombocytopenia|<1 / 1 000 000|-|Infancy
Neonatal| +370131 370131|-|<1 / 1 000 000|Autosomal dominant|-| +370334 370334|EOE
Extraosseous Ewing sarcoma
Extraosseous Ewing tumor
Extraskeletal Ewing tumor|-|-|-| +370348 370348|PPNET
Peripheral PNET|-|-|-| +370396 370396|SCCO
Small cell ovarian carcinoma|-|-|-| +37042 37042|Autoimmune enteropathy type 1
IPEX|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|304790 +370921 370921|CDG syndrome type Iw
CDG-Iw
CDG1W
Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type Iw|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615596 +370924 370924|CDG syndrome type Ix
CDG-Ix
CDG1X
Carbohydrate deficient glycoprotein syndrome type Ix
Congenital disorder of glycosylation type 1x
Congenital disorder of glycosylation type Ix|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615597 +370927 370927|CDG syndrome type Iy
CDG-Iy
CDG1Y
Carbohydrate deficient glycoprotein syndrome type Iy
Congenital disorder of glycosylation type 1y
Congenital disorder of glycosylation type Iy|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300934 +370930 370930|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +370933 370933|GM3 synthase deficiency|-|-|-| +370938 370938|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +370943 370943|SLC35A3-CDG|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615553 +370953 370953|CMD due to dystroglycanopathy|-|-|-| +370959 370959|CMD with cerebellar involvement
CMD-CRB|-|-|-|606612 613151 613155 613156 615351 +370968 370968|CMD with intellectual disability
CMD-MR|-|-|-|606612 608840 613155 613156 615351 +370980 370980|CMD without intellectual disability
CMD-no MR|-|-|-|606612 613152 +370997 370997|MEB disease with bilateral multicystic leucodystrophy|<1 / 1 000 000|-|-|616538 +371 371|GSD due to muscle phosphofructokinase deficiency
GSD type 7
GSD type VII
Glycogen storage disease type 7
Glycogen storage disease type VII
Glycogenosis due to muscle phosphofructokinase deficiency
Glycogenosis type 7
Glycogenosis type VII
Tarui disease|<1 / 1 000 000|Autosomal recessive|Childhood|232800 +371007 371007|CMDH|-|-|-| +371024 371024|Alpha-dystroglycanopathy
Dystroglycanopathy|-|-|-| +371040 371040|Primary alpha-dystroglycanopathy
Primary dystroglycanopathy|-|-|-| +371047 371047|CDG with neurological involvement|-|-|-| +371054 371054|X-linked CDG with intellectual disability as a major feature|-|-|-| +371064 371064|Non-X-linked CDG with intellectual disability as a major feature|-|-|-| +371071 371071|CDG with epilepsy as a major feature|-|-|-| +371157 371157|CDG with hepatic involvement|-|-|-| +371176 371176|CDG with dilated cardiomyopathy|-|-|-| +371183 371183|CDG with cardiac malformation as a major feature|-|-|-| +371188 371188|CDG with intestinal involvement|-|-|-| +371195 371195|CDG-related bone disorder|-|-|-| +371200 371200|CDG with skin involvement|-|-|-| +371207 371207|CDG with nephropathy as a major feature|-|-|-| +371212 371212|CDG with deafness as a major feature|-|-|-| +371235 371235|CDG with developmental anomaly|-|-|-| +371364 371364|IHPRF syndrome
Infantile hypotonia-psychomotor retardation-characteristic facies syndrome|Unknown|Autosomal recessive|Infancy
Neonatal|615419 616801 +371428 371428|MONA spectrum|Unknown|Autosomal recessive|Infancy
Childhood|259600 277950 +371433 371433|-|-|-|-| +371436 371436|-|-|-|-| +371439 371439|-|-|-|-| +371442 371442|-|-|-|-| +371445 371445|-|-|-|-| +371861 371861|-|-|-|-| +37202 37202|Bladder pain syndrome
Painful bladder syndrome|1-5 / 10 000|Unknown|All ages| +373 373|DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome|Unknown|X-linked recessive|Neonatal
Antenatal|312870 +374 374|Expanded spectrum of hemifacial microsomia
Facioauriculovertebral dysplasia
OAV dysplasia
OAVS
Oculoauriculovertebral dysplasia
Oculoauriculovertebral syndrome|1-9 / 100 000|Autosomal dominant
or Not applicable|Neonatal
Antenatal|164210 +375 375|Anti-GBM syndrome
Goodpasture syndrome|Unknown|Not applicable|Adolescent
Adult|233450 +37553 37553|Andersen cardiodysrhythmic periodic paralysis
Andersen syndrome
Andersen-Tawil syndrome
LQT7
Long QT syndrome type 7|Unknown|Autosomal dominant|Childhood|170390 +37559 37559|-|-|-|-| +376 376|Camptodactyly-cleft palate-clubfoot syndrome
Distal arthrogryposis type 3
Distal arthrogryposis type IIA|Unknown|Autosomal dominant|Neonatal
Antenatal|114300 +37612 37612|Episodic ataxia with myokymia|Unknown|Autosomal dominant|-|160120 +376724 376724|-|-|-|-| +377 377|Basal cell nevus syndrome
Gorlin-Goltz syndrome
NBCCS
Nevoid basal cell carcinoma syndrome|1-9 / 100 000|Autosomal dominant|Adolescent
Adult|109400 +37748 37748|Chronic urticaria with gammopathy
Chronic urticaria with macroglobulinemia|<1 / 1 000 000|Not applicable|Adult| +379 379|CGD
Chronic septic granulomatosis|1-9 / 1 000 000|Autosomal recessive
or X-linked recessive|Infancy
Childhood
Adolescent
Adult|233670 233690 233700 233710 306400 613960 +38 38|AKE
PPKP3
Punctate palmoplantar hyperkeratosis type 3
Punctate palmoplantar keratoderma type 3|Unknown|Autosomal dominant
or Not applicable|Adolescent
Adult|101850 +380 380|GCPS|1-9 / 1 000 000|Autosomal dominant|Neonatal|175700 +381 381|Chédiak-Higashi-like syndrome
Griscelli-Pruniéras syndrome
Partial albinism-immunodeficiency syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|214450 607624 609227 +382 382|GAMT deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood|612736 +383 383|Conductive deafness with stapes fixation
DFNX2
Nance deafness
X-linked deafness type 2
X-linked mixed conductive and neurosensory deafness
X-linked mixed conductive and neurosensory hearing loss
X-linked mixed conductive and sensorineural deafness
X-linked mixed conductive and sensorineural hearing loss
X-linked stapes gusher syndrome|Unknown|X-linked recessive|Infancy|304400 +384 384|Huriez syndrome
Palmoplantar hyperkeratosis-sclerodactyly syndrome
Scleroatrophic syndrome
Sclerotylosis|-|-|-|181600 +385 385|NBIA|1-9 / 1 000 000|Autosomal dominant
or Autosomal recessive
or X-linked dominant|Adult
Adolescent
Childhood
Infancy| +386 386|Biliary hamartoma
MHL
Mesenchymal hamartoma of liver
VMC
Von Meyenburg complexes disease|-|-|-| +388 388|Aganglionic megacolon
Congenital intestinal aganglionosis
HSCR|1-5 / 10 000|Autosomal dominant
or Autosomal recessive
or Multigenic/multifactorial
or Not applicable|Infancy
Neonatal|142623 600155 600156 606874 606875 608462 611644 613711 613712 +38874 38874|Dihydropyrimidinase deficiency|<1 / 1 000 000|Autosomal recessive|-|222748 +389 389|Histiocytosis X
Langerhans cell granulomatosis|1-9 / 100 000|Unknown|All ages|604856 +39 39|-|<1 / 1 000 000|Unknown|Infancy
Neonatal| +390 390|Darling disease|-|-|-| +39041 39041|Combined immunodeficiency with hypereosinophilia|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|603554 +39044 39044|Choroidal melanoma
Iris melanoma|1-9 / 100 000|Not applicable|Adult|155720 606660 606661 +391 391|Classic Hodgkin disease|1-5 / 10 000|Unknown|All ages|236000 300221 400021 +391307 391307|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615541 +391311 391311|STAT1 deficiency|-|Autosomal recessive|-|613796 +391316 391316|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +391320 391320|-|<1 / 1 000 000|Autosomal dominant|-|605913 +391327 391327|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|302030 +391330 391330|-|<1 / 1 000 000|X-linked recessive|Childhood|300910 +391343 391343|-|<1 / 1 000 000|Autosomal recessive|Childhood| +391348 391348|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615578 +391351 391351|CMT4K
Charcot-Marie-Tooth disease type 4K
SURF1-related CMT4
SURF1-related severe demyelinating Charcot-Marie-Tooth disease|<1 / 1 000 000|Autosomal recessive|Childhood|616684 +391366 391366|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +391372 391372|-|<1 / 1 000 000|-|Infancy
Neonatal|613670 +391376 391376|Asparagine synthetase deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|615574 +391381 391381|-|-|-|-| +391384 391384|FEPS|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|615040 615552 +391389 391389|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|615040 +391392 391392|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|615552 +391397 391397|Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction
HSAN with hyperhidrosis and gastrointestinal dysfunction
HSAN7
Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|615548 +391408 391408|-|<1 / 1 000 000|Autosomal recessive|-|616033 616817 +391411 391411|-|<1 / 1 000 000|Autosomal recessive
or Not applicable|Adolescent
Adult|615528 615530 +391417 391417|2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
HSD10 deficiency
MHBD deficiency|-|X-linked dominant|-|300438 +391428 391428|2-methyl-3-hydroxybutyric aciduria, classic type
2-methyl-3-hydroxybutyric aciduria, infantile type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type
HSD10 deficiency, classic type
HSD10 deficiency, infantile type
HSD10 disease, classic type
MHBD deficiency, classic type
MHBD deficiency, infantile type|-|X-linked dominant|Infancy
Neonatal| +391457 391457|2-methyl-3-hydroxybutyric aciduria, neonatal type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type
HSD10 deficiency, neonatal type
MHBD deficiency, neonatal type|<1 / 1 000 000|X-linked dominant|Infancy
Neonatal| +391474 391474|ALX3-related frontonasal dysplasia
Isolated median cleft syndrome|Unknown|Autosomal recessive|Neonatal|136760 +391487 391487|-|<1 / 1 000 000|Autosomal dominant|Infancy|614162 +391490 391490|Adult-onset acquired myasthenia
Adult-onset autoimmune myasthenia gravis|1-5 / 10 000|Not applicable
or Multigenic/multifactorial|Adult| +391497 391497|Childhood myasthenia gravis
Juvenile acquired myasthenia
Juvenile autoimmune myasthenia gravis|Unknown|Not applicable|Neonatal
Infancy
Childhood
Adolescent| +391504 391504|NMG
Neonatal myasthenia gravis
Transient neonatal acquired myasthenia
Transient neonatal autoimmune myasthenia gravis|Unknown|Not applicable|Antenatal
Neonatal| +391641 391641|Brunner-Winter syndrome type 1
Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1
FGLDS1
FS1
MMT type 1
MODED syndrome type 1
Microcephaly-digital anomalies-normal intelligence syndrome type 1
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1
Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1
ODED syndrome type 1
Oculo-digito-esophageal-duodenal syndrome type 1|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|164280 +391646 391646|Brachydactyly-short stature-microcephaly syndrome
Brunner-Winter syndrome type 2
FGLDS2
FS2
MMT type 2
Microcephaly-digital anomalies-normal intelligence syndrome type 2
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|614326 +391651 391651|-|-|-|All ages| +391655 391655|-|-|-|-| +391665 391665|HoFH|1-9 / 1 000 000|Autosomal recessive|-|143890 602247 603813 +391673 391673|-|1-5 / 10 000|-|Neonatal| +391677 391677|SOPH syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|614800 +391711 391711|-|-|-|-| +391723 391723|Appendiceal mucinous adenocarcinoma|-|-|-| +391799 391799|Rare genetic dystonic disorder|-|-|-| +392 392|Atriodigital dysplasia type 1
HOS
Heart-hand syndrome type 1|Unknown|Autosomal dominant|Neonatal|142900 +393 393|46,XX testicular DSD
De la Chapelle syndrome
XX, male syndrome|1-9 / 100 000|-|Infancy
Neonatal|278850 300833 400045 +394 394|Cystathionine beta-synthase deficiency
Homocystinuria due to cystathionine beta-synthase deficiency|1-9 / 100 000|Autosomal recessive|Childhood|236200 +394529 394529|-|-|-|Infancy
Neonatal| +394532 394532|-|-|-|-| +395 395|MTHFR deficiency
Methylene tetrahydrofolate reductase deficiency|Unknown|Autosomal recessive|Infancy
Neonatal|236250 +396 396|Chronic hiccough|1-9 / 100 000|Not applicable|All ages| +397 397|Horton disease
Temporal arteritis|1-5 / 10 000|Multigenic/multifactorial|Adult|187360 +397587 397587|Disseminated granulomatous dermatophytosis|Unknown|Not applicable|Adult
Childhood| +397590 397590|-|<1 / 1 000 000|Autosomal dominant|Antenatal
Neonatal| +397593 397593|-|<1 / 1 000 000|Autosomal recessive|Neonatal|615595 +397596 397596|APDS
Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation|<1 / 1 000 000|Autosomal dominant|Infancy
Childhood
Adult|615513 616005 +397606 397606|Chronic diarrhea with HSAN
Chronic diarrhea with hereditary sensory and autonomic neuropathy
Prion protein systemic amyloidosis|<1 / 1 000 000|Autosomal dominant|Adult| +397612 397612|-|<1 / 1 000 000|Autosomal recessive|Neonatal|615637 +397615 397615|-|<1 / 1 000 000|Autosomal recessive|Childhood|615703 +397618 397618|FHONDA syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|609218 +397623 397623|SAMS syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|602471 +397685 397685|Familial isolated prolactin receptor deficiency|Unknown|Autosomal dominant|Adult|615555 +397692 397692|-|Unknown|Autosomal recessive|Childhood|616553 +397695 397695|Del(3)(q27.3)|<1 / 1 000 000|Autosomal dominant|Infancy| +397709 397709|Autosomal recessive spinocerebellar ataxia type 20
Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome
SCAR20|<1 / 1 000 000|Autosomal recessive|Infancy|616354 +397715 397715|JBTS with JATD
Joubert syndrome with JATD|<1 / 1 000 000|Autosomal recessive|Neonatal|615636 616546 +397725 397725|CoPAN
NBIA6
Neurodegeneration with brain iron accumulation due to COASY mutation|<1 / 1 000 000|Autosomal recessive|Childhood|615643 +397735 397735|Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
CMT2U|<1 / 1 000 000|Autosomal dominant|Adult|616280 +397744 397744|Peripheral neuropathy-myopathy-hoarseness-deafness syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|614369 +397750 397750|-|<1 / 1 000 000|Mitochondrial inheritance|Adolescent
Adult| +397755 397755|-|<1 / 1 000 000|Not yet documented|All ages| +397758 397758|Retinal dystrophy with inner nuclear layer and ganglion cell anomalies|<1 / 1 000 000|Autosomal dominant|Adult|616079 +397787 397787|SCID due to IKK2 deficiency|<1 / 1 000 000|Autosomal recessive|Infancy|615592 +397802 397802|-|-|-|-| +397922 397922|Cerebro-cutaneous syndrome with iron overload|<1 / 1 000 000|X-linked recessive|Infancy| +397927 397927|-|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|615709 +397933 397933|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal| +397937 397937|PGBM1|<1 / 1 000 000|Autosomal recessive|Childhood
Adolescent|615895 +397941 397941|Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency
Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency
Congenital disorder of glycosylation type II due to MAN1B1 deficiency
Intellectual disability-truncal obesity syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood| +397946 397946|SPG58|<1 / 1 000 000|Autosomal recessive|Neonatal|611302 +397951 397951|-|<1 / 1 000 000|Autosomal recessive|Infancy|615599 +397959 397959|TCR-alpha-beta+ T-cell deficiency|<1 / 1 000 000|Autosomal recessive|Infancy|615387 +397964 397964|-|<1 / 1 000 000|Autosomal recessive|Infancy|615468 +397968 397968|CMT2R|<1 / 1 000 000|Autosomal recessive|Infancy|615490 +397973 397973|MOMES syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal|606772 +398043 398043|Cancer of penis
Malignant penile tumor
Penile cancer|-|-|Elderly| +398053 398053|Penile adenocarcinoma|-|-|Elderly| +398058 398058|Penile squamous cell carcinoma|-|-|Elderly| +398063 398063|Refractory CD
Refractory sprue|Unknown|Not applicable|All ages| +398069 398069|PWS due to point mutation
Schaaf-Yang syndrome|<1 / 1 000 000|Not applicable|Neonatal|615547 +398073 398073|PWS-like|Unknown|-|Neonatal| +398079 398079|PWS-like due to point mutation|<1 / 1 000 000|-|-| +398088 398088|-|<1 / 1 000 000|Autosomal dominant|Neonatal|185020 +398091 398091|Transplacentally acquired neonatal autoimmune disease|-|-|Neonatal| +398097 398097|Neonatal Hughes syndrome
Neonatal antiphospholipid antibody syndrome|<1 / 1 000 000|-|Neonatal| +398109 398109|Neonatal AHA
Neonatal AIHA|<1 / 1 000 000|-|Neonatal| +398117 398117|Neonatal DM|<1 / 1 000 000|-|Neonatal| +39812 39812|GVH|1-9 / 100 000|Not applicable|All ages|614395 +398124 398124|-|-|-|Neonatal| +398127 398127|-|<1 / 1 000 000|-|Neonatal| +398147 398147|AFP
Atypical facial pain
PIFP|Unknown|-|Adult| +398156 398156|OAFNS|<1 / 1 000 000|Unknown|Neonatal|601452 +398166 398166|FFDD|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Neonatal
Antenatal|136500 227260 614973 614974 +398173 398173|FFDD type II
FFDD2
Focal facial dermal dysplasia 2, Brauer-Setleis type|<1 / 1 000 000|Autosomal dominant|Neonatal
Antenatal|614973 +398189 398189|FFDD type IV
FFDD4
Focal facial dermal dysplasia 4
Focal facial preauricular dysplasia|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|614974 +398934 398934|Epithelial cancer of ovary
Ovarian epithelial cancer
Ovarian malignant epithelial tumor|-|-|-| +398940 398940|Non-epithelial cancer of ovary
Ovarian malignant non-epithelial tumor
Ovarian non-epithelial cancer|-|-|-| +398961 398961|Ovarian mucinous adenocarcinoma|-|-|-| +398971 398971|Ovarian clear cell adenocarcinoma|-|-|-| +398980 398980|PPSPC|-|-|-| +398987 398987|Immature teratoma of ovary
Ovarian immature teratoma
Ovarian malignant teratoma|Unknown|Unknown|Infancy
Childhood
Adolescent
Adult| +399 399|Huntington chorea|1-9 / 100 000|Autosomal dominant|Childhood
Adolescent
Adult
Elderly|143100 +399058 399058|Late-onset distal crystallinopathy|-|Autosomal dominant|-|608810 +399081 399081|-|-|-|-| +399086 399086|Distal myopathy type 3
MPD3|-|-|-|610099 +399096 399096|MMD3
Miyoshi muscular dystrophy type 3|<1 / 1 000 000|-|Adult|613319 +399103 399103|-|<1 / 1 000 000|-|Childhood
Adult| +399158 399158|Bone necrosis|-|-|-| +399164 399164|AVN|-|-|-| +399169 399169|Secondary AVN|-|-|-| +399175 399175|Traumatic AVN|-|-|-| +399180 399180|Secondary non-traumatic AVN|-|-|-| +399185 399185|-|-|-|-| +399293 399293|-|-|-|-| +399302 399302|Primary AVN|-|-|-| +399307 399307|Idiopathic AVN|-|-|-| +399319 399319|-|-|-|-| +399329 399329|Epiphysiolysis of the upper femur
Femoral head epiphysiolysis|-|-|-| +399380 399380|Bone necrosis of genetic origin|-|-|-| +399388 399388|-|-|-|-| +399391 399391|-|-|-|-| +399572 399572|Rare male infertility due to gonadotropic axis disorder
Rare male infertility due to hypothalamic-pituitary-testicular axis disorder|-|-|-| +399584 399584|-|-|-|-| +399685 399685|-|-|-|-| +399764 399764|Male infertility due to testicular dysgenesis or sperm disorder|-|-|-| +399771 399771|-|-|-|-| +399775 399775|-|-|-|-| +399786 399786|-|-|-|-| +399805 399805|-|-|Autosomal recessive
or X-linked recessive
or Autosomal dominant|-|108420 258150 270960 309120 613957 615081 615413 615841 615842 616950 +399808 399808|-|-|-|-|102530 243060 613958 615413 +399813 399813|Male infertility due to asthenozoospermia|-|-|-| +399824 399824|Rare disorder due to impaired sperm transport|-|-|-| +399831 399831|Rare female infertility due to gonadotropic axis disorder
Rare female infertility due to hypothalamic-pituitary-ovarian axis disorder|-|-|-| +399839 399839|-|-|-|-| +399846 399846|-|-|-|-| +399849 399849|-|-|-|-| +399853 399853|-|-|-|-| +399877 399877|Female infertility due to ovarian dysgenesis|-|-|-| +399882 399882|-|-|-|-| +399980 399980|-|-|-|-| +399983 399983|Rare male infertility due to gonadotropic axis disorder of genetic origin
Rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin|-|-|-| +399994 399994|-|-|-|-| +399998 399998|Male infertility due to impaired sperm transport of genetic origin|-|-|-| +40 40|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|602875 +400 400|Hydatid disease
Hydatidosis|Unknown|Not applicable|Adult| +400003 400003|Rare genetic disorder due to impaired sperm transport|-|-|-| +400008 400008|-|-|-|-| +400011 400011|Rare female infertility due to gonadotropic axis disorder of genetic origin
Rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin|-|-|-| +400018 400018|-|-|-|-| +400022 400022|-|-|-|-| +400025 400025|-|-|-|-| +401 401|-|Unknown|Not applicable|All ages| +401764 401764|Trilineage bone marrow failure-developmental delay syndrome|<1 / 1 000 000|Autosomal recessive|Adolescent|615715 +401768 401768|-|<1 / 1 000 000|Autosomal recessive|Childhood|615673 +401777 401777|-|<1 / 1 000 000|Autosomal dominant|Neonatal|615722 +401780 401780|SPG61|<1 / 1 000 000|Autosomal recessive|Infancy|615685 +401785 401785|SPG62|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood|615681 +401795 401795|SPG59|<1 / 1 000 000|Autosomal recessive|Infancy| +401800 401800|SPG60|<1 / 1 000 000|Autosomal recessive|Infancy| +401805 401805|SPG63|<1 / 1 000 000|Autosomal recessive|Infancy|615686 +401810 401810|SPG64|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood|615683 +401815 401815|SPG66|<1 / 1 000 000|Autosomal recessive|Infancy| +401820 401820|SPG67|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood| +401825 401825|SPG68|<1 / 1 000 000|Autosomal recessive|Childhood| +401830 401830|SPG69|<1 / 1 000 000|Autosomal recessive|Infancy| +401835 401835|SPG70|<1 / 1 000 000|Autosomal recessive|Infancy| +401840 401840|SPG71|<1 / 1 000 000|Autosomal recessive|Infancy| +401849 401849|SPG72|<1 / 1 000 000|Autosomal recessive
or Autosomal dominant|Childhood|615625 +401854 401854|Lipoate biosynthesis defect|-|Autosomal recessive|Neonatal
Childhood| +401859 401859|-|<1 / 1 000 000|Autosomal recessive|Neonatal|614462 +401862 401862|-|<1 / 1 000 000|Autosomal recessive|Neonatal|616299 +401866 401866|-|<1 / 1 000 000|Autosomal recessive|Childhood|616859 +401869 401869|NFU1 deficiency|<1 / 1 000 000|Autosomal recessive|Neonatal|605711 +401874 401874|BOLA3 deficiency|<1 / 1 000 000|Autosomal recessive|Neonatal|614299 +401901 401901|C9ORF72-related Huntington disease phenocopy
C9ORF72-related Huntington disease-like syndrome
Huntington disease phenocopy due to C9ORF72 expansions|<1 / 1 000 000|Autosomal dominant|Adult| +401911 401911|AXIN2-related AFAP
AXIN2-related attenuated FAP
AXIN2-related attenuated familial polyposis coli|<1 / 1 000 000|-|Adult| +401920 401920|FHCC
Fibrolamellar hepatocarcinoma|-|Not applicable|Adolescent
Adult| +401923 401923|Del(9)(q31.1q31.3)
Monosomy 9q31.1q31.3|<1 / 1 000 000|Unknown|Neonatal| +401935 401935|Del(14)(q24.1q24.3)
Monosomy 14q24.1q24.3|<1 / 1 000 000|Unknown|Neonatal| +401942 401942|-|<1 / 1 000 000|Unknown|Neonatal|615892 +401945 401945|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|615750 +401948 401948|CA-VA deficiency|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy
Childhood|615751 +401953 401953|Episodic ataxia type 8|<1 / 1 000 000|Autosomal dominant|Infancy|616055 +401959 401959|-|<1 / 1 000 000|Autosomal recessive|Neonatal| +401964 401964|Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons
CMT2 with giant axons
HMSN2 with giant axons|<1 / 1 000 000|Autosomal dominant|Adult|610100 +401973 401973|Male EBP disorder with neurological defects|<1 / 1 000 000|X-linked recessive|Infancy|300960 +401979 401979|-|<1 / 1 000 000|Autosomal recessive|Antenatal|613320 +401986 401986|Del(1)(p31p32)
Monosomy 1p31p32|<1 / 1 000 000|Unknown|Neonatal|613735 +401993 401993|-|-|Autosomal recessive|-| +401996 401996|KIN
Systemic karyomegaly|<1 / 1 000 000|Autosomal recessive|Adult|614817 +402003 402003|-|<1 / 1 000 000|Autosomal dominant|Childhood|615735 +402007 402007|-|-|-|Infancy
Adult| +402014 402014|AML with t(6;9)(p23;q34)|-|-|-| +402017 402017|AML with t(9;11)(p22;q23)|-|-|-| +402020 402020|AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2)|-|-|-| +402023 402023|Megakaryoblastic AML with t(1;22)(p13;q13)|-|-|-| +402026 402026|AML with NPM1 somatic mutations|-|-|-| +402029 402029|EGID|-|-|-| +402035 402035|-|<1 / 1 000 000|-|Infancy
Adult| +402041 402041|AR dRTA
Autosomal recessive distal RTA|Unknown|Autosomal recessive|Infancy
Childhood|267300 602722 +402075 402075|-|-|Autosomal dominant|-|109730 614823 +402082 402082|EPM5
PME type 5
Progressive myoclonus epilepsy type 5|<1 / 1 000 000|Autosomal dominant|Adolescent|613832 +402364 402364|-|<1 / 1 000 000|Autosomal recessive|Infancy|613668 +402823 402823|HDV
Hepatitis D virus|1-5 / 10 000|-|All ages| +403 403|Dexamethasone-sensitive hypertension
FH-I
FH1
Familial hyperaldosteronism type 1
GRA
Glucocorticoid-remediable aldosteronism
Glucocorticoid-sensitive hypertension|1-5 / 10 000|Autosomal dominant|Childhood
Adolescent
Adult|103900 +40366 40366|Fetal acitretin/etretinate syndrome
Retinoid embryopathy|<1 / 1 000 000|Not applicable|Antenatal
Neonatal| +404 404|FH-II
FH2
Familial adrenal adenoma
Familial hyperaldosteronism type 2|1-5 / 10 000|Autosomal dominant|Adult|605635 +404437 404437|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|615760 +404440 404440|-|<1 / 1 000 000|Unknown|Neonatal
Infancy|615761 +404443 404443|DNMT3A-related overgrowth syndrome|<1 / 1 000 000|Unknown|Neonatal|615879 +404448 404448|-|<1 / 1 000 000|Unknown|Infancy
Childhood|615873 +404451 404451|-|<1 / 1 000 000|Autosomal recessive|Neonatal| +404454 404454|NGLY1 deficiency
NGLY1-CDDG|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|615273 +404463 404463|-|<1 / 1 000 000|Unknown|Infancy|613834 +404466 404466|-|<1 / 1 000 000|Autosomal recessive|Adult|615774 +404469 404469|Female infertility due to fecundation defect|-|-|-| +404473 404473|-|<1 / 1 000 000|Unknown|Infancy|615075 +404476 404476|GLOW syndrome|<1 / 1 000 000|Not applicable|Infancy| +404481 404481|-|-|-|-| +404493 404493|SCAR23
Spinocerebellar ataxia autosomal recessive type 23|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood|616949 +404499 404499|Autosomal recessive spinocerebellar ataxia type 15
SCAR15|<1 / 1 000 000|Autosomal recessive|Childhood|615705 +404507 404507|-|<1 / 1 000 000|Not applicable|Adult| +404511 404511|-|-|-|-| +404514 404514|-|-|-|-| +404521 404521|Diaphragmatic spinal muscular atrophy type 2
SMARD2
Severe infantile axonal neuropathy with respiratory failure type 2
X-linked spinal muscular atrophy with respiratory distress|<1 / 1 000 000|Unknown|Neonatal| +404538 404538|X-linked dHMN
X-linked distal spinal muscular atrophy|-|-|-| +404546 404546|Deficiency of IL-36R antagonist
Deficiency of IL-36Ra|<1 / 1 000 000|Autosomal recessive|All ages|614204 +404553 404553|-|-|Autosomal recessive|All ages|615688 +404560 404560|B-K mole syndrome
FAMM-PC syndrome
FAMMM syndrome
Familial Clark nevus syndrome
Familial atypical mole syndrome
Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome
Familial dysplastic nevus syndrome
Melanoma-pancreatic cancer syndrome|Unknown|Autosomal dominant|Childhood
Adolescent
Adult|155600 606719 +404568 404568|-|-|-|-| +404571 404571|-|-|-|-| +404574 404574|-|-|-|-| +404577 404577|-|-|-|-| +404580 404580|Juvenile polyarticular arthritis|-|-|-| +404584 404584|Rare genetic skeletal development disorder|-|-|-| +405 405|FBH
FBHH
FHH
Familial benign hypercalcemia
Familial benign hypocalciuric hypercalcemia|Unknown|Autosomal dominant|All ages|145980 145981 600740 +407 407|NKA
Non-ketotic hyperglycinemia|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal|605899 +408 408|Hyperglycerolemia|Unknown|X-linked recessive|All ages|307030 +409 409|Flegel disease|Unknown|Autosomal dominant
or Not applicable|Adult|144150 +40923 40923|Idiopathic retinal perivasculitis
Idiopathic retinal vasculitis|Unknown|Multigenic/multifactorial
or Not applicable|Adult| +41 41|Acropigmentation of Dohi|Unknown|Autosomal dominant|Childhood|127400 +411493 411493|CLP1-related pontocerebellar hypoplasia
PCH10|<1 / 1 000 000|Autosomal recessive|Neonatal|615803 +411501 411501|-|-|Not applicable|-| +411511 411511|-|-|Not applicable|Infancy| +411515 411515|-|-|Not applicable|Infancy| +411527 411527|CRVO|1-5 / 10 000|-|Adult
Elderly| +411536 411536|Mild PRPP synthetase superactivity
Mild PRPS1 superactivity|<1 / 1 000 000|X-linked recessive|Adolescent
Adult| +411543 411543|Severe PRPP synthetase superactivity
Severe PRPS1 superactivity|<1 / 1 000 000|X-linked recessive|Infancy
Childhood| +411590 411590|-|-|Autosomal dominant|Childhood|614296 +411593 411593|Hirata disease|Unknown|Not applicable|Adult
Elderly| +411602 411602|Autosomal dominant late-onset Parkinson disease
LOPD|Unknown|Autosomal dominant|Adult
Elderly|168601 605543 607060 607688 614203 614251 616361 +411629 411629|-|Unknown|Autosomal recessive|Infancy|219800 +411634 411634|Intermediate cystinosis
Juvenile cystinosis|Unknown|Autosomal recessive|Childhood
Adolescent|219900 +411641 411641|Adult-onset cystinosis
Non-nephropathic cystinosis|Unknown|Autosomal recessive|Adult|219750 +411696 411696|PPI-REE
PPI-responsive esophageal eosinophilia
PPIRee|Unknown|Not applicable|Childhood
Adolescent
Adult| +411703 411703|Non-tuberculous mycobacterial lung disease|-|Not applicable|All ages| +411709 411709|-|Unknown|Autosomal dominant
or Autosomal recessive|Antenatal
Neonatal|191830 615721 +411712 411712|-|<1 / 1 000 000|Autosomal dominant|Adult|615026 +411777 411777|GEKA
Generalized eruptive keratoacanthomas of Grzybowski
Grzybowski syndrome|<1 / 1 000 000|Not applicable|Adult
Elderly| +411788 411788|-|-|Autosomal recessive|-|190330 +411986 411986|Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome|<1 / 1 000 000|Autosomal recessive|Infancy|615859 +412 412|Broad-betalipoproteinemia
Dyslipidemia type 3
Familial dysbetalipoproteinemia
Familial hyperlipoproteinemia type 3
HLP type 3
Hyperlipidemia type 3
Remnant disease|1-5 / 10 000|Multigenic/multifactorial
or Autosomal dominant|All ages| +412022 412022|FDLAB syndrome
Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome
Traboulsi syndrome|<1 / 1 000 000|Autosomal recessive|Childhood
Adolescent|601552 +412035 412035|Del(13)(q12.3)
Monosomy 13q12.3|<1 / 1 000 000|Unknown|Neonatal| +412057 412057|SCAR16
Spinocerebellar ataxia autosomal recessive type 16|<1 / 1 000 000|Autosomal recessive|Adult|615768 +412066 412066|-|<1 / 1 000 000|Autosomal dominant|Adult| +412069 412069|Xia-Gibbs syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal|615829 +412181 412181|DST-related epidermolysis bullosa simplex
EBS-AR BP230|<1 / 1 000 000|Autosomal recessive|Adult|615425 +412189 412189|EBS-AR exophilin 5|<1 / 1 000 000|Autosomal recessive|Childhood|615028 +412206 412206|PFE
Primary retention of teeth|-|Autosomal dominant|-|125350 +412217 412217|-|<1 / 1 000 000|Autosomal dominant|Adolescent
Adult| +413667 413667|-|-|-|-| +413674 413674|-|-|-|-| +413681 413681|-|-|-|-| +413684 413684|-|-|-|-| +413687 413687|-|-|-|-|610460 616903 +413690 413690|-|-|-|-| +413693 413693|-|-|-|-| +413696 413696|-|-|-|-| +414 414|HOGA
Hyperornithinemia
Hyperornithinemia-gyrate atrophy of choroid and retina syndrome
Ornithine aminotransferase deficiency|Unknown|Autosomal recessive|Childhood|258870 +414726 414726|Genetic craniofacial cleft|-|-|-| +414750 414750|-|-|-|-| +415 415|HHH syndrome
ORNT1 deficiency
Ornithine carrier deficiency
Ornithine translocase deficiency
Triple H syndrome|1-5 / 10 000|Autosomal recessive|Childhood
Adolescent
Adult
Neonatal
Infancy|238970 +415286 415286|Kernicterus|Unknown|Not applicable|Neonatal| +416 416|-|1-9 / 1 000 000|Autosomal recessive|All ages|259900 260000 613616 +417 417|NSHPT|Unknown|Autosomal recessive
or Not applicable|Neonatal|239200 +41751 41751|BCD
Bietti crystalline corneoretinal dystrophy
Bietti crystalline retinopathy|Unknown|Autosomal recessive|-|210370 +418 418|CAH|1-9 / 100 000|Autosomal recessive|All ages|201710 201810 201910 202010 202110 613571 +418945 418945|Esophageal carcinoma, salivary gland type|-|Not applicable|-| +418951 418951|Undifferentiated esophageal carcinoma|-|Not applicable|-| +418959 418959|Gastric squamous cell carcinoma|Unknown|Not applicable|-| +419 419|Proline oxidase deficiency|Unknown|Autosomal recessive|All ages|239500 +42 42|ACADM deficiency
Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency
MCAD deficiency
MCADD|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal|201450 +420179 420179|Sotos syndrome 2|<1 / 1 000 000|Autosomal dominant
or Unknown|Infancy|614753 +420259 420259|Secondary PAP|-|Not applicable|-| +420402 420402|-|-|Not applicable|-| +420429 420429|Alpha-1,4-glucosidase acid deficiency, late onset
GSD due to acid maltase deficiency, late onset
GSD type 2, late onset
GSD type II, late onset
Glycogen storage disease type 2, late onset
Glycogen storage disease type II, late onset
Glycogenosis type 2, late onset
Glycogenosis type II, late onset
Pompe disease, late onset|-|Autosomal recessive|Adolescent
Adult| +420485 420485|DYT24
Dystonia 24|-|Autosomal dominant|-|615034 +420492 420492|DYT23
Dystonia 23|<1 / 1 000 000|Autosomal dominant|Adult|614860 +420556 420556|-|-|Not applicable|-| +420561 420561|Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal
Infancy|611816 +420566 420566|Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency|<1 / 1 000 000|Autosomal recessive|Infancy|615888 +420573 420573|SCID due to CTPS1 deficiency|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy
Childhood|615897 +420584 420584|-|<1 / 1 000 000|Autosomal dominant|Antenatal
Neonatal|615849 +420611 420611|TMD
Transient abnormal myelopoiesis
Transient myeloproliferative disease|-|Not applicable|Antenatal
Neonatal|159595 +42062 42062|-|1-9 / 100 000|Autosomal recessive|All ages|242600 +420686 420686|KWWH type IV
Keratoderma with woolly hair type IV
Woolly hair-palmoplantar hyperkeratosis syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy
Childhood|616099 +420699 420699|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy| +420702 420702|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|617014 +420728 420728|COXPD20|<1 / 1 000 000|Autosomal recessive|Infancy|615917 +420733 420733|COXPD21|<1 / 1 000 000|Autosomal recessive|Neonatal|615918 +420741 420741|RNF168 deficiency
Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Adolescent|611943 +420755 420755|-|-|-|-| +420789 420789|-|<1 / 1 000 000|Not applicable|Adult
Elderly| +420794 420794|Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy| +422 422|-|1-9 / 100 000|Autosomal dominant
or Not applicable
or Autosomal recessive|All ages|178600 265400 615342 615343 615344 +422526 422526|Hereditary clear cell renal cell adenocarcinoma|Unknown|Unknown|Adult|144700 +423 423|Hyperthermia of anesthesia|Unknown|Autosomal dominant|All ages|145600 154275 154276 600467 601887 601888 +423275 423275|SCA40|<1 / 1 000 000|Autosomal dominant|Adult|616053 +423296 423296|SCA38|<1 / 1 000 000|Autosomal dominant|Adult|615957 +423306 423306|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy| +423384 423384|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|616022 +423454 423454|Ectodermal dysplasia-short stature syndrome
Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome|<1 / 1 000 000|Autosomal recessive|Infancy|616029 +423461 423461|ML 3 alpha/beta
ML III alpha/beta
Mucolipidosis type 3 alpha/beta|1-5 / 10 000|Autosomal recessive|-|252600 +423470 423470|ML 3 gamma
ML III gamma
Mucolipidosis type 3 gamma|Unknown|Autosomal recessive|-|252605 +423479 423479|-|<1 / 1 000 000|X-linked recessive|Antenatal
Neonatal| +423655 423655|-|-|-|Antenatal
Neonatal
Infancy
Childhood| +423662 423662|-|-|-|-| +423693 423693|DORV with subaortic or doubly committed VSD|-|Multigenic/multifactorial|-| +423712 423712|DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy|-|Multigenic/multifactorial|-| +423717 423717|-|-|Not applicable|-| +423771 423771|Rare gastric carcinoma|-|-|-| +423776 423776|Hereditary cancer of stomach|-|-|-| +423781 423781|Gastric carcinoma, salivary gland type|-|Not applicable|-| +423786 423786|Undifferentiated gastric carcinoma|-|Not applicable|-| +423793 423793|Rare tumor of small bowel|-|-|-| +423798 423798|Mesenchymal tumor of small bowel|-|-|-| +423894 423894|-|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal
Infancy| +423957 423957|Rare carcinoma of small bowel|-|-|-| +423968 423968|Squamous cell carcinoma of small bowel|-|Not applicable|-| +423975 423975|Neuroendocrine tumor of small bowel|-|-|-| +423982 423982|Appendiceal epithelial tumor|-|-|-| +423991 423991|-|-|-|-| +423994 423994|-|-|Not applicable|-| +423998 423998|Rare rectal epithelial tumor|-|-|-| +424 424|Familial non-immune hyperthyroidism
Resistance to thyroid stimulating hormone|Unknown|Autosomal dominant|All ages|609152 +424002 424002|Rectal squamous cell carcinoma|-|Not applicable|-| +424010 424010|-|-|-|-| +424013 424013|-|-|-|-| +424016 424016|-|-|Not applicable|-| +424019 424019|-|-|Not applicable|-| +424027 424027|EPM8
PME type 8
Progressive myoclonic epilepsy due to CERS1 deficiency
Progressive myoclonus epilepsy type 8|<1 / 1 000 000|Autosomal recessive|Childhood
Adolescent|616230 +424033 424033|Rare pancreatic epithelial tumor|-|-|-| +424039 424039|Pancreatic squamous cell carcinoma|-|Not applicable|-| +424046 424046|Pancreatic acinar cell carcinoma|-|Not applicable|-| +424053 424053|Pancreatic mucinous cystadenocarcinoma|-|Not applicable|-| +424058 424058|Pancreatic intraductal papillary mucinous carcinoma|-|Not applicable|-| +424065 424065|Pancreatic solid pseudopapillary carcinoma|-|Not applicable|-| +424073 424073|Pancreatic serous cystadenocarcinoma|-|Not applicable|-| +424080 424080|OGCT of pancreas
Pancreatic osteoclastic giant cell tumor
Pancreatic undifferentiated carcinoma with osteoclast-like giant cells
Undifferentiated carcinoma of pancreas with osteoclast-like giant cells|-|Not applicable|-| +424099 424099|Microphthalmia-coloboma-rhizomelic skeletal dysplasia|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Neonatal
Infancy|615877 +424107 424107|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy| +424261 424261|Autosomal recessive muscular dystrophy due to LAP1B deficiency
Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency|<1 / 1 000 000|Autosomal recessive|Childhood
Adolescent|617072 +424925 424925|-|-|-|-| +424933 424933|Rare epithelial tumor of liver and IBT|-|-|-| +424936 424936|Carcinoma of liver and IBT|-|-|-| +424943 424943|Adenocarcinoma of liver and IBT|-|Not applicable|-| +424970 424970|Undifferentiated carcinoma of liver and IBT|-|Not applicable|-| +424975 424975|Squamous cell carcinoma of liver and IBT|-|Not applicable|-| +424982 424982|Intrahepatic bile duct cystadenocarcinoma|-|Not applicable|-| +424991 424991|Adenocarcinoma of gallbladder and EBT|-|Not applicable|-| +424996 424996|Squamous cell carcinoma of gallblader and EBT|-|Not applicable|-| +425 425|ApoA-I deficiency
Familial apoA-I deficiency
Familial hypoalphalipoproteinemia|<1 / 1 000 000|Autosomal dominant|All ages|604091 +425003 425003|-|-|-|-| +425120 425120|SAVI|<1 / 1 000 000|Autosomal dominant|Infancy|615934 +425368 425368|Rare epithelial tumor of small bowel|-|-|-| +42642 42642|Marshall syndrome with periodic fever
Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome|Unknown|Unknown|Childhood
Infancy| +42665 42665|Hypopigmentation-deafness syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal|103500 +427 427|-|Unknown|Autosomal recessive|Childhood|203400 606984 610600 +42738 42738|-|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Childhood| +42775 42775|Pascual-Castroviejo syndrome type 2|<1 / 1 000 000|X-linked dominant|Infancy
Antenatal
Neonatal|606519 +428 428|AD hypocalcemia|Unknown|Autosomal dominant|All ages|601198 615361 +429 429|-|1-9 / 100 000|Autosomal dominant|Childhood|146000 +43 43|ALD
X-ALD
X-linked ALD|1-9 / 100 000|X-linked recessive|All ages|300100 302700 +431140 431140|-|<1 / 1 000 000|X-linked recessive|Antenatal
Neonatal|300915 +431149 431149|Combined immunodeficiency with childhood-onset Kaposi sarcoma
Combined immunodeficiency with impaired immunity to HHV-8
Combined immunodeficiency with impaired immunity to human herpes virus 8|<1 / 1 000 000|Autosomal recessive|Childhood|615593 +43115 43115|Aconitase deficiency
ISCU myopathy
Iron-sulfur cluster deficiency myopathy
Myopathy with exercise intolerance, Swedish type|<1 / 1 000 000|Autosomal recessive|Childhood|255125 +431156 431156|-|-|-|-| +43116 43116|Serotonergic syndrome
Serotonin storm
Serotonin toxicity
Serotonin toxidrome|Unknown|Not applicable|All ages| +431166 431166|Primary immunodeficiency with disseminated vaccine-strain measles|<1 / 1 000 000|Autosomal recessive|Infancy|616636 +43117 43117|-|Unknown|Not applicable|All ages| +43119 43119|-|Unknown|Not applicable|All ages| +431255 431255|Neurogenic scapuloperoneal amyotrophy, New England type
SPSMA
Scapuloperoneal neuronopathy|<1 / 1 000 000|Autosomal dominant|Infancy
Childhood
Neonatal|181405 +431263 431263|Late-onset SPMD with hyaline bodies
Late-onset scapuloperoneal syndrome, myopathic type|-|-|-| +431272 431272|X-linked SPMD
X-linked scapuloperoneal syndrome|<1 / 1 000 000|X-linked dominant|Adult|300695 +431320 431320|SPOAN and SPOAN-related disorder|-|-|-| +431329 431329|SPG57
Spastic paraplegia due to partial TFG deficiency|<1 / 1 000 000|Autosomal recessive|Infancy|615658 +431341 431341|-|Unknown|Not applicable|Neonatal| +431344 431344|-|Unknown|Not applicable|-| +431347 431347|Vesicourachal diverticulum|-|Not applicable|-| +431353 431353|-|-|-|All ages| +431361 431361|2,4-dienoyl-CoA reductase deficiency
DECR deficiency with hyperlysinemia|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|616034 +432 432|Gonadotropic deficiency
Isolated congenital gonadotropin deficiency
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH|-|Autosomal dominant
or Autosomal recessive
or X-linked recessive
or Multigenic/multifactorial|Infancy
Neonatal|146110 147950 244200 308700 610628 612370 612702 614837 614838 614839 614840 614841 614842 614858 614880 615266 615269 615270 +43393 43393|-|1-9 / 1 000 000|Not applicable|Adult| +434179 434179|Microcephaly-cerebral malformation-orofaciodigital syndrome
OFD14
Oral-facial-digital syndrome type 14|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|615948 +434786 434786|-|-|-|-| +434809 434809|-|-|-|Neonatal| +435 435|HI syndrome
Hypomelanosis of Ito
Incontinentia pigmenti type 1
Pigmentary mosaicism, Ito type|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive
or Not applicable|Childhood|300337 +435329 435329|Multiple ossifying fibroma|Unknown|Autosomal dominant|Childhood
Adolescent
Adult|137575 +435365 435365|LUTO|-|-|-| +435372 435372|-|-|Not applicable|Antenatal
Neonatal
Infancy
Childhood
Adolescent| +435387 435387|CMT2 due to VCP mutation|<1 / 1 000 000|Autosomal dominant|Childhood
Adult|616687 +435438 435438|EPM7
MEAK
Myoclonus epilepsy and ataxia due to potassium channel mutation
PME type 7
Progressive myoclonic epilepsy due to KV3.1 deficiency
Progressive myoclonus epilepsy type 7|<1 / 1 000 000|Autosomal dominant|Childhood|616187 +435554 435554|-|-|-|-| +435561 435561|-|-|-|-| +435564 435564|-|-|-|-| +435603 435603|-|-|-|-| +435606 435606|-|-|-|-| +435609 435609|-|-|-|-| +435612 435612|-|-|-|-| +435623 435623|Congenital absence of toes|-|No data available|Neonatal
Antenatal| +435628 435628|Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome|-|Not applicable
or Autosomal dominant|-|614098 +435638 435638|Del(3)p(25.3)
Intellectual disability-epilepsy-stereotypic hand movement syndrome
Monosomy 3p25.3|<1 / 1 000 000|Not applicable|Neonatal
Infancy| +435651 435651|CIDEC-related FPLD|<1 / 1 000 000|Autosomal recessive|Adolescent|615238 +435660 435660|FPLD6
LIPE-related FPLD|<1 / 1 000 000|Autosomal recessive|Adult|615980 +435743 435743|-|-|-|Antenatal
Neonatal| +435804 435804|-|<1 / 1 000 000|Autosomal dominant|Childhood
Adolescent| +435819 435819|CMT2 due to TFG mutation|<1 / 1 000 000|Autosomal dominant|Adult| +435845 435845|Lethal neonatal rigidity-multifocal seizure syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal|614498 +435930 435930|-|<1 / 1 000 000|Autosomal recessive|Neonatal|212550 +435934 435934|COG2-related congenital disorder of glycosylation|<1 / 1 000 000|Autosomal recessive|Infancy| +435938 435938|-|<1 / 1 000 000|X-linked recessive|Antenatal
Neonatal| +435953 435953|Ruijs-Aalfs syndrome|<1 / 1 000 000|Autosomal recessive|Childhood
Adolescent|616200 +435988 435988|CAID syndrome
Chronic atrial dysrhythmia-intestinal motility disorder|<1 / 1 000 000|Autosomal recessive|Childhood
Adolescent
Adult|616201 +435998 435998|RI-CMT type D|<1 / 1 000 000|Autosomal recessive|Adult|616039 +436 436|HPP
Phosphoethanolaminuria
Rathburn disease|Unknown|Autosomal dominant
or Autosomal recessive|All ages|146300 241500 241510 +436003 436003|5q23 microdeletion syndrome|<1 / 1 000 000|Unknown|Antenatal
Neonatal| +436141 436141|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy| +436144 436144|-|<1 / 1 000 000|Autosomal dominant|Antenatal
Neonatal| +436151 436151|Intellectual disability-loss of expressive language-facial dysmorphism syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|616078 616083 +436159 436159|ALPS due to CTLA4 haploinsuffiency
ALPS type 5
ALPS type V
Autoimmune lymphoproliferative syndrome type 5
Autoimmune lymphoproliferative syndrome type V
CHAI
CTLA-4 haploinsufficiency with autoimmune infiltration disease|<1 / 1 000 000|Autosomal dominant|Childhood
Adolescent
Adult|616100 +436166 436166|NLR-related infantile enterocolitis-autoinflammatory syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal|616050 +436169 436169|THBD-related bleeding disorder
THBD-related coagulopathy
Thrombomodulin-related coagulopathy|<1 / 1 000 000|Autosomal dominant|All ages|614486 +436174 436174|CAGSSS|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood|616007 +436182 436182|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy
Childhood|616541 +436242 436242|-|<1 / 1 000 000|Autosomal dominant|Adult|616117 +436245 436245|Retinal dystrophy-juvenile cataract-short stature syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|616108 +436252 436252|CID-MIA/early-onset IBD|-|Autosomal recessive|-|243150 +436271 436271|-|-|Autosomal recessive|Childhood| +436274 436274|PXE-like syndrome with retinitis pigmentosa|<1 / 1 000 000|Autosomal recessive|Childhood
Adolescent
Adult| +437 437|-|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked dominant|All ages| +437552 437552|Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
CD16 deficiency|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy
Childhood|615707 +437572 437572|MYH7-related late-onset SPMD
MYH7-related late-onset scapuloperoneal syndrome|<1 / 1 000 000|Autosomal dominant|Adult|181430 +438072 438072|-|-|-|-| +438075 438075|-|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Childhood|616095 +438114 438114|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|616140 +438117 438117|Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|615155 +438134 438134|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|615919 +438159 438159|-|-|Autosomal dominant|-|615952 +438178 438178|Severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency
Severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|616154 +438207 438207|-|<1 / 1 000 000|Autosomal recessive|Infancy|616176 +438213 438213|-|-|Autosomal dominant
or Not applicable
or Unknown|-|616158 +438216 438216|-|<1 / 1 000 000|Autosomal dominant
or Not applicable|Neonatal
Infancy|616158 +438266 438266|PERM|Unknown|Not applicable|Adult|184850 +438274 438274|Mahvash disease|<1 / 1 000 000|Autosomal recessive|Adult| +438279 438279|-|-|Not applicable|-| +439 439|-|Unknown|Autosomal recessive
or Not applicable|All ages|277200 +439167 439167|Uteroplacental vascular insufficiency|1-5 / 10 000|Not applicable|Adult| +439175 439175|Childhood AIS
Childhood arterial ischemic stroke
Pediatric AIS|-|Not applicable|-| +439196 439196|NAE
Necrolytic acral erythema|-|Not applicable|-| +439202 439202|Chronic obstetric brachial plexus injury
Chronic obstetric brachial plexus palsy
Non-recovering OBPI
Non-recovering OBPL|-|Not applicable|-| +439212 439212|EMARDD|-|Autosomal recessive|-|614399 +439218 439218|KCNQ2-NEE|<1 / 1 000 000|Autosomal dominant|Neonatal
Infancy|613720 +439224 439224|Leukocyte chemotactic factor-2 amyloidosis|-|Not applicable|-| +439232 439232|Apolipoprotein A-IV amyloidosis|<1 / 1 000 000|Not applicable|Adult| +439246 439246|Beta2-microglobulinic amyloidosis|-|-|Adult| +439254 439254|ITM2B-related amyloidosis
ITM2B-related cerebral amyloid angiopathy|<1 / 1 000 000|Autosomal dominant|Adult|117300 176500 +439729 439729|Cutaneous PAN
Cutaneous periarteritis nodosa|-|Not applicable|-| +439737 439737|Primary PAN
Primary periarteritis nodosa|-|Not applicable|-| +439746 439746|Scondary PAN
Secondary periarteritis nodosa|-|Not applicable|-| +439755 439755|Single-organ PAN
Single-organ periarteritis nodosa|-|Not applicable|-| +439762 439762|Systemic PAN
Systemic periarteritis nodosa|-|Not applicable|-| +439822 439822|-|<1 / 1 000 000|Unknown|Neonatal
Infancy|615668 +439849 439849|-|-|-|-| +439854 439854|Fatal congenital hypertrophic cardiomyopathy due to GSD
Fatal congenital hypertrophic cardiomyopathy due to glycogenosis|<1 / 1 000 000|Not applicable|Antenatal
Neonatal|261740 +439881 439881|Croupous bronchitis
Fibrinous bronchitis
Pseudo-membranous bronchitis|-|-|-| +439897 439897|-|<1 / 1 000 000|Autosomal recessive|Antenatal|616258 +44 44|NALD|Unknown|Autosomal recessive|Infancy
Neonatal
Childhood|202370 266510 601539 614863 614867 614871 614873 614877 614885 614920 +440 440|-|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Infancy
Neonatal|146450 300633 300758 300856 +440221 440221|Congenital CNIII lesion
Congenital third cranial nerve palsy|-|Not applicable|-| +440233 440233|Benign congenital sixth cranial nerve palsy
Congenital CNVI palsy|-|Not applicable|-| +440354 440354|-|<1 / 1 000 000|Autosomal dominant|Antenatal
Neonatal| +440368 440368|-|-|Not applicable|-| +440392 440392|Interstitial lung disease due to surfactant protein C deficiency|-|Autosomal dominant|Infancy
Childhood
Adolescent
Adult|610913 +440402 440402|Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency|-|Autosomal recessive|-|610921 +440427 440427|Hereditary pulmonary alveolar proteinosis with hepatic involvement
Interstitial lung and liver disease
PAP, Reunion island type
Pulmonary alveolar proteinosis, Reunion island type|-|Autosomal recessive|-|615486 +440437 440437|FCCTX|-|Autosomal dominant|-| +440701 440701|-|-|-|-| +440706 440706|-|<1 / 1 000 000|Autosomal recessive|Childhood|608611 +440713 440713|Isolated SHPK deficiency|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal| +440724 440724|-|-|Not applicable|-| +440727 440727|Combined hamartoma of the retina and RPE|<1 / 1 000 000|Not applicable|Childhood| +440731 440731|-|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Childhood|615604 +440987 440987|-|-|Not applicable|-| +441 441|Bradbury-Eggleston syndrome
Idiopathic orthostatic hypotension
PAF
Pure dysautonomia
Pure idiopatic dysautonomia|1-9 / 1 000 000|Not applicable|Adult| +441344 441344|-|-|-|-| +441434 441434|-|-|-|-| +441447 441447|-|-|Autosomal recessive
or Autosomal dominant|-| +441452 441452|-|-|Autosomal dominant|-|613763 +442 442|-|1-5 / 10 000|Autosomal recessive|Neonatal
Antenatal| +442582 442582|Heavy chain amyloidosis|-|Not applicable|-| +442835 442835|Undetermined EOEE|-|Autosomal dominant
or Autosomal recessive
or Not applicable
or X-linked recessive|Neonatal
Infancy|614558 615833 615871 615905 616056 616211 616339 616346 616366 616409 617105 617106 617132 617153 617162 617166 +443057 443057|Porphyria cutanea tarda type I|-|Multigenic/multifactorial|-|176090 +443062 443062|Porphyria cutanea tarda type II|-|Autosomal dominant|-|176100 +443070 443070|-|-|Not applicable|-| +443073 443073|CMT2S|-|Autosomal recessive|Infancy
Childhood|616155 +443079 443079|CSCR|-|Not applicable|-| +443084 443084|-|-|Not applicable|-| +443095 443095|-|-|-|-| +443098 443098|-|<1 / 1 000 000|Autosomal dominant|Childhood
Adolescent
Adult|144755 +443101 443101|-|-|Not applicable|-| +443159 443159|Lymphoplasmacytic lymphoma without Immunoglobulin M production|-|Not applicable|-| +443162 443162|MHAC|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|605013 +443167 443167|NMC|-|Not applicable|-| +443173 443173|Puerperal psychosis|-|Not applicable|-| +443180 443180|Spontaneous cerebrospinal fluid leak|-|Not applicable|-| +443192 443192|Classic SPS|Unknown|Not applicable|Adult|184850 +443197 443197|X-linked dominant erythropoietic protoporphyria
X-linked dominant protoporphyria
XLDPP
XLP
XLPP|<1 / 1 000 000|X-linked dominant|Childhood|300752 +443227 443227|-|-|Not applicable|-| +443236 443236|Familial orthostatic tachycardia due to norepinephrine transporter deficiency
Postural tachycardia syndrome due to NET deficiency|<1 / 1 000 000|Autosomal dominant|Adult|604715 +443287 443287|-|-|-|-| +443291 443291|HIV-related cancer|-|Not applicable|-| +443804 443804|Focal stiff-person syndrome
Stiff leg syndrome|Unknown|Not applicable|Adult|184850 +443811 443811|CID due to PGM3 deficiency
Combined immunodeficiency due to PGM3 deficiency
PGM3-related congenital disorder of glycosylation|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy
Childhood|615816 +443909 443909|Familial nonpolyposis colon cancer
Familial nonpolyposis colorectal cancer
HNPCC
Hereditary nonpolyposis colorectal cancer|-|-|-| +443950 443950|AR-CMT2T
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T
CMT2T|<1 / 1 000 000|Autosomal recessive|Adult|616233 617017 +443988 443988|Congenital nephrosis-cerebral ventriculomegaly syndrome
VMCKD|<1 / 1 000 000|Autosomal recessive|Antenatal|219730 +443995 443995|MFDA|<1 / 1 000 000|Autosomal dominant
or Not applicable|Neonatal
Infancy|616367 +444 444|Hypotrichosis, Marie Unna type
MUHH
Marie Unna congenital hypotrichosis|Unknown|Autosomal dominant|Infancy
Neonatal|146550 612841 +444002 444002|11q22.2-q22.3 deletion syndrome
Del(11)(q22.2q22.3)
Monosomy 11q22.2-q22.3
Monosomy 11q22.2q22.3|<1 / 1 000 000|Not applicable|Neonatal
Infancy| +444013 444013|COXPD23|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy
Childhood|616198 +444051 444051|Del(20)(q11.2)
Monosomy 20q11|<1 / 1 000 000|Not applicable|Neonatal
Antenatal| +444069 444069|-|<1 / 1 000 000|Autosomal recessive|Antenatal|243605 616369 +444072 444072|Cerebellofaciodental syndrome|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|616202 +444077 444077|CHOPS syndrome|<1 / 1 000 000|Autosomal dominant
or Not applicable|Antenatal
Neonatal|616368 +444092 444092|COPA defect|<1 / 1 000 000|Autosomal dominant|Infancy
Childhood|616414 +444099 444099|SPG73|<1 / 1 000 000|Autosomal dominant|Adult|616282 +444116 444116|-|-|-|-| +444138 444138|PLACK syndrome|<1 / 1 000 000|Autosomal recessive|Infancy|616295 +444316 444316|Idiopathic phalangeal acroosteolysis|-|Not applicable|-| +444458 444458|COXPD24|<1 / 1 000 000|Autosomal recessive|Infancy|616239 +444463 444463|Evans syndrome associated with primary immunodeficiency
TPPII deficiency
TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease
TRIANGLE disease
Tripeptidyl-peptidase II deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood| +444490 444490|-|1-9 / 100 000|Autosomal recessive|Childhood|118830 207750 238600 615947 +444916 444916|-|-|-|-| +444941 444941|-|-|-|-| +445018 445018|CID due to LRBA deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood|614700 +445038 445038|3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome
MGA7|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|616271 +445062 445062|Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood
Adolescent|616192 +445110 445110|LGMD due to POMK deficiency|<1 / 1 000 000|Autosomal recessive|Infancy|616094 +445197 445197|-|-|-|-| +446 446|-|<1 / 1 000 000|Autosomal recessive|Neonatal|231100 +447 447|Marchiafava-Micheli disease
PNH|-|-|All ages|300818 615399 +447731 447731|Primary immunodeficiency with multifaceted aberrant lymphoid immunity|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy| +447737 447737|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|616433 +447740 447740|-|-|Autosomal recessive|Adolescent| +447753 447753|AD-SPG9A|<1 / 1 000 000|Autosomal dominant|Infancy
Adolescent
Adult|601162 +447757 447757|AD-SPG9B|<1 / 1 000 000|Autosomal dominant|Adult
Infancy
Adolescent| +447760 447760|AR-SPG9B|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood|616586 +447764 447764|-|-|Not applicable|-| +447771 447771|-|-|-|-| +447774 447774|-|-|Not applicable|-| +447777 447777|KTOC
Odontogenic keratocystoma|-|Not applicable|-| +447784 447784|-|<1 / 1 000 000|Autosomal recessive|Neonatal|614741 +447788 447788|Cortical visual impairment|Unknown|Not applicable|Neonatal
Infancy| +447792 447792|-|-|Autosomal dominant|-| +447795 447795|-|-|No data available|No data available| +447874 447874|-|-|-|-| +447877 447877|PPAP|-|Autosomal dominant|-|612591 615083 +447881 447881|Isolated neck extensor myopathy|-|Not applicable|-| +447893 447893|-|<1 / 1 000 000|Autosomal recessive|Adolescent|607694 +447896 447896|TACH syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood|607694 +447954 447954|COXPD25|<1 / 1 000 000|Autosomal recessive|Neonatal|616430 +447961 447961|-|<1 / 1 000 000|Autosomal recessive|Infancy| +447964 447964|Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation
CMT2V
Hereditary adult-onset painful axonal polyneuropathy|<1 / 1 000 000|Autosomal dominant|Adult
Elderly
Adolescent|616491 +447974 447974|-|<1 / 1 000 000|Autosomal recessive|Infancy|616549 +447977 447977|-|<1 / 1 000 000|Autosomal dominant|Infancy
Childhood|616852 +447980 447980|Dup(19)(p13.13)|<1 / 1 000 000|Unknown|Antenatal
Neonatal|613638 +447985 447985|Partial duplication of chromosome 19p
Partial trisomy of chromosome 19p
Partial trisomy of the short arm of chromosome 19|-|-|-| +447997 447997|ASCT1 deficiency
Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|616657 +448 448|-|1-9 / 100 000|X-linked recessive|Infancy| +448010 448010|CDG syndrome type IZ
CDG-IZ
CDG1Z
Carbohydrate deficient glycoprotein syndrome type IZ
Congenital disorder of glycosylation type 1Z|<1 / 1 000 000|Autosomal recessive|Infancy|616457 +448237 448237|Zika virus infection|Unknown|Not applicable|All ages| +448242 448242|Brachyolmia, Hobaek/Toledo type|<1 / 1 000 000|Autosomal recessive|Childhood|271530 271630 +448251 448251|Lichtenstein-Knorr syndrome
Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome
SCAR19|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood
Adolescent|616291 +448264 448264|-|<1 / 1 000 000|Autosomal dominant|No data available|616400 +448267 448267|-|<1 / 1 000 000|Autosomal recessive|Neonatal| +448270 448270|-|Unknown|Not applicable|Antenatal| +448348 448348|Familial infantile gigantism due to a point mutation
X-LAG (X-linked acrogigantism) due to a point mutation|-|-|-| +448372 448372|Familial infantile gigantism due to Xq26 microduplication
Familial infantile gigantism due to dup(X)q(26)
X-LAG (X-linked acrogigantism) due to dup(X)q(26)|<1 / 1 000 000|X-linked dominant|Infancy
Childhood|300942 +448426 448426|-|-|-|-| +44890 44890|GIST
Gastrointestinal stromal sarcoma|1-5 / 10 000|Not applicable
or Autosomal dominant|Childhood
Adolescent
Adult|606764 +449 449|-|1-9 / 1 000 000|Not applicable|Neonatal
Infancy
Childhood|114550 +449266 449266|-|1-5 / 10 000|Not applicable|-| +449280 449280|-|<1 / 1 000 000|Not applicable|All ages| +449285 449285|-|1-9 / 100 000|Not applicable|All ages| +449291 449291|-|Unknown|X-linked dominant|Neonatal
Infancy
Childhood|300624 +449306 449306|-|-|-|-|614372 +449395 449395|-|Unknown|Not applicable|Adult
Elderly| +449400 449400|IgG4-related periaortitis|Unknown|Not applicable|Adult
Elderly| +449427 449427|Idiopathic hypertrophic pachymeningitis|Unknown|Not applicable|Adult
Elderly| +449432 449432|IgG4-related sialadenitis
Küttner tumor|Unknown|Not applicable|Adult
Elderly| +449563 449563|-|Unknown|Not applicable|Adult
Elderly| +449566 449566|IgG4-related eosinophilic angiocentric fibrosis|<1 / 1 000 000|Not applicable|Adult| +45 45|AMP deaminase deficiency
Myoadenylate deaminase deficiency|Unknown|Autosomal recessive|All ages|612874 615511 +450 450|Heterotaxy syndrome
Lateralization defect
Visceral heterotaxy|1-9 / 100 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Infancy
Neonatal|270100 306955 601086 605376 606325 613751 614779 616749 +450322 450322|-|-|Not applicable|Adolescent
Adult
Elderly| +451602 451602|-|<1 / 1 000 000|Not applicable|Adult
Elderly| +451607 451607|-|<1 / 1 000 000|Not applicable|Adult
Elderly| +451612 451612|-|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|149700 +452 452|X-linked lissencephaly with ambiguous genitalia
X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome
XLAG (X-linked lissencephaly with abnormal genitalia) syndrome|Unknown|X-linked recessive|Neonatal|300215 +453499 453499|-|<1 / 1 000 000|Autosomal dominant
or Not applicable|-|616580 +453504 453504|Au-Kline syndrome|<1 / 1 000 000|Autosomal dominant
or Not applicable|Neonatal|616580 +453510 453510|Congenital absence of pain with severe intellectual disability
Congenital analgesia with severe intellectual disability
Congenital insensitivity to pain with preserved temperature sensation
Congenital insensitivity to pain with severe non-progressive cognitive delay|<1 / 1 000 000|Autosomal recessive|-| +453521 453521|SCAR17
Spinocerebellar ataxia autosomal recessive type 17|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|616127 +453533 453533|-|<1 / 1 000 000|Autosomal recessive|Childhood|616113 +45358 45358|FEOM|1-9 / 1 000 000|Autosomal dominant
or Autosomal recessive
or Not applicable|Neonatal|135700 600638 602078 609384 609428 609612 +454 454|-|Unknown|Not applicable|Adult| +45448 45448|-|1-9 / 1 000 000|Autosomal recessive|Adult|254130 613318 +45452 45452|-|Unknown|Not applicable|Infancy
Neonatal| +45453 45453|-|1-9 / 100 000|Not applicable|Infancy
Childhood| +454700 454700|-|Unknown|Not applicable|All ages|123400 +454706 454706|PMA|-|Not applicable|Adult| +454710 454710|-|<1 / 1 000 000|Not applicable|Adult
Elderly| +454714 454714|PCL|-|Not applicable|Adult
Elderly| +454718 454718|Adie's syndrome|Unknown|Not applicable|Adult|103100 +454723 454723|-|-|Not applicable|Adult
Elderly| +454742 454742|-|-|Not applicable|-| +454745 454745|-|<1 / 1 000 000|Not applicable
or Multigenic/multifactorial|All ages|245300 +454750 454750|-|-|Not applicable|Neonatal| +454821 454821|-|-|Not applicable|All ages|181030 +454831 454831|Acute radiation sickness|<1 / 1 000 000|Not applicable|All ages| +454836 454836|-|<1 / 1 000 000|Not applicable|All ages| +454840 454840|NTHL1-related AFAP|-|Autosomal recessive|-|616415 +454872 454872|-|-|-|-| +454887 454887|-|-|-|-| +455 455|Ichthyosis bullosa of Siemens
SEI|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|146800 +456298 456298|Del(1)(p35.2)
Deletion 1p35.2
Monosomy 1p35.2|<1 / 1 000 000|Not applicable|Neonatal| +456312 456312|IMNEPD|<1 / 1 000 000|Autosomal recessive|Infancy|616263 +456318 456318|HSAN1E
HSN1E
Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome|<1 / 1 000 000|Autosomal dominant|Adolescent
Adult|614116 +456328 456328|Xq28 contiguous gene deletion syndrome|<1 / 1 000 000|Unknown|Antenatal
Neonatal|300219 +456333 456333|Familial carcinoid tumor of small intestine
Hereditary neuroendocrine tumor of small bowel|-|Autosomal dominant|-| +456369 456369|-|<1 / 1 000 000|Autosomal recessive|Childhood
Adolescent
Adult
Elderly|616199 +457 457|HI
Ichthyosis congenita, Harlequin type
Ichthyosis fetalis, Harlequin type|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|242500 +457050 457050|-|<1 / 1 000 000|Autosomal dominant|Infancy
Childhood|616209 +457059 457059|-|-|-|Neonatal
Infancy
Childhood| +457062 457062|-|-|-|-| +457074 457074|-|-|-|-| +457077 457077|Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome|<1 / 1 000 000|Not applicable|Adolescent
Adult
Elderly| +457083 457083|SGF|Unknown|No data available|Antenatal
Neonatal| +457088 457088|Invasive candidiasis-deep dermatophytosis syndrome|-|Autosomal recessive|-|212050 +457095 457095|-|Unknown|Not applicable|All ages| +457185 457185|COQ4-related neonatal encephalomyopathy|<1 / 1 000 000|Autosomal recessive|Neonatal|616276 +457193 457193|-|<1 / 1 000 000|Autosomal dominant|Neonatal
Infancy|616268 +457205 457205|ANOAC
Axonal neuropathy-optic atrophy-cognitive deficit syndrome|<1 / 1 000 000|Autosomal recessive|Infancy| +457212 457212|-|<1 / 1 000 000|Autosomal recessive|Adolescent
Adult|616269 +457223 457223|Syndromic sensorineural deafness due to COXPD
Syndromic sensorineural hearing loss due to COXPD|<1 / 1 000 000|Autosomal recessive|Neonatal| +457240 457240|-|<1 / 1 000 000|X-linked recessive|Infancy
Childhood
Adolescent|300957 +457246 457246|CCSK|-|Not applicable|Infancy
Childhood
Adolescent
Adult| +457252 457252|OTSCC
Oral tongue squamous cell carcinoma|-|Not applicable|-| +457260 457260|-|<1 / 1 000 000|X-linked dominant|Childhood
Adolescent|300958 +457265 457265|EPM9
PME type 9
Progressive myoclonic epilepsy due to LMNB2 deficiency
Progressive myoclonus epilepsy type 9|<1 / 1 000 000|Autosomal recessive|Childhood|616540 +457279 457279|-|<1 / 1 000 000|Autosomal dominant|Neonatal
Infancy|616355 +457284 457284|-|<1 / 1 000 000|Autosomal dominant|Neonatal
Infancy|616362 +457351 457351|Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|616577 +457359 457359|-|<1 / 1 000 000|Autosomal recessive|Neonatal|617011 +457365 457365|-|<1 / 1 000 000|Unknown|Neonatal
Infancy| +457375 457375|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|616647 +457378 457378|Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type|<1 / 1 000 000|Autosomal recessive|Antenatal|616897 +457395 457395|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|616723 +457406 457406|-|<1 / 1 000 000|Autosomal recessive|Infancy|616370 +457485 457485|MINDS syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|616638 +458718 458718|Idiopathic SCAD|Unknown|Not applicable|Adult|122455 +458758 458758|-|<1 / 1 000 000|Not applicable|-| +458763 458763|-|<1 / 1 000 000|Not applicable|Adolescent
Adult| +458768 458768|Dabska tumor|<1 / 1 000 000|Not applicable|Infancy
Childhood
Adolescent
Adult
Elderly| +458775 458775|-|-|-|-| +458785 458785|-|-|Not applicable|-| +458792 458792|Mixed cystic lymphangioma|-|Not applicable|-| +458798 458798|SCA41|<1 / 1 000 000|Autosomal dominant|Adult|616410 +458803 458803|SCA42|<1 / 1 000 000|Autosomal dominant|Childhood
Adolescent
Adult
Elderly|616795 +458827 458827|-|-|-|-| +458830 458830|-|-|-|-| +458833 458833|-|-|-|-| +458837 458837|-|-|-|-| +458841 458841|-|-|-|-| +458844 458844|-|-|-|-| +459033 459033|AOA4|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood|616267 +459051 459051|SED, Stanescu type|-|Autosomal dominant|-|616583 +459056 459056|SPG75|<1 / 1 000 000|Autosomal recessive|Childhood|616680 +459061 459061|Developmental delay-short stature-dysmorphic features-sparse hair syndrome|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|616901 +459070 459070|-|<1 / 1 000 000|X-linked recessive|Neonatal
Infancy| +459074 459074|7q36.3 microduplication syndrome
Dup(7)(q36.3)|<1 / 1 000 000|Unknown|Neonatal
Infancy| +459345 459345|-|-|-|-| +459348 459348|-|-|-|-| +459353 459353|-|-|Autosomal dominant|-|120790 +459526 459526|-|-|-|-| +459530 459530|Troncular lymphatic malformation|-|-|-| +459537 459537|Hemangiolymphangioma|-|-|-| +459543 459543|-|-|-|-| +459548 459548|-|-|-|-| +459787 459787|-|-|-|-| +46 46|ADSL deficiency
Adenylosuccinase deficiency|<1 / 1 000 000|Autosomal recessive|Childhood
Neonatal
Infancy|103050 +46059 46059|Sterol C5-desaturase deficiency|<1 / 1 000 000|Autosomal recessive|Neonatal|607330 +461 461|RXLI
Steroid sulfatase deficiency
X-linked ichthyosis
XLI|1-5 / 10 000|X-linked recessive|Neonatal|300001 308100 +46135 46135|PCNSL
Primary CNS lymphoma
Primary brain lymphoma|-|Not applicable|-| +463 463|-|-|-|-| +46348 46348|Familial rectal pain|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|167400 +464 464|Bloch-Siemens syndrome
Bloch-Sulzberger syndrome|1-9 / 1 000 000|X-linked dominant|Neonatal|308300 +464282 464282|SPPRS syndrome
Spastic paraplegia-psychomotor retardation-seizures syndrome|<1 / 1 000 000|Autosomal recessive|Infancy|616756 +464288 464288|-|-|Autosomal recessive|-|617157 +464306 464306|-|<1 / 1 000 000|Not applicable
or Autosomal dominant
or Unknown|Infancy|614104 +464311 464311|DYRK1A-related intellectual disability syndrome due to a point mutation|-|-|-| +464318 464318|-|-|Not applicable|-| +464321 464321|Cutaneovisceral angiomatosis-thrombocytopenia syndrome
MLT
Multifocal lymphangioendotheliomatosis with thrombocytopenia|-|Not applicable|-| +464329 464329|-|-|Not applicable|-| +464336 464336|B-cell expansion with NF-kB and T-cell anergy disease|-|Autosomal dominant|-|616452 +464343 464343|CAPS
Catastrophic APS|-|Not applicable|-| +464359 464359|-|-|Not applicable|-| +464366 464366|Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome|-|Autosomal recessive|-|617022 +464370 464370|-|-|-|-| +464440 464440|-|<1 / 1 000 000|Autosomal recessive|Childhood
Adult|616411 +464443 464443|CDG syndrome type IIL
CDG-IIL
CDG2L
Congenital disorder of glycosylation type 2l
Congenital disorder of glycosylation type IIL|<1 / 1 000 000|Autosomal recessive|Neonatal|614576 +464453 464453|Drug-induced methemoglobinemia|-|Not applicable|-| +464458 464458|Acetaminophen poisoning|-|-|-| +464724 464724|-|<1 / 1 000 000|Autosomal recessive|Infancy|616483 +464738 464738|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|616449 +464756 464756|-|<1 / 1 000 000|Autosomal recessive|Adult| +464760 464760|Familial CODA|<1 / 1 000 000|Autosomal dominant|Adolescent
Adult
Childhood|611543 +464764 464764|-|-|-|-| +46484 46484|-|Unknown|Multigenic/multifactorial
or Not applicable|Adult| +46485 46485|-|1-9 / 100 000|Not applicable|All ages| +46486 46486|Cicatricial pemphigoid
Mucosal pemphigoid
Mucosynechial pemphigoid|Unknown|Not applicable|Adult|164185 +46487 46487|Epidermolysis bullosa acquisita|Unknown|Not applicable|Adult| +46488 46488|-|-|-|-| +46489 46489|BSLE|<1 / 1 000 000|Not applicable|Adult| +465 465|Congenital PAI-1 deficiency|Unknown|Autosomal recessive|Infancy
Childhood
Adolescent
Adult|613329 +46532 46532|HPFH-beta-thalassemia syndrome|Unknown|Autosomal dominant|Childhood|141749 142335 142470 305435 613566 +465508 465508|Symptomatic form of HFE-related hereditary hemochromatosis
Symptomatic form of classic hemochromatosis|-|Autosomal recessive|-|235200 +465824 465824|-|-|Autosomal recessive|-|613630 +466 466|-|<1 / 1 000 000|Autosomal dominant|Adult|600072 +466026 466026|Class I G6PD deficiency
Severe hemolytic anemia due to G6PD deficiency|-|X-linked recessive|-|300908 +466066 466066|-|-|-|-| +466084 466084|-|-|-|-| +46627 46627|Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|169100 +466650 466650|-|-|-|-| +466658 466658|-|-|-|-| +466670 466670|-|-|-|-| +466677 466677|-|-|-|-| +466682 466682|Euthyroid Graves ophthalmopathy|-|-|-| +466688 466688|-|-|-|-| +466695 466695|-|-|-|-| +466703 466703|CDG syndrome type IIp
CDG-IIp
CDG2P
Carbohydrate deficient glycoprotein syndrome type IIp
Congenital disorder of glycosylation type 2p
Congenital disorder of glycosylation type IIp|-|-|-| +466718 466718|MCRPE|-|-|-| +466722 466722|SPG77|-|-|-| +466729 466729|-|-|Autosomal dominant|-|607411 617035 617039 +466732 466732|Gillessen-Kaesbach-Nishimura syndrome|-|-|-| +466768 466768|Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation
CMT2Z|-|-|-| +466775 466775|ARCMT2X
Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation
CMT2X|-|-|-| +466784 466784|COXPD28
Combined oxidative phosphorylation deficiency type 28|-|-|-| +466791 466791|-|-|-|-| +466794 466794|Autosomal recessive spinocerebellar ataxia type 21
SCAR21|-|-|-| +466801 466801|LGMD2W|-|-|-| +466806 466806|-|-|-|-| +466921 466921|-|-|-|-| +466926 466926|SSM syndrome|-|-|-| +466934 466934|VPS11-related autosomal recessive hypomyelinating leukoencephalopathy|-|-|-| +466943 466943|-|-|-|-| +466950 466950|-|-|-|-| +466962 466962|SMARCA4-deficient thoracic sarcoma|-|-|-| +467 467|Congenital combined pituitary hormone deficiency
Congenital hypopituitarism|1-5 / 10 000|-|All ages| +467166 467166|Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome|-|-|-| +467176 467176|-|-|-|-| +46724 46724|Intracranial arteriovenous malformation|1-9 / 100 000|No data available|All ages|108010 +468620 468620|-|-|Autosomal recessive|-|617171 +468631 468631|-|-|-|-| +468635 468635|CMUSE|-|-|-| +468641 468641|CEAS|-|-|-| +468661 468661|SPG74|-|-|-| +468666 468666|-|-|-|-| +468672 468672|MACOM syndrome|-|-|-| +468678 468678|-|-|-|-| +468684 468684|CDG syndrome type IIo
CDG-IIo
CDG2o
Carbohydrate deficient glycoprotein syndrome type IIo
Congenital disorder of glycosylation type 2o
Congenital disorder of glycosylation type IIo|-|-|-| +468699 468699|CDG syndrome type 2n
CDG syndrome type IIn
CDG-IIn
CDG2n
Carbohydrate deficient glycoprotein syndrome type IIn
Congenital disorder of glycosylation type 2n
Congenital disorder of glycosylation type IIn
SLC39A8 deficiency|-|-|-| +468717 468717|-|-|-|-| +468726 468726|-|-|Autosomal recessive|-|602079 +469 469|Hereditary fructose-1-phosphate aldolase deficiency
Hereditary fructosemia|1-9 / 100 000|Autosomal recessive|All ages|229600 +47 47|BTK-deficiency
Bruton type agammaglobulinemia|1-9 / 1 000 000|X-linked recessive
or Not applicable|Childhood|300310 300755 +470 470|Hyperdibasic aminoaciduria type 2
LPI|Unknown|-|Infancy
Neonatal|222700 +47044 47044|HPRCC|-|Autosomal dominant|Adult|605074 +47045 47045|FCAS
FCU
Familial cold autoinflammatory syndrome|Unknown|Autosomal dominant|Infancy
Childhood
Adolescent|120100 616115 +47159 47159|Renal tubular acidosis type 2
pRTA|Unknown|Autosomal dominant
or Autosomal recessive
or Not applicable|All ages|179830 604278 +472 472|Cystoisosporiasis|Unknown|Not applicable|All ages| +474 474|Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy|Unknown|Autosomal recessive|Neonatal
Antenatal|208500 611263 613091 613819 614376 615630 615633 616300 +475 475|CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome|1-9 / 100 000|Autosomal recessive|Neonatal
Antenatal|213300 610688 612291 614173 614424 614464 614615 614970 615636 616490 616654 616781 616784 617120 617121 +47612 47612|Splenomegaly-neutropenia-rheumatoid arthritis syndrome|Unknown|Unknown|Adult|134750 +477 477|KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Senter syndrome|<1 / 1 000 000|Autosomal dominant
or Not applicable|Neonatal|148210 242150 602540 +478 478|Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence|1-9 / 100 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Childhood|147950 244200 308700 610628 612370 612702 614837 614838 614840 614858 614880 614897 615266 615267 615269 615270 615271 616030 +48 48|Congenital bilateral agenesis of vas deferens
Congenital bilateral aplasia of vas deferens|1-5 / 10 000|X-linked recessive
or Autosomal recessive|Adolescent
Adult|277180 300985 +480 480|-|1-9 / 100 000|Autosomal recessive
or Not applicable
or Mitochondrial inheritance|Childhood
Adolescent
Adult|530000 +481 481|SBMA
SMAX1-related spinobulbar muscular atrophy
X-linked BSMA
X-linked bulbospinal amyotrophy
X-linked bulbospinal muscular atrophy
X-linked spinal and bulbar muscular atrophy|1-9 / 100 000|X-linked recessive|Adult|313200 +48104 48104|-|Unknown|Unknown|Childhood
Adolescent
Adult
Elderly| +48162 48162|MADSAM
Multifocal acquired demyelinating sensory and motor neuropathy|1-9 / 1 000 000|Not applicable|All ages| +482 482|Eosinophilic lymphogranuloma|<1 / 1 000 000|Unknown|Adult| +483 483|-|-|Autosomal recessive|-|228960 +48372 48372|Non-cirrhotic nodulation|Unknown|Not applicable|Adult| +48377 48377|Pustulosis subcornealis
Sneddon-Wilkinson disease
Subcorneal pustular dermatitis|Unknown|Not applicable|Adult| +48431 48431|CCFDN|Unknown|Autosomal recessive|Infancy
Neonatal|604168 +48435 48435|-|Unknown|Not applicable|All ages| +48471 48471|-|-|-|Infancy
Neonatal| +485 485|-|Unknown|Autosomal dominant|Infancy
Neonatal|156550 +486 486|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|202700 257100 613107 +48652 48652|22q13 deletion
Phelan-McDermid syndrome|Unknown|Not applicable
or Unknown|Infancy
Neonatal|606232 +48686 48686|Body cavity-based lymphoma
PEL|Unknown|-|Adult| +487 487|GALC deficiency
Galactocerebrosidase deficiency
Galactosylceramidase deficiency
Globoid cell leukodystrophy|1-9 / 100 000|Autosomal recessive|Neonatal
Infancy
Childhood
Adolescent
Adult|245200 611722 +48736 48736|Embryonal carcinoma of the CNS|-|-|-| +488 488|-|Unknown|Not applicable|-| +48818 48818|Hereditary ceruloplasmin deficiency|<1 / 1 000 000|Autosomal recessive|Adult|604290 +48918 48918|Focal nodular myositis
Inflammatory pseudotumor of skeletal muscle|<1 / 1 000 000|Not applicable|Adult| +49 49|Aphallia
Penis agenesis|<1 / 1 000 000|-|Antenatal
Neonatal| +490 490|-|-|-|-| +49041 49041|Ormond disease
Retroperitoneal fibrosis|1-9 / 100 000|Not applicable
or Unknown|Adult|228800 +49042 49042|DGI
DGI without OI
DI
Dentinogenesis imperfecta without osteogenesis imperfecta
Non-syndromic DGI
Non-syndromic dentinogenesis imperfecta
Opalescent teeth without OI
Opalescent teeth without osteogenesis imperfecta|1-5 / 10 000|Autosomal dominant|Childhood| +492 492|-|-|-|Adult| +493 493|Hereditary keratoacanthoma
Multiple keratoacanthoma|-|Autosomal dominant|All ages| +49382 49382|ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal|216900 262300 610024 613093 613856 616517 +494 494|Mutilating keratoderma of Vohwinkel
Mutilating keratoderma plus deafness
PPK mutilans and deafness
Vohwinkel syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|124500 +495 495|Greither disease
Keratosis extremitatum hereditaria progrediens
Keratosis palmoplantaris transgrediens et progrediens
Progressive diffuse PPK
Progressive diffuse palmoplantar keratoderma
Transgrediens et progrediens PPK|-|-|-|133200 +49566 49566|-|-|Not applicable|Infancy
Neonatal| +498 498|-|-|-|-| +49804 49804|Amyloid lichen
Lichen amyloidosus|-|-|-| +49827 49827|Rogers syndrome
TRMA
Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|<1 / 1 000 000|Autosomal recessive|Childhood|249270 +499 499|-|Unknown|Not applicable|All ages| +5 5|LCHAD deficiency
LCHADD|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal|609016 +50 50|Corpus callosum agenesis of with chorioretinal abnormality|Unknown|X-linked dominant|Neonatal|304050 +500 500|Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome|Unknown|Autosomal dominant|Childhood|151100 611554 613707 +501 501|EPM2
PME type 2
Progressive myoclonic epilepsy type 2
Progressive myoclonus epilepsy type 2|1-9 / 1 000 000|Autosomal recessive|Adolescent|254780 +502 502|Deletion 8q24.1
Monosomy 8q24.1
Trichorhinophalangeal syndrome type 2|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal
Childhood|150230 +50251 50251|-|1-9 / 100 000|Not applicable|All ages|156240 +503 503|-|1-9 / 1 000 000|Autosomal dominant|Infancy
Neonatal|150250 +504 504|Migratory myiasis|-|Not applicable|-| +505 505|Graham Little syndrome
Piccardi-Lassueur-Little syndrome|Unknown|-|Adult| +506 506|Infantile subacute necrotizing encephalopathy
Leigh disease|1-9 / 100 000|Autosomal recessive
or X-linked recessive
or Mitochondrial inheritance|All ages|256000 +507 507|-|1-9 / 1 000 000|Not applicable|All ages|608207 +508 508|Donohue syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|246200 +50809 50809|Singh-Williams-McAlister syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|609655 +50810 50810|Basel-Vanagaite-Sirota syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +50811 50811|Rajab-Spranger syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|608154 +50812 50812|Ahn-Lerman-Sagie syndrome|<1 / 1 000 000|Autosomal recessive
or Mitochondrial inheritance|Childhood| +50814 50814|Boyadjiev-Jabs syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|607812 +50815 50815|Mégarbané-Loiselet syndrome|<1 / 1 000 000|Autosomal dominant|Antenatal
Neonatal|609166 +50817 50817|Verloes-Deprez syndrome|<1 / 1 000 000|Autosomal recessive|Childhood| +50839 50839|Bartonellosis due to Bartonella henselae infection|1-9 / 100 000|Not applicable|All ages| +509 509|-|1-9 / 1 000 000|Not applicable|All ages| +50918 50918|Histiocytic necrotizing lymphadenitis
Kikuchi disease|Unknown|-|Adult| +50920 50920|Mammary polyadenomatosis|Unknown|Unknown|Adult|615554 +50942 50942|Keratosis palmoplantaris striata et areata
Keratosis palmoplantaris varians of Wachters
Striate palmoplantar keratoderma|-|Autosomal dominant|-|148700 607654 612908 +50943 50943|Erythrokeratolysis hiemalis
Oudtshoorn disease|-|Autosomal dominant|-|148370 +50944 50944|Eccrine tumors-ectodermal dysplasia
Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome
Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome
Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome
SSPS|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Childhood
Adolescent|224750 +50945 50945|BLC
BOCD
Blomstrand chondrodysplasia
Blomstrand osteochondrodysplasia
Chondrodysplasia, Blomstrand type|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|215045 +51 51|Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|114100 225750 610181 610329 610333 612952 615010 615846 +510 510|HPRT complete deficiency
HPRT deficiency grade IV
Hypoxanthine guanine phosphoribosyltransferase complete deficiency
Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV|1-9 / 1 000 000|X-linked recessive|Infancy|300322 308950 +51083 51083|SQTS|Unknown|Autosomal dominant|All ages|609620 609621 609622 +51084 51084|-|-|-|-|613600 +511 511|BCKD deficiency
BCKDH deficiency
Branched-chain 2-ketoacid dehydrogenase deficiency
Branched-chain ketoaciduria
MSUD|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal
Childhood|248600 615135 +51188 51188|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|602473 +512 512|Arylsulfatase A deficiency
MLD|1-9 / 1 000 000|Autosomal recessive|Childhood
Adolescent
Adult
Infancy|156310 249900 250100 +51208 51208|FTCD deficiency
Formiminotransferase cyclodeaminase deficiency
Glutamate formiminotransferase deficiency|Unknown|Autosomal recessive|Childhood|229100 +513 513|ALL
Acute lymphoblastic leukemia/lymphoma
Acute lymphocytic leukemia|1-5 / 10 000|-|All ages|247640 613065 613067 +514 514|AML M5
Acute monocytic leukemia|1-9 / 1 000 000|Not applicable|Childhood| +51577 51577|Lissencephaly type 2|Unknown|Autosomal recessive|Infancy
Neonatal| +51608 51608|Idiopathic infantile arterial calcification
Idiopathic obliterative arteriopathy
Infantile arteriosclerosis
Occlusive infantile arteriopathy|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|208000 614473 +51636 51636|WILM
Warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Warts-infections-leukopenia-myelokatexis syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive
or Not applicable|Childhood
Adolescent
Adult|193670 +517 517|AML M4
AMMoL|1-9 / 1 000 000|Not applicable|Adult| +518 518|AMKL
AML M7
Acute megakaryocytic leukemia
Acute myeloid leukemia M7|<1 / 1 000 000|Not applicable|Childhood| +519 519|AML
Acute myelogenous leukemia|1-9 / 100 000|-|All ages|601626 +52 52|Alagille-Watson syndrome
Arteriohepatic dysplasia
Syndromic bile duct paucity|Unknown|Autosomal dominant|All ages|118450 610205 +520 520|AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants|Unknown|-|Adult|612376 +52022 52022|11p11.2 deletion
Proximal 11p deletion syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal|601224 +52047 52047|Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency|<1 / 1 000 000|Autosomal recessive|Neonatal|608406 +52054 52054|Longman-Tolmie syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|608432 +52055 52055|Graham-Cox syndrome|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300472 +52056 52056|Morava-Mehes syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|608571 +521 521|CML
Chronic granulocytic leukemia
Chronic myelogenous leukemia|1-9 / 100 000|Not applicable|Adult|608232 +52183 52183|-|-|-|-|251200 +523 523|Familial leiomyomatosis and renal cell cancer
Familial leiomyomatosis cutis et uteri
Familial leiomyomatosis with renal carcinoma
Familial multiple cutaneous leiomyomas
HLRCC
Hereditary leiomyomatosis
Hereditary leiomyomatosis with renal carcinoma
Hereditary multiple cutaneous leiomyomas
MCUL
Multiple cutaneous and uterine leiomyomas
Reed syndrome|Unknown|Autosomal dominant|Adolescent
Adult
Elderly|150800 +52368 52368|DDON syndrome
Deafness-dystonia-optic neuronopathy syndrome|<1 / 1 000 000|X-linked recessive|Childhood|304700 +524 524|-|1-9 / 100 000|Autosomal dominant|All ages|151623 609265 609266 +52416 52416|LCM
MCL
Mantle zone lymphoma|1-9 / 100 000|Multigenic/multifactorial
or Not applicable|Adult| +52417 52417|Extranodal marginal zone B-cell lymphoma
MALToma
Mucosa-associated lymphatic tissue lymphoma
Mucosa-associated lymphoid tissue lymphoma|1-9 / 100 000|Multigenic/multifactorial
or Not applicable|Adult|137245 +52427 52427|-|-|Autosomal recessive
or Autosomal dominant|Childhood|136880 +52429 52429|-|-|Autosomal dominant|-|120502 602588 608389 +52430 52430|IBMPFD
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome|<1 / 1 000 000|Autosomal dominant|Adult|167320 615422 615424 +525 525|Follicular lichen planus
LPP
Lichen follicularis
Lichen planus follicularis|Unknown|Not applicable|Adult| +52503 52503|Creatine transporter deficiency
SLC6A8 deficiency|Unknown|X-linked recessive
or Not applicable|Infancy
Childhood|300352 +52530 52530|PT-VWD
Pseudo-von Willebrand disease type 2B|<1 / 1 000 000|Autosomal dominant|-|177820 +526 526|Pseudoaldosteronism
Pseudohyperaldosteronism type 1|<1 / 1 000 000|Autosomal dominant|Childhood|177200 +52662 52662|Acquired embryofetopathy|-|-|-| +52688 52688|-|1-9 / 100 000|-|All ages|614286 +52759 52759|Systemic vasculitis|1-9 / 100 000|-|-| +528 528|BSCL
Beradinelli-Seip syndrome
Brunzell syndrome
GCL
Generalized congenital lipodystrophy
Lipoatrophic diabetes|1-9 / 1 000 000|Autosomal recessive|Neonatal|269700 608594 612526 +529 529|-|Unknown|Autosomal dominant|No data available| +52901 52901|Isolated FSH deficiency|Unknown|Autosomal recessive|Adolescent
Adult|229070 +52994 52994|-|<1 / 1 000 000|Unknown|Adult| +53 53|Osteopetrosis autosomal dominant type 2|1-9 / 100 000|Autosomal dominant|Childhood|166600 +530 530|Hyalinosis cutis et mucosae
Urbach-Wiethe disease|Unknown|Autosomal recessive|All ages|247100 +53035 53035|-|Unknown|Autosomal recessive
or Not applicable|All ages|600643 +531 531|Lissencephaly due to 17p13.3 deletion
Monosomy 17p13.3
Telomeric deletion 17p|Unknown|Autosomal dominant|Infancy
Neonatal|247200 +53271 53271|-|Unknown|Autosomal dominant|Infancy
Neonatal|602849 +53296 53296|-|-|Autosomal dominant|-|115250 +533 533|-|Unknown|Not applicable|All ages| +53347 53347|-|Unknown|Autosomal recessive
or Autosomal dominant|Adult|601003 +53351 53351|DYT3
Lubag
Lubag syndrome
XDP|<1 / 1 000 000|X-linked recessive
or Not applicable|Adult|314250 +53372 53372|Familial trembling of the chin
Hereditary chin myoclonus
Hereditary chin-trembling|Unknown|Autosomal dominant|Childhood|190100 +534 534|Lowe disease
Lowe oculo-cerebro-renal syndrome
Lowe syndrome
OCR
OCRL
Oculo-cerebro-renal dystrophy
Oculo-cerebro-renal syndrome
Oculocerebrorenal dystrophy
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|1-9 / 1 000 000|X-linked recessive|Neonatal|309000 +535 535|-|1-5 / 10 000|Multigenic/multifactorial|All ages| +53540 53540|Enhanced S-cone syndrome
Retinoschisis with early nyctalopia|<1 / 1 000 000|Autosomal recessive|Adolescent
Childhood|268100 +53583 53583|DYT9
Episodic choreoathetosis/spasticity|-|-|-|601042 +53689 53689|-|-|Autosomal recessive|-|214700 +53690 53690|-|-|Autosomal recessive|-|223000 +53691 53691|-|-|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|121400 217300 +53693 53693|Fellman disease
Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|603358 +53696 53696|LAAHD
Vuopala disease|-|Autosomal recessive|-|611890 +53697 53697|GDD|-|Autosomal dominant|-|166260 +53698 53698|-|-|Autosomal dominant
or Autosomal recessive|-|255160 608358 +537 537|-|Unknown|Not applicable|All ages| +53715 53715|-|Unknown|Autosomal recessive|Childhood|211900 610455 +53719 53719|Bonnet-Dechaume-Blanc syndrome
CAMS2
Cerebrofacial arteriovenous metameric syndrome type 2|<1 / 1 000 000|Not applicable|Childhood
Neonatal
Infancy| +53721 53721|Cutaneomeningospinal angiomatosis
SAMS 1-31
Spinal arteriovenous metameric syndrome|<1 / 1 000 000|Not applicable|All ages| +53739 53739|Distal spinal muscular atrophy
dHMN
dSMA|-|-|-| +538 538|LAM|1-9 / 1 000 000|Not applicable|Adult|606690 +54 54|OA1
Ocular albinism type 1
Ocular albinism, Nettleship-Falls type
XLOA|1-9 / 1 000 000|X-linked recessive|Infancy
Neonatal|300500 +540 540|Familial HLH|Unknown|Autosomal recessive|Infancy
Adolescent|267700 603552 603553 608898 613101 +54028 54028|Kelly-Paterson syndrome
Sideropenic dysphagia|<1 / 1 000 000|Unknown|Adult| +54057 54057|Moschcowitz disease
TTP|1-5 / 10 000|Autosomal recessive
or Multigenic/multifactorial|All ages|274150 +541 541|Primary cutaneous Ki-1+ T-cell lymphoproliferative disease|Unknown|-|Adult| +542 542|-|1-9 / 100 000|-|-| +54247 54247|Benson syndrome
Biparietal Alzheimer disease
PCA|Unknown|Unknown|Adult| +54251 54251|Aseptic abscesses syndrome
Aseptic systemic abscesses
Disseminated aseptic abscesses|<1 / 1 000 000|Not applicable|Adolescent
Adult| +54260 54260|LVNC
Left ventricular hypertrabeculation
Spongy myocardium|-|Autosomal dominant
or X-linked recessive
or Mitochondrial inheritance|All ages|601493 601494 604169 609470 611878 613424 613426 615092 615373 615396 +54272 54272|-|Unknown|-|Adult| +543 543|Small non-cleaved cell lymphoma|Unknown|Not applicable|All ages|113970 +54368 54368|Sarcosporidiosis|-|-|-| +54370 54370|MPGN
Mesangiocapillary glomerulonephritis|1-5 / 10 000|-|-|305800 609814 614809 615008 +544 544|DLBCL|1-5 / 10 000|Multigenic/multifactorial
or Not applicable|Adult| +545 545|-|1-5 / 10 000|Multigenic/multifactorial
or Not applicable|Adult|613024 +54595 54595|-|1-9 / 100 000|Not applicable|All ages| +547 547|NHL|1-5 / 10 000|-|Adult|605027 +548 548|-|Unknown|Multigenic/multifactorial|All ages|246300 607572 609888 610988 613223 613407 +549 549|Legionnaires disease|-|Not applicable|All ages| +55 55|OCA|1-9 / 100 000|Autosomal recessive|Neonatal| +550 550|Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes|1-9 / 1 000 000|Mitochondrial inheritance
or Not applicable|Adolescent
Adult
Childhood|540000 +551 551|Fukuhara syndrome
Myoclonus epilepsy associated with ragged-red fibres|Unknown|Mitochondrial inheritance|Childhood
Adult|545000 +552 552|Maturity-onset diabetes of the young|1-5 / 10 000|Autosomal dominant
or Not applicable|Childhood
Adolescent
Adult|125850 125851 600496 606391 606392 606394 609812 610508 612225 613370 613375 616329 616511 +553 553|Cushing's syndrome
Hyperadrenocorticism
Hypercortisolism|1-9 / 100 000|Autosomal dominant
or Not applicable|All ages| +55595 55595|LGMD1F|<1 / 1 000 000|Autosomal dominant|Adult
Infancy
Childhood
Adolescent|608423 +55596 55596|LGMD1G|<1 / 1 000 000|Autosomal dominant|Adult
Adolescent|609115 +556 556|-|Unknown|Unknown|Adult| +55654 55654|Hereditary hypotrichosis simplex|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Childhood|278150 604379 605389 607903 614237 614238 615059 615885 +55655 55655|-|-|-|-| +557 557|-|1-5 / 10 000|-|Neonatal
Antenatal|107100 207500 301800 +558 558|MFS|1-5 / 10 000|Autosomal dominant|All ages|154700 610168 +55880 55880|-|1-9 / 100 000|Unknown
or Not applicable|Adult|215300 +55881 55881|Adamantinoma of long bones|Unknown|Not applicable|Adolescent
Childhood
Adult|102660 +559 559|-|<1 / 1 000 000|Autosomal recessive|Childhood|248800 +56 56|Hereditary ochronosis
Homogentisic acid oxidase deficiency|1-9 / 1 000 000|Autosomal recessive|Adult
Infancy|203500 +560 560|-|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Neonatal|154780 +56044 56044|Carcinoma of gallbladder and EBT|1-5 / 10 000|Not applicable|Adult| +561 561|Accelerated skeletal maturation-peculiar facies-failure to thrive syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal|602535 +562 562|Gonadotropin-independent female-limited sexual precocity|1-9 / 1 000 000|Not applicable|Childhood|174800 +563 563|Postpartum cardiomyopathy|Unknown|Unknown|Adult| +56304 56304|Atelosteogenesis type 2
De la Chapelle dysplasia
Neonatal osseous dysplasia type 1|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|256050 +56305 56305|AO3
AOIII
Atelosteogenesis type 3|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal|108721 +564 564|Meckel-Gruber syndrome|<1 / 1 000 000|Autosomal recessive|Antenatal|249000 603194 607361 611134 611561 612284 613885 614175 614209 615397 +56425 56425|CAD
CAS
Chronic cold agglutinin disease
Cold agglutinin syndrome|1-9 / 1 000 000|Multigenic/multifactorial|Adult| +565 565|Kinky hair disease
Kinky hair syndrome
MD
MK
MNK
Menkes syndrome
Steely hair disease
Steely hair syndrome
Trichopoliodystrophy
X-linked copper deficiency|Unknown|X-linked recessive|Neonatal|309400 +566 566|Congenital miosis|Unknown|Autosomal dominant|Infancy
Neonatal|156600 +567 567|22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome|Unknown|Autosomal dominant
or Not applicable
or Unknown|Neonatal|188400 192430 +568 568|Lenz microphthalmia|Unknown|X-linked recessive|Neonatal|300166 309800 +569 569|-|1-5 / 10 000|Autosomal dominant|Childhood|141500 602481 607516 609634 +56970 56970|TSE
Transmissible spongiform encephalopathy|1-9 / 1 000 000|-|Adult| +57 57|GSD due to aldolase A deficiency
GSD type 12
GSD type XII
Glycogen storage disease type 12
Glycogen storage disease type XII
Glycogenosis due to aldolase A deficiency
Glycogenosis type 12
Glycogenosis type XII|Unknown|Autosomal recessive|Neonatal|611881 +570 570|Congenital facial diplegia
Möbius syndrome|Unknown|Autosomal dominant|Neonatal|157900 +57145 57145|Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing|1-9 / 100 000|-|Adult| +57146 57146|-|-|-|-| +57194 57194|-|-|-|-| +57196 57196|-|-|-|-| +572 572|Bare lymphocyte syndrome type 2
HLA class 2-negative severe combined immunodeficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|209920 +573 573|Moniliform hair syndrome|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|158000 +574 574|21q deletion syndrome
21q- syndrome
Partial 21q monosomy|<1 / 1 000 000|-|Neonatal
Antenatal| +575 575|Neutrophilic urticaria|Unknown|Autosomal dominant|Childhood
Neonatal
Infancy|191900 +576 576|I-cell disease
N-acetylglucosamine 1-phosphotransferase deficiency|<1 / 1 000 000|Autosomal recessive|Neonatal|252500 +577 577|Pseudo-Hurler polydystrophy|Unknown|Autosomal recessive|Childhood|252600 252605 +57777 57777|-|Unknown|Not applicable|Adult| +57782 57782|Myxoma with fibrous dysplasia|<1 / 1 000 000|Not applicable|Adult| +578 578|-|Unknown|Autosomal recessive|Infancy|252650 +579 579|Alpha-L-iduronidase deficiency
MPS1
MPSI
Mucopolysaccharidosis type I|1-9 / 1 000 000|Autosomal recessive|All ages|607014 607015 607016 +58 58|AxD|Unknown|Autosomal dominant|All ages|203450 +580 580|Hunter syndrome
Iduronate 2-sulfatase deficiency
MPS2
MPSII
Mucopolysaccharidosis type II|1-5 / 10 000|X-linked recessive|Childhood|309900 +58017 58017|HCL
Leukemic reticuloendotheliosis|1-9 / 100 000|-|Adult| +58040 58040|-|-|-|-| +581 581|MPS3
MPSIII
Mucopolysaccharidosis type III
Sanfilippo disease|1-9 / 1 000 000|Autosomal recessive|Childhood|252900 252920 252930 252940 +582 582|MPS4
MPSIV
Morquio disease
Mucopolysaccharidosis type IV|1-5 / 10 000|Autosomal recessive|Childhood|252300 253000 253010 +583 583|ARSB deficiency
ASB deficiency
Arylsulfatase B deficiency
MPS6
MPSVI
Maroteaux-Lamy disease
Mucopolysaccharidosis type VI
N-acetylgalactosamine 4-sulfatase deficiency|1-9 / 1 000 000|Autosomal recessive|Childhood|253200 +584 584|Beta-glucuronidase deficiency
MPS7
MPSVII
Mucopolysaccharidosis type VII
Sly disease|<1 / 1 000 000|Autosomal recessive|Childhood|253220 +585 585|Juvenile sulfatidosis, Austin type
MSD
Mucosulfatidosis|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|272200 +586 586|CF
Mucoviscidosis|1-9 / 100 000|Autosomal recessive|All ages|219700 +587 587|Multiple keratoacanthoma, Muir-Torre type|Unknown|Autosomal dominant|Adult|158320 +588 588|MEB syndrome
Muscle-eye-brain syndrome
Santavuori congenital muscular dystrophy|Unknown|Autosomal recessive|Infancy
Neonatal|236670 253280 253800 613150 613153 613154 615181 615350 +589 589|Acquired myasthenia
Autoimmune myasthenia gravis|1-9 / 100 000|Not applicable
or Multigenic/multifactorial|All ages|159400 254200 607085 +59 59|AHDS
MCT8 deficiency
Monocarboxylate transporter 8 deficiency
X-linked intellectual disability-hypotonia syndrome|Unknown|X-linked recessive|Neonatal
Infancy|300523 +590 590|CMS|1-9 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|254190 254210 254300 601462 603034 605809 608930 608931 610542 614198 614750 615120 616040 616227 616228 616304 616313 616314 616321 616322 616323 616324 616325 616326 616330 616720 617143 +591 591|Furunculoid myiasis
Furunculous myiasis|Unknown|Not applicable|All ages| +59135 59135|Distal myopathy type 1
Gowers disease
MPD1|Unknown|Autosomal dominant|Childhood|160500 +59181 59181|-|Unknown|Autosomal dominant|Adult|136900 264420 +592 592|MMF|Unknown|-|Childhood
Adolescent
Adult
Elderly| +59298 59298|Myelinoclastic diffuse sclerosis
Schilder's disease|Unknown|-|Childhood|272100 +593 593|-|Unknown|Autosomal dominant
or Autosomal recessive|Adult| +59303 59303|IHSC
NISCH syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|607626 +59305 59305|GTN|Unknown|Not applicable|Adult| +59306 59306|MLS
X-linked McLeod syndrome|<1 / 1 000 000|X-linked recessive|Adult|300842 +59315 59315|-|<1 / 1 000 000|Not applicable|Infancy
Neonatal| +595 595|CNM|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Childhood| +596 596|Myotubular myopathy
XLCNM
XLMTM|1-9 / 1 000 000|X-linked recessive|Neonatal
Antenatal|310400 +597 597|-|1-9 / 1 000 000|Autosomal dominant|Childhood|117000 +598 598|MmD
Multiminicore disease|Unknown|Autosomal dominant
or Autosomal recessive|Antenatal
Neonatal
Infancy
Childhood|117000 255320 602771 +599 599|Distal muscular dystrophy|-|Autosomal dominant
or Autosomal recessive|All ages| +6 6|3-methylcrotonylglycinuria
MCC deficiency
MCCD|1-9 / 100 000|Autosomal recessive|All ages|210200 210210 +60 60|Deficiency in Alpa-1-proteinase inhibitor|1-5 / 10 000|Autosomal recessive|All ages|613490 +600 600|-|<1 / 1 000 000|Autosomal dominant|Adult|606070 +60014 60014|Silver staining|Unknown|Not applicable|Adult| +60015 60015|Catlin marks
Fenestrae parietales symmetricae
Foramina parietalia permagna
Hereditary cranium bifidum
Symmetric parietal foramina|1-9 / 100 000|Autosomal dominant|Antenatal
Neonatal|168500 609566 609597 +60025 60025|-|Unknown|Autosomal recessive
or Not applicable|All ages|265100 +60026 60026|Pulmonary pseudolymphoma|-|-|-|178610 +60030 60030|Aortic aneurysm syndrome due to TGF-beta receptors anomalies|Unknown|Autosomal dominant|Infancy
Neonatal|609192 610168 +60032 60032|-|-|-|Childhood
Adolescent
Adult| +60033 60033|-|-|-|-|211400 613021 613071 +60039 60039|Alcock syndrome
Pudendal algia
Pudendal nerve entrapment syndrome
Pudendal neuralgia by pudendal nerve entrapment
Pudendalgia|Unknown|Not applicable|Adult| +60040 60040|MCAP
MCM
MCMTC
Macrocephaly-capillary malformation syndrome
Macrocephaly-cutis marmorata telangiectatica congenita syndrome
Megalencephaly-capillary malformation syndrome
Megalencephaly-cutis marmorata telangiectatica congenita syndrome|<1 / 1 000 000|Not applicable|Infancy
Neonatal|602501 +60041 60041|Congenital atrioventricular block|-|Not applicable|Infancy
Neonatal|234700 +602 602|DMRV
Distal myopathy with rimmed vacuoles
Distal myopathy, Nonaka type
HIBM2
Hereditary inclusion body myopathy type 2
IBM2
Inclusion body myopathy type 2
Nonaka myopathy
Quadriceps-sparing myopathy|1-9 / 1 000 000|Autosomal recessive|Adolescent
Adult
Elderly|605820 +603 603|WDM|Unknown|Autosomal dominant|Adult|604454 +606 606|Myotonic dystrophy type 2
Proximal myotonic dystrophy
Ricker disease
Ricker syndrome|1-9 / 100 000|Autosomal dominant|Adult|602668 +607 607|NEM
NM
Nemaline rod myopathy|-|Autosomal dominant
or Autosomal recessive
or Not applicable|All ages| +609 609|Distal myopathy, Udd type
Distal titinopathy
Finnish tibial muscular dystrophy
TMD
Udd myopathy|1-9 / 100 000|Autosomal dominant
or Autosomal recessive|Adult|600334 +61 61|Lysosomal alpha-D-mannosidase deficiency|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal
Childhood|248500 +610 610|Benign autosomal dominant myopathy|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Childhood|158810 616471 +611 611|IBM
Sporadic inclusion body myositis
sIBM|1-9 / 1 000 000|Not applicable|Adult|147421 +612 612|K+-aggravated myotonia
K-aggravated myotonia
PAM|Unknown|Autosomal dominant|Childhood|608390 +614 614|Myotonia congenita|1-9 / 100 000|Autosomal dominant
or Autosomal recessive|Infancy
Childhood
Adolescent
Adult|160800 255700 +615 615|-|<1 / 1 000 000|Autosomal dominant|Adolescent
Adult|255960 +616 616|-|1-9 / 100 000|Not applicable|All ages|155255 +617 617|Congenital primary megalo-ureter|Unknown|Unknown|All ages| +618 618|-|Unknown|Autosomal dominant
or Multigenic/multifactorial|Adult|155600 155601 155700 608035 609048 613099 613972 615134 615848 +62 62|Alpha-sarcoglycanopathy
LGMD2D
Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency|Unknown|Autosomal recessive|Adolescent
Childhood|608099 +620 620|Universal mesentery|-|-|-| +621 621|Autosomal recessive methemoglobinemia
Congenital methemoglobinemia|Unknown|Autosomal recessive|Infancy
Neonatal|250700 250790 250800 +622 622|Functional methionine synthase deficiency
Methylcobalamin deficiency|<1 / 1 000 000|Autosomal recessive|All ages|236270 250940 277410 +624 624|Familial multiple port-wine stains|-|-|Neonatal|163000 +626 626|Congenital pigmented nevus
GMN
Giant congenital melanocytic nevus
Giant pigmented hairy nevus
LCMN|1-9 / 100 000|-|Infancy
Neonatal|137550 +627 627|-|Unknown|X-linked dominant|Neonatal|302350 +628 628|Diastrophic dysplasia|1-9 / 100 000|Autosomal recessive|Neonatal|222600 +629 629|Kowarski syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|262650 +63 63|Alport deafness-nephropathy|1-9 / 100 000|Autosomal dominant
or Autosomal recessive
or X-linked dominant|Childhood|104200 203780 301050 +631 631|Congenital IGHD
Congenital isolated GH deficiency
Congenital isolated growth hormone deficiency|1-5 / 10 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Neonatal|173100 262400 262650 300123 307200 612781 +632 632|-|-|X-linked recessive|Infancy
Neonatal|307200 +63259 63259|-|1-5 / 10 000|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +63260 63260|-|-|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +63261 63261|Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome|<1 / 1 000 000|Autosomal dominant|No data available|192315 +63273 63273|Distal ABD-filaminopathy|<1 / 1 000 000|Autosomal dominant|Adolescent
Adult|614065 +63275 63275|Gestational pemphigoid|-|-|-| +633 633|Complete growth hormone insensitivity
GH receptor deficiency
Growth hormone receptor deficiency
Laron-type dwarfism
Primary GH insensitivity
Primary GH resistance
Primary growth hormone insensitivity
Primary growth hormone resistance
Short stature due to growth hormone resistance|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal|262500 +634 634|Bamboo hair syndrome
Comèl-Netherton syndrome
NS|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal|256500 +63440 63440|Acrocephaly
Hypsicephaly
Hypsocephaly
Pyrgocephaly
Turricephaly|<1 / 1 000 000|Not applicable
or Autosomal dominant|Childhood|123100 616602 +63442 63442|ASPED|<1 / 1 000 000|Autosomal dominant|All ages|105835 +63443 63443|Rare gastric epithelial tumor|1-9 / 100 000|Multigenic/multifactorial
or Not applicable|Adult| +63446 63446|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|607778 +63454 63454|-|Unknown|Autosomal dominant
or Autosomal recessive|Adult| +63455 63455|-|<1 / 1 000 000|Not applicable|All ages| +635 635|-|1-5 / 10 000|Not applicable|Childhood|256700 613013 613014 613015 613016 613017 616792 +636 636|NF1
Von Recklinghausen disease|1-5 / 10 000|Autosomal dominant|Infancy
Neonatal|162200 162210 613675 +637 637|Bilateral acoustic neurofibromatosis
Central neurofibromatosis
NF2|1-9 / 100 000|Autosomal dominant|All ages|101000 +638 638|NFNS
Neurofibromatosis type 1-Noonan syndrome|Unknown|Autosomal dominant|Infancy
Neonatal|601321 +63862 63862|-|Unknown|Unknown
or Not applicable|Neonatal
Antenatal| +639 639|Anti-MAG neuropathy
Neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein|Unknown|Unknown|Adult| +63999 63999|Fibrosing mediastinitis
Mediastinal fibrosis
Sclerosing mediastinitis|-|Not applicable|-| +64 64|-|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal
Childhood
Adolescent
Adult|203800 +640 640|Current pressure-sensitive neuropathy
HNPP
Heterozygous microdeletion 17p11.2p12
Potato-grubbing palsy
Tomaculous neuropathy
Tulip-bulb digger's palsy|1-9 / 100 000|Autosomal dominant|All ages|162500 +641 641|MMN
MMNCB
Multifocal motor neuropathy with conduction block|1-9 / 100 000|Unknown|Adult| +642 642|HSAN4
Insensitivity to pain-anhidrosis syndrome|-|Autosomal recessive|Infancy
Neonatal
Childhood|256800 +64280 64280|Pyknolepsy|Unknown|Autosomal dominant|Childhood
Adolescent|600131 607681 611136 611942 612269 +643 643|GAN|Unknown|Autosomal recessive|Infancy
Childhood|256850 +644 644|Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
Neuropathy-ataxia-retinitis pigmentosa syndrome|1-9 / 100 000|Mitochondrial inheritance|Childhood|551500 +64542 64542|Kennedy-Teebi syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +64545 64545|-|-|-|-| +646 646|-|1-9 / 100 000|Autosomal recessive|All ages|257220 607625 +64686 64686|Painful ophthalmoplegia|-|-|-| +64692 64692|Bartonellosis due to Bartonella bacilliformis infection
Carrion disease|-|-|-| +64694 64694|Bartonellosis due to Bartonella quintana infection|-|-|-| +647 647|AT V1
Ataxia-telangiectasia, variant 1
Berlin breakage syndrome
Immunodeficiency-microcephaly-chromosomal instability syndrome
Microcephaly-immunodeficiency-lymphoreticuloma syndrome
NBS
Seemanova syndrome type 2|Unknown|Autosomal recessive|Infancy
Neonatal|251260 +64720 64720|-|-|-|-| +64722 64722|Idiopathic granulomatous mastitis|-|-|-| +64734 64734|ICE syndrome|Unknown|Not applicable|Adult| +64739 64739|OHSS|-|Not applicable|-|608115 +64740 64740|-|1-5 / 10 000|Not applicable|All ages| +64741 64741|Pneumoblastoma|Unknown|Multigenic/multifactorial|Adult| +64742 64742|-|Unknown|Autosomal dominant
or Not applicable|Infancy
Neonatal|601200 +64743 64743|Obliterative portal venopathy|Unknown|-|All ages| +64744 64744|Riedel disease
Riedel thyroiditis|Unknown|Not applicable|-| +64745 64745|Polymorphic eruption of pregnancy|-|-|-|178995 +64746 64746|Autosomal dominant axonal Charcot-Marie-Tooth disease
CMT2
Hereditary motor and sensory neuropathy type 2|1-5 / 10 000|Autosomal dominant|All ages| +64747 64747|CMTX|1-9 / 100 000|X-linked recessive
or X-linked dominant|-| +64748 64748|Charcot-Marie-Tooth disease type 3
HMSN 3
HMSN III
Hereditary motor and sensory neuropathy type 3
Hereditary motor and sensory neuropathy type III|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive
or Not applicable|Infancy|145900 +64749 64749|AR-CMT1
Autosomal recessive demyelinating Charcot-Marie-Tooth
CMT4|1-5 / 10 000|Autosomal recessive|Childhood| +64751 64751|Charcot-Marie-Tooth disease-pyramidal features syndrome
HMSN 5|-|-|Adult|600361 +64752 64752|Congenital insensitivity to pain and thermal analgesia
HSAN5|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|608654 +64753 64753|AOA2
Ataxia-oculomotor apraxia type 2
SCAN 2
SCAR1|-|Autosomal recessive|Childhood|606002 615217 +64754 64754|-|-|Not applicable|-|617025 +64755 64755|Pigmentary hairy epidermal nevus|-|-|-|604919 +648 648|-|Unknown|Autosomal dominant|Neonatal|163950 605275 609942 610733 611553 613224 613706 615355 616559 616564 +649 649|Atrophia bulborum hereditaria
Episkopi blindness
Norrie-Warburg disease|Unknown|X-linked recessive
or Not applicable|Neonatal|310600 +65 65|Amaurosis congenita of Leber|1-9 / 100 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|179900 204000 204100 604232 604393 604537 608553 610612 611755 612712 613341 613826 613829 613835 613837 613843 614186 615360 +650 650|Lecithin-cholesterol acyltransferase deficiency|<1 / 1 000 000|Autosomal recessive|All ages|136120 245900 +652 652|MEN1
Wermer syndrome|1-9 / 100 000|Autosomal dominant
or Not applicable|All ages|131100 +65250 65250|Tarlov cyst|Unknown|Not applicable|Adult| +65282 65282|Carvajal syndrome
KWWH type II
Keratoderma with woolly hair type II
Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy
Childhood|605676 615821 +65283 65283|LQT8
Long QT syndrome type 8
Long QT syndrome-syndactyly syndrome|<1 / 1 000 000|Autosomal dominant|-|601005 +65284 65284|BBGD
BTBGD
Biotin-thiamine-responsive basal ganglia disease|-|Autosomal recessive|-|607483 +65285 65285|Dysplastic gangliocytoma of the cerebellum
LDD|<1 / 1 000 000|Autosomal dominant
or Not applicable|Adult|158350 +65286 65286|3q subtelomere deletion syndrome
3qter deletion
Del(3)(q29)
Monosomy 3q29
Monosomy 3qter|Unknown|Autosomal dominant|Infancy
Neonatal|609425 +65287 65287|Beta-alanine synthase deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613161 +65288 65288|Pancreatic and cerebellar agenesis|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|609069 +653 653|MEN2|1-9 / 100 000|Autosomal dominant|All ages|155240 162300 171400 +654 654|Renal embryonic tumor
Wilms tumor|1-9 / 100 000|Autosomal dominant
or Not applicable|Childhood|194070 194071 194090 601363 601583 616806 +655 655|-|1-9 / 100 000|Autosomal recessive|All ages|256100 602088 604387 606966 611498 613159 613820 613824 614377 615382 615862 +656 656|Familial idiopathic nephrotic syndrome|Unknown|Autosomal dominant
or Autosomal recessive|All ages|256370 600995 603278 603965 607832 610725 613237 614131 614196 615244 615573 615861 616002 616032 616220 616730 616892 616893 +65681 65681|-|Unknown|Not applicable|Childhood| +65682 65682|BRIC
Summerskill-Walshe-Tygstrup syndrome|Unknown|Autosomal dominant
or Autosomal recessive|All ages|243300 605479 +65683 65683|Epilepsy due to FCD|-|-|-|607341 +65684 65684|Benign focal amyotrophy
Hirayama disease
JMADUE
Juvenile muscular atrophy of distal upper extremity
Juvenile muscular atrophy of the distal upper limb|Unknown|Unknown|Adolescent
Adult|602440 +657 657|CHI
PHHI
Persistent hyperinsulinemic hypoglycemia of infancy|1-9 / 100 000|Autosomal dominant
or Autosomal recessive|Childhood
Neonatal
Infancy| +65720 65720|Distal arthrogryposis type 4
Distal arthrogryposis type IID|-|-|-|609128 +65743 65743|Distal arthrogryposis type 8|<1 / 1 000 000|Autosomal dominant|Childhood|178110 +65748 65748|Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type
Ferguson-Smith disease
MSSE
Multiple keratoacanthoma, Ferguson-Smith type
Self-healing squamous epithelioma type 1|Unknown|Autosomal dominant|Childhood
Adolescent
Adult
Elderly|132800 +65753 65753|Autosomal dominant demyelinating Charcot-Marie-Tooth disease
CMT1
Charcot-Marie-Tooth neuropathy type 1
Hereditary motor and sensory neuropathy type 1|1-5 / 10 000|Autosomal dominant|Infancy
Childhood
Adolescent
Adult| +65759 65759|ACPS2
Acrocephalopolysyndactyly type 2|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal
Infancy|201000 614976 +65798 65798|ACPS4
Acrocephalopolysyndactyly type 4|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|201020 +658 658|Angioneurotic edema
Bradykinine-induced angioedema
Non histamine-induced angioedema|1-9 / 100 000|Autosomal dominant
or Not applicable|All ages| +659 659|Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques
Olmsted syndrome
Palmoplantar and periorificial keratoderma|<1 / 1 000 000|Autosomal dominant
or X-linked recessive
or Not applicable|Infancy
Neonatal|300918 614594 +660 660|-|1-5 / 10 000|Not applicable|Neonatal
Antenatal|164750 310980 +661 661|CCHS
Central congenital hypoventilation syndrome
Congenital central alveolar hypoventilation syndrome
Ondine curse|Unknown|Autosomal dominant
or Not applicable|Infancy
Neonatal|209880 +662 662|Lymphedema with yellow nails
YNS|<1 / 1 000 000|-|Adult|153300 +663 663|Maternally-inherited CPEO
Maternally-inherited chronic progressive external ophthalmoplegia|Unknown|Mitochondrial inheritance
or Not applicable|Adolescent
Adult| +664 664|OCT deficiency
OTC deficiency
Ornithine carbamoyltransferase deficiency|1-9 / 100 000|X-linked recessive|Neonatal
All ages|311250 +66518 66518|-|<1 / 1 000 000|Autosomal dominant|Adolescent| +66529 66529|Ampulla cardiomyopathy
Apical ballooning syndrome
Ballooning cardiomyopathy
Broken heart syndrome
Stress cardiomyopathy
Tako-Tsubo syndrome
Takotsubo cardiomyopathy
Takotsubo syndrome
Transient left ventricular apical ballooning syndrome|Unknown|Unknown|Adult| +666 666|Brittle bone disease
Glass bone disease
Lobstein disease
OI
Osteopsathyrosis
Porak and Durante disease|1-5 / 10 000|Autosomal dominant
or Autosomal recessive|All ages|166200 166210 166220 166230 259420 259440 610682 610915 610967 610968 613848 613849 613982 614856 615066 615220 616229 616507 +66624 66624|Pediatric autoimmune disorders associated with Streptococcus infections
Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections|Unknown|Not applicable|Childhood| +66625 66625|-|<1 / 1 000 000|Autosomal dominant|Antenatal
Neonatal|605627 +66627 66627|Diffuse-type GCT
Diffuse-type giant cell tumor
TGCT
TSGCT
Tenosynovial giant cell tumor|-|Not applicable|-| +66628 66628|-|<1 / 1 000 000|Autosomal recessive|Childhood|614962 +66629 66629|GOSHS
Megacolon-microcephaly syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|609460 +66630 66630|-|Unknown|Not applicable|Childhood|118980 +66631 66631|Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|609528 +66633 66633|-|<1 / 1 000 000|Autosomal dominant|Adult| +66634 66634|3-methylglutaconic aciduria type 5
DCMA syndrome
MGA5|Unknown|Autosomal recessive|Childhood|610198 +66637 66637|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|608022 +66646 66646|-|Unknown|Not applicable|Childhood| +66661 66661|-|-|-|All ages| +66662 66662|-|-|-|All ages| +667 667|Infantile malignant osteopetrosis|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal|259700 259710 611490 615085 +668 668|Osteogenic sarcoma|1-9 / 100 000|-|Childhood|259500 +669 669|Taybi syndrome|<1 / 1 000 000|X-linked dominant|Infancy
Neonatal|304120 311300 +67 67|-|Unknown|Not applicable|All ages| +67036 67036|Autosomal dominant optic atrophy type 3
OPA3, autosomal dominant|<1 / 1 000 000|Autosomal dominant|Childhood|165300 +67037 67037|HNSCC
Head and neck squamous cell carcinoma|1-5 / 10 000|Multigenic/multifactorial
or Not applicable|All ages|275355 +67038 67038|B-CLL
B-cell chronic lymphoid leukemia
Small lymphocytic lymphoma|1-5 / 10 000|Multigenic/multifactorial
or Not applicable|Adult|109543 151400 609630 612557 612558 612559 +67039 67039|SOD|<1 / 1 000 000|Not applicable|Childhood| +67041 67041|MPS9
MPSIX
Mucopolysaccharidosis type 9
Mucopolysaccharidosis type IX|<1 / 1 000 000|Autosomal recessive|Childhood|601492 +67042 67042|Autosomal dominant late-onset retinal degeneration
LORD|Unknown|Autosomal dominant|Adult
Elderly|605670 +67043 67043|-|1-9 / 100 000|Not applicable|All ages| +67044 67044|Congenital dyserythropoietic anemia with thombocytopenia
X-linked congenital dyserythropoietic anemia with thrombocytopenia
XDAT|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300367 +67045 67045|MRGH|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300123 +67046 67046|3-methylglutaconyl-CoA hydratase deficiency
3MG-CoA hydratase deficiency
MGA1|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|250950 +67047 67047|Autosomal recessive optic atrophy plus syndrome
Autosomal recessive optic atrophy type 3
Costeff optic atrophy syndrome
Costeff syndrome
Infantile optic atrophy with chorea and spastic paraplegia
MGA3|Unknown|Autosomal recessive|Childhood|258501 +67048 67048|MGA4|Unknown|Autosomal recessive|Infancy
Neonatal|250951 +671 671|-|Unknown|-|All ages| +672 672|Hypothalamic hamartoblastoma syndrome|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal|146510 +673 673|-|1-9 / 100 000|Not applicable|All ages|611162 +674 674|-|<1 / 1 000 000|Not applicable|Infancy
Neonatal| +675 675|-|Unknown|Autosomal dominant
or Not applicable|Infancy
Neonatal|167750 +676 676|-|1-9 / 1 000 000|Autosomal dominant|Childhood
Adolescent|167800 +677 677|-|<1 / 1 000 000|Not applicable|Childhood
Adult| +678 678|Keratosis palmoplantar-periodontopathy syndrome
PLS|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal|245000 +679 679|Degos disease
Köhlmeier-Degos disease
Köhlmeier-Degos-Delort-Tricort syndrome
Papulosis atrophican maligna|<1 / 1 000 000|Autosomal dominant|Adult|602248 +68 68|-|1-9 / 100 000|Not applicable|All ages| +681 681|Westphall disease|1-9 / 100 000|Autosomal dominant|Childhood|170400 613345 +682 682|Adynamia episodica hereditaria
Familial hyperPP
Familial hyperkalemic periodic paralysis
Gamstorp disease
Gamstorp episodic adynamy
HYPP
HyperKPP
HyperPP
Hyperkalemic PP
Primary hyperPP
Primary hyperkalemic periodic paralysis|1-9 / 1 000 000|Autosomal dominant|Childhood|170500 +683 683|PSP syndrome|1-9 / 100 000|Not applicable|Adult|260540 601104 609454 610898 +68329 68329|Rare maxillofacial anomaly|-|-|-| +68334 68334|Rare bleeding disorder due to a constitutional coagulation factors defect
Rare coagulopathy due to a constitutional coagulation factors defect|-|-|-| +68335 68335|-|-|-|-| +68336 68336|-|-|-|-| +68341 68341|-|-|-|-| +68346 68346|Rare genodermatosis|-|-|-| +68347 68347|-|-|-|-| +68348 68348|-|-|-|-| +68354 68354|-|-|-|-| +68356 68356|-|-|-|-| +68361 68361|-|-|-|-| +68362 68362|-|-|-|-| +68363 68363|Rare dystonic disorder|-|-|-| +68364 68364|-|-|-|-| +68366 68366|-|-|-|-| +68367 68367|Rare metabolic disease|-|-|-| +68373 68373|-|-|-|-| +68378 68378|-|-|-|-| +68380 68380|-|-|-|-| +68381 68381|-|-|-|-| +68383 68383|-|-|-|-| +68385 68385|-|-|-|-| +684 684|Paramyotonia congenita|Unknown|Autosomal dominant|Adolescent
Adult
Childhood|168300 +68402 68402|-|-|-|-| +68411 68411|-|-|-|-| +68415 68415|-|-|-|-| +68416 68416|-|-|-|-| +68419 68419|-|-|-|-| +685 685|Familial spastic paraplegia
HSP
Hereditary spastic paraparesis
SPG
Strümpell-Lorrain disease|1-9 / 100 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive|All ages| +69 69|-|Unknown|-|All ages| +69028 69028|-|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Infancy
Neonatal| +69061 69061|-|Unknown|Unknown|Childhood|615861 +69063 69063|Alloimmune neonatal renal disease
FMAIG
Fetomaternal alloimmunization with antenatal glomerulopathies
Neonatal membranous glomerulopathy with maternal NEP deficiency
Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency|<1 / 1 000 000|Not applicable|Neonatal
Antenatal| +69076 69076|SGLT2 deficiency|Unknown|Autosomal recessive
or Autosomal dominant|All ages|233100 +69077 69077|Malignant rhabdoid tumor|Unknown|-|Antenatal
Neonatal
Infancy
Childhood|609322 613325 +69078 69078|-|Unknown|Unknown|All ages|613488 +69082 69082|OTUDP syndrome
Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|601957 +69083 69083|-|Unknown|Autosomal dominant|Childhood|601345 +69084 69084|HNED
Hair-nail ectodermal dysplasia
PHNED|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|602032 614928 614929 614931 +69085 69085|LMS|<1 / 1 000 000|Autosomal dominant|Neonatal|603543 +69087 69087|NFJ syndrome
Naegeli syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|161000 +69088 69088|OL-EDA-ID|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300301 +69125 69125|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|106750 +69126 69126|FRA
Familial recurrent arthritis
PAPA syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|604416 +69663 69663|ABCB4 gene mutation-associated cholelithiasis
Cholelithiasis with ABCB4 gene mutation|Unknown|Autosomal dominant
or Autosomal recessive|Adult|600803 +69665 69665|Gravidic intrahepatic cholestasis
Pregnancy-related cholestasis
Recurrent intrahepatic cholestasis of pregnancy|Unknown|Multigenic/multifactorial
or Not applicable|Adult|147480 614972 +69723 69723|Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency
Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency
Tyrosinemia due to HPD deficiency
Tyrosinemia type III|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|276710 +69735 69735|Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|137940 607823 +69736 69736|BADI|<1 / 1 000 000|Unknown|Adult| +69737 69737|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|601536 +69739 69739|ABSD
Athabascan brainstem dysgenesis syndrome
Navajo brainstem syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|601536 +69744 69744|-|<1 / 1 000 000|Unknown|Adult| +69745 69745|Follicular dyskeratoma|Unknown|Unknown|Adult| +699 699|-|<1 / 1 000 000|Mitochondrial inheritance
or Not applicable|Infancy
Neonatal|557000 +7 7|Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome|<1 / 1 000 000|Autosomal recessive
or X-linked recessive|Neonatal
Antenatal
Infancy|220210 300963 +70 70|SMA|1-9 / 100 000|Autosomal recessive|All ages|253300 253400 253550 271150 +700 700|-|1-5 / 10 000|-|All ages|104000 300042 610753 +701 701|-|1-5 / 10 000|-|-|104000 203655 610753 +702 702|Diffuse familial brain sclerosis
PMD
Pelizaeus-Merzbacher brain sclerosis
Sudanophilic leukodystrophy, Paelizeus-Merzbacher type|1-9 / 1 000 000|X-linked recessive
or X-linked dominant|All ages|213900 312080 +703 703|-|-|-|All ages| +704 704|-|1-5 / 10 000|Not applicable|Adult
Elderly|169610 +70470 70470|Major hyperlipidemia|Unknown|Multigenic/multifactorial|Adult|144650 +70472 70472|COX deficiency, French-Canadian type
Cytochrome C oxidase deficiency, French-Canadian type
Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type
Leigh syndrome, French-Canadian type
Leigh syndrome, Saguenay-Lac-Saint-Jean type
SLSJ-COX deficiency|Unknown|Autosomal recessive|Infancy
Neonatal|220111 +70474 70474|Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency
Cardiomyopathy with myopathy due to COX deficiency
Leigh disease with myopathy|-|-|-|256000 +70475 70475|-|1-5 / 10 000|Not applicable|Adult| +70476 70476|Spring catarrh|1-5 / 10 000|Not applicable|Childhood| +70482 70482|Esophageal carcinoma|1-9 / 100 000|-|Adult| +705 705|Goiter-deafness syndrome|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal|274600 +70567 70567|Bile duct cancer
CCA|1-9 / 100 000|Not applicable|Adult|615619 +70568 70568|PTLD|1-5 / 10 000|Not applicable|All ages| +70573 70573|SCLC|1-5 / 10 000|Not applicable|Adult|182280 +70578 70578|Adult ARDS|1-5 / 10 000|Not applicable|Adult| +70587 70587|Hyaline membrane disease
Infant ARDS
Infant respiratory distress syndrome
Neonatal respiratory distress syndrome|1-5 / 10 000|Not applicable|Infancy
Neonatal|267450 +70588 70588|-|1-9 / 100 000|Not applicable|Infancy
Neonatal| +70589 70589|BPD|1-5 / 10 000|Not applicable|Infancy
Neonatal| +70590 70590|AOI
Apnea of infancy|-|-|-| +70591 70591|CTEPH|1-9 / 100 000|Not applicable|Adult|612862 +70592 70592|IRAK4 deficiency|<1 / 1 000 000|Autosomal recessive|Childhood|607676 +70593 70593|-|<1 / 1 000 000|Multigenic/multifactorial|Childhood| +70594 70594|Autosomal recessive sepiapterin reductase-deficient DRD
DRD due to SRD
SPR deficiency
Sepiapterin reductase deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|612716 +70595 70595|SANDO|Unknown|Autosomal recessive|Adult|607459 +70596 70596|Antenatal EBV infection
Antenatal Epstein-Barr virus infection
Congenital EBV infection|Unknown|Not applicable|Infancy
Neonatal| +706 706|PAD
Patent ductus arteriosus
Persistent patency of the arterial duct|-|-|-| +707 707|Yersiniosis|Unknown|-|All ages| +708 708|Peters congenital glaucoma|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|604229 +709 709|Krause-Kivlin syndrome
Krause-van Schooneveld-Kivlin syndrome
Peters anomaly with short limb dwarfism|<1 / 1 000 000|Autosomal recessive|Neonatal|261540 +71 71|Anderson disease
CMRD
CRD|<1 / 1 000 000|Autosomal recessive|Childhood
Infancy|246700 +710 710|ACS5
Acrocephalosyndactyly type 5|Unknown|Autosomal dominant|Antenatal
Neonatal|101600 +71198 71198|-|Unknown|-|-| +712 712|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613470 +71202 71202|Rare bleeding disorder due to a constitutional platelet anomaly
Rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia
Rare coagulopathy due to a constitutional platelet anomaly
Rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia
Rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia|-|-|-| +71203 71203|-|-|-|-| +71209 71209|Rare mesenchymal tumor|-|-|-| +71211 71211|Devic disease|1-9 / 100 000|Multigenic/multifactorial|All ages| +71212 71212|HADH deficiency
Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinism due to HADH deficiency
Hyperinsulinism due to SCHAD deficiency
Hyperinsulinism due to glutamodehydrogenase deficiency
SCHAD deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|231530 609975 +71213 71213|-|Unknown|Autosomal dominant|All ages| +71267 71267|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +71269 71269|BES|<1 / 1 000 000|Unknown|No data available| +71270 71270|-|<1 / 1 000 000|Unknown|Infancy
Neonatal| +71271 71271|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|220600 +71272 71272|-|Unknown|Not applicable|Childhood| +71273 71273|Left renal vein entrapment syndrome
RNS|Unknown|Unknown|Adult| +71274 71274|DPL
Diffuse peritoneal leiomyomatosis
LPD
Leiomyomatosis peritonealis disseminate|<1 / 1 000 000|Unknown|Adult| +71275 71275|Rh-null syndrome|Unknown|Autosomal recessive|No data available|268150 +71276 71276|Imploding antrum syndrome|<1 / 1 000 000|Not applicable|Adult| +71277 71277|De Vivo disease
Glucose transporter type 1 deficiency
Glut-1 deficiency Syndrome
Glut1-DS|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|606777 +71278 71278|Inherited GS deficiency
Inherited glutamine synthetase deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|610015 +71279 71279|Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome
Chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies|Unknown|-|Adult| +71281 71281|-|-|-|-| +71289 71289|ATRUS syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal|605432 616738 +71290 71290|FPD/AML syndrome
FPS/AML syndrome
Familial platelet disorder with associated myeloid malignancy
Familial platelet syndrome|<1 / 1 000 000|Autosomal dominant|No data available|601399 +71291 71291|HVR
Hereditary vascular retinopathy-Raynaud phenomenon-migraine syndrome|<1 / 1 000 000|Autosomal dominant|Adult|192315 +713 713|GSD due to phosphoglycerate kinase 1 deficiency
Glycogenosis due to phosphoglycerate kinase 1 deficiency|<1 / 1 000 000|X-linked recessive|All ages|300653 +714 714|-|-|-|-|222800 +71493 71493|Familial thrombocythemia
Hereditary thrombocythemia|<1 / 1 000 000|Autosomal dominant
or X-linked recessive|Childhood|187950 300331 601977 614521 +715 715|GSD due to muscle phosphorylase kinase deficiency
GSD type 9D
GSD type 9E
GSD type IXd
GSD type IXe
Glycogen storage disease type 9D
Glycogen storage disease type 9E
Glycogen storage disease type IXd
Glycogen storage disease type IXe
Glycogenosis due to muscle phosphorylase kinase deficiency
Glycogenosis type 9D
Glycogenosis type 9E
Glycogenosis type IXd
Glycogenosis type IXe|<1 / 1 000 000|Autosomal recessive
or X-linked recessive|Adolescent
Adult|300559 +71505 71505|CAR syndrome
Paraneoplastic retinopathy|Unknown|Not applicable|Adult| +71517 71517|DYT12
Dystonia 12|<1 / 1 000 000|Autosomal dominant
or Not applicable|Childhood
Adolescent
Adult|128235 +71518 71518|-|<1 / 1 000 000|Not applicable|Childhood| +71519 71519|Psychogenic dystonia|Unknown|Not applicable|All ages| +71526 71526|POMC deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|609734 +71528 71528|PCI deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|600955 +71529 71529|MC4R deficiency|1-5 / 10 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|601665 +716 716|PAH deficiency
PKU
Phenylalanine hydroxylase deficiency|1-5 / 10 000|Autosomal recessive|Infancy|261600 +717 717|-|-|Autosomal dominant
or Not applicable|All ages| +718 718|Isolated Pierre Robin sequence|1-9 / 100 000|Autosomal recessive
or Not applicable|Neonatal|261800 +71859 71859|-|-|-|-| +71862 71862|-|-|-|-| +71864 71864|-|-|-|-| +72 72|-|1-9 / 100 000|Not applicable
or Unknown|Infancy|105830 +720 720|-|Unknown|-|Childhood| +721 721|Alpha storage pool deficiency
GPS
Platelet alpha-granule deficiency|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Childhood|139090 187900 +722 722|Plasminogen deficiency type 1|1-9 / 1 000 000|Autosomal recessive
or Not applicable|All ages|217090 +723 723|-|Unknown|Not applicable|-| +724 724|IAEP
Loeffler syndrome
Loffler syndrome|<1 / 1 000 000|Unknown|All ages| +725 725|CSWS
CSWSS syndrome
Continuous spikes and waves during slow-wave sleep
Epileptic encephalopathy with continuous spike-and-wave during slow sleep|Unknown|Autosomal dominant
or Not applicable|Childhood|245570 +726 726|Alpers progressive sclerosing poliodystrophy
Alpers syndrome
Progressive neuronal degeneration of childhood with liver disease|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood
Adolescent
Adult|203700 +727 727|MPA
Micropolyangiitis
Microscopic polyarteritis|1-9 / 100 000|Not applicable|Adult| +728 728|-|Unknown|Unknown|All ages| +729 729|Acquired primary erythrocytosis
Osler-Vaquez disease
PV
Polycythemia rubra vera
Vaquez disease|1-5 / 10 000|Not applicable|All ages|263300 +73 73|Gorham disease
Gorham syndrome
Idiopathic massive osteolysis
Progressive massive osteolysis
Vanishing bone disease|Unknown|Not applicable|All ages|123880 +73014 73014|IDI|-|-|Childhood| +731 731|-|1-9 / 100 000|Autosomal recessive|Childhood|263200 +732 732|PM|1-9 / 100 000|Not applicable|Adult
Elderly| +73217 73217|Aplasia of the Müllerian ducts
Müllerian duct failure|1-5 / 10 000|Autosomal dominant|Adolescent
Adult| +73220 73220|-|Unknown|X-linked recessive|Infancy
Neonatal|309580 +73223 73223|-|<1 / 1 000 000|Unknown|Childhood| +73224 73224|-|<1 / 1 000 000|Autosomal dominant|Childhood| +73229 73229|HANAC syndrome
Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|611773 +73230 73230|-|<1 / 1 000 000|-|Infancy
Neonatal| +73245 73245|-|<1 / 1 000 000|Unknown|Infancy
Neonatal| +73246 73246|-|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal| +73247 73247|EoE|1-5 / 10 000|Multigenic/multifactorial
or Not applicable|All ages|610247 613412 +73256 73256|-|Unknown|Not applicable|Adolescent
Childhood
Adult| +73260 73260|-|Unknown|Not applicable|All ages| +73263 73263|Mucormycosis|Unknown|Not applicable|All ages| +73267 73267|Hypernychthemeral syndrome|Unknown|Unknown|All ages| +73271 73271|-|<1 / 1 000 000|Autosomal recessive
or Autosomal dominant|All ages|614200 614201 +73272 73272|Growth delay-deafness- intellectual disability syndrome
IGF-1 deficiency
Primary insulin-like growth factor deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|608747 +73273 73273|Resistance to IGF-1|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|270450 +73274 73274|-|1-9 / 1 000 000|Not applicable|Adult| +733 733|Colorectal adenomatous polyposis
FAP
Familial polyposis coli|1-9 / 100 000|Autosomal dominant
or Autosomal recessive|Adult|175100 +734 734|Alpha dense granule deficiency|-|-|-| +73423 73423|Acute akee fruit intoxication
Acute intoxication by Blighia sapida
Jamaican vomiting sickness
Jamaican vomiting syndrome|Unknown|Not applicable|All ages| +735 735|-|Unknown|Autosomal dominant
or Not applicable|Childhood
Adolescent
Adult|175800 175900 +737 737|Palmar, plantar and disseminated porokeratosis|Unknown|Autosomal dominant
or X-linked dominant|Adolescent
Adult|175850 +738 738|-|1-9 / 100 000|Autosomal dominant
or Autosomal recessive|All ages| +739 739|Prader-Labhart-Willi syndrome
Willi-Prader syndrome|1-9 / 100 000|Not applicable|Neonatal
Antenatal|176270 615547 +74 74|-|-|-|-| +740 740|HGPS
Progeria|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|176670 +741 741|-|-|Autosomal dominant|-|157700 607829 610840 +742 742|Hyperimidodipeptiduria|Unknown|Autosomal recessive|Neonatal
Infancy
Childhood
Adolescent
Adult|170100 +743 743|-|-|Autosomal recessive|Infancy
Neonatal|612336 614514 +744 744|Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|<1 / 1 000 000|Not applicable|Infancy|176920 +745 745|Hereditary thrombophilia due to PC deficiency|-|Autosomal recessive|Childhood|176860 612304 +746 746|TFP deficiency
TFPD|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal|609015 +747 747|Autoimmune PAP
Idiopathic PAP
Idiopathic pulmonary alveolar proteinosis
aPAP
iPAP|1-9 / 1 000 000|Not applicable|Adult|610910 +748 748|Idiopathic infection caused by BCG or atypical mycobacteria
MSMD
Mendelian susceptibility to atypical mycobacteria
Mendelian susceptibility to mycobacterial infections|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive|All ages| +749 749|-|-|Autosomal recessive|-|612423 +750 750|Pseudoachondroplastic dysplasia
Pseudoachondroplastic spondyloepiphyseal dysplasia|1-9 / 100 000|Autosomal dominant|Infancy
Neonatal|177170 +75110 75110|-|-|-|-| +752 752|17-beta-hydroxysteroid dehydrogenase 3 deficiency
17-ketoreductase deficiency
17-ketosteroidreductase deficiency
Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency|-|Autosomal recessive|Neonatal
Adolescent|264300 +75233 75233|-|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal|278000 +75234 75234|Cholesterol ester storage disease|Unknown|Autosomal recessive|Childhood|278000 +75249 75249|Familial or idiopathic restrictive cardiomyopathy|1-9 / 100 000|Autosomal dominant
or Not applicable|All ages|115210 609578 612422 615248 617047 +753 753|46,XY DSD due to 5-alpha-reductase 2 deficiency
Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency
Pseudovaginal perineoscrotal hypospadias
Steroid 5-alpha-reductase deficiency|Unknown|Autosomal recessive|Neonatal
Infancy
Adolescent|264600 +75325 75325|Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome|<1 / 1 000 000|Unknown|Adolescent
Adult|609993 +75326 75326|Retinal arteriolar tortuosity
Retinal hemorrhage with vascular tortuosity
Tortuosity of retinal arteries|<1 / 1 000 000|Autosomal dominant
or Not applicable|Childhood|180000 +75327 75327|CAPE dystrophy
CAPED
Central areolar pigment epithelial dystrophy
Central retinal pigment epithelial dystrophy
MCDR1
NCMD
North Carolina macular dystrophy, retinal 1
Progressive foveal dystrophy|<1 / 1 000 000|Autosomal dominant|Childhood|136550 +75373 75373|CRAPB
PBCRA|<1 / 1 000 000|Autosomal dominant|Neonatal
Infancy|600790 +75374 75374|PERRS
Prolonged electroretinal response suppression|<1 / 1 000 000|Autosomal recessive|Childhood|608415 +75376 75376|DHRD
Dominant drusen
Dominant radial drusen
Doyne honeycomb retinal dystrophy
Malattia leventinese|Unknown|Autosomal dominant|Adult|126600 126700 +75377 75377|Areolar atrophy of the macula
CACD
Central areolar choroidal sclerosis|1-9 / 100 000|Autosomal dominant|Adult|215500 613105 613144 +75378 75378|Oligocone syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Adolescent
Infancy
Childhood
Adult| +75381 75381|Autosomal dominant cystoid macular edema
DCMD
Familial macular edema|<1 / 1 000 000|Autosomal dominant|Childhood|153880 +75382 75382|Congenital stationary night blindness, Oguchi type
Oguchi syndrome|Unknown|Autosomal recessive|Infancy
Neonatal|258100 613411 +75389 75389|Goossens-Devriendt syndrome|<1 / 1 000 000|Unknown|Infancy
Neonatal| +75391 75391|Primary immunodeficiency due to MCM4 deficiency|<1 / 1 000 000|Autosomal recessive|Childhood|609981 +75392 75392|EDS VIII
Ehlers-Danlos syndrome type 8|Unknown|Autosomal dominant|Childhood|130080 617174 +754 754|AIS
Androgen resistance syndrome
Goldberg-Maxwell syndrome
Morris syndrome
Testicular feminization syndrome|Unknown|X-linked recessive|Neonatal
Antenatal| +75496 75496|B4GALT7-CDG
Defective biosynthesis of proteodermatan sulfate
EDS, progeroid type
Galactosyltransferase I deficiency
PDS
XGPT deficiency
Xylosylprotein 4-beta-galactosyltransferase deficiency|<1 / 1 000 000|Autosomal recessive|Childhood
Infancy|130070 615349 +75497 75497|EDS V
Ehlers-Danlos syndrome type 5|<1 / 1 000 000|X-linked recessive|Adolescent|305200 +755 755|46,XY DSD due to LH resistance or LHB deficiency
46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
46,XY disorder of sex development due to LH resistance or LHB deficiency
46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
Male pseudohermaphroditism due to LH resistance or LHB deficiency
Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency|-|-|-|238320 +75501 75501|EDS X
Ehlers-Danlos syndrome type 10
Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality
Ehlers-Danlos syndrome, fibronectin-deficient|<1 / 1 000 000|Autosomal recessive|Adolescent
Adult|225310 +75508 75508|Phlebectatic osteohypoplastic angiodysplasia
Servelle-Martorell syndrome|Unknown|Unknown|Childhood| +75563 75563|XLSA|Unknown|X-linked recessive|All ages|300751 +75564 75564|AISA
Primary acquired sideroblastic anemia
RARS
Refractory anemia with ringed sideroblasts|1-9 / 100 000|Not applicable|Adult| +75565 75565|Davies disease
TEMF|Unknown|Not applicable|Childhood
Adolescent
Adult| +75566 75566|Eosinophilic endocarditis|Unknown|-|Adolescent
Childhood
Adult| +75567 75567|-|Unknown|Unknown|Adult| +756 756|PHA type 1|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive
or Not applicable|Infancy
Neonatal|177735 264350 +757 757|Chloride shunt syndrome
Familial hyperkalemic hypertension
Gordon hyperkalemia-hypertension syndrome
Hyperkalemia-hypertension syndrome, Gordon type
Hypertensive hyperkalemia
Mineralocorticoid resistant hyperkalemia
PHA2
PHAII
Spitzer-Weinstein syndrome|Unknown|Autosomal dominant
or Autosomal recessive|All ages|145260 614491 614492 614495 614496 +758 758|Gronblad-Strandberg-Touraine syndrome
PXE|1-9 / 100 000|Autosomal recessive|All ages|177850 264800 +75840 75840|Scleroatonic muscular dystrophy
UCMD
Ullrich disease|1-9 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|254090 616470 +75858 75858|Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome
Mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome|Unknown|Autosomal recessive|-|610156 +759 759|CPP
Gonadotropin-dependant precocious puberty|Unknown|Not applicable
or Autosomal dominant|Infancy
Childhood|176400 615346 +76 76|Anguilluliasis
Anguillulosis|Unknown|Not applicable|All ages| +760 760|PNP deficiency
PNPase deficiency|Unknown|Autosomal recessive|Infancy
Childhood|613179 +761 761|Anaphylactoid purpura
Henoch-Schönlein purpura
IgA vasculitis
Purpura rheumatica
Rheumatoid purpura|1-9 / 100 000|Not applicable|Childhood| +763 763|Pyknodysostosis|1-9 / 1 000 000|Autosomal recessive|All ages|265800 +764 764|Myositis purulenta tropica
Myositis tropicans
PM
Suppurative myositis
Tropical pyomyositis|Unknown|Not applicable|All ages| +765 765|PDH
PDHC
Pyruvate dehydrogenase complex deficiency|<1 / 1 000 000|Autosomal recessive
or X-linked dominant
or Not applicable|Childhood
Infancy
Neonatal|245348 245349 246900 312170 608782 614111 +766 766|Pyruvate kinase deficiency of erythrocytes|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal|266200 +767 767|Küssmaul-Maier disease
PAN
Periarteritis nodosa|1-9 / 100 000|Not applicable|All ages| +768 768|Congenital long QT syndrome|Unknown|Autosomal dominant
or Autosomal recessive|Childhood|192500 220400 600919 601005 603830 611818 611819 611820 612347 612955 613485 613688 613693 613695 616247 616249 +769 769|-|Unknown|Autosomal recessive|Infancy
Neonatal|262190 +77 77|-|1-9 / 100 000|-|Infancy
Neonatal| +770 770|-|1-9 / 1 000 000|Not applicable|All ages| +772 772|IRD|Unknown|Autosomal recessive|All ages|202370 266510 601539 614863 614867 614871 614873 614877 614885 614920 +77240 77240|Troncular lymphatic malformation|1-5 / 10 000|Autosomal dominant
or Autosomal recessive|All ages| +77243 77243|-|1-9 / 100 000|-|-|614103 +77258 77258|-|Unknown|Autosomal dominant|Infancy
Neonatal|190350 190351 +77259 77259|Non-cerebral juvenile Gaucher disease|1-9 / 100 000|Autosomal recessive|All ages|230800 +77260 77260|Acute neuronopathic Gaucher disease
Infantile cerebral Gaucher disease|<1 / 1 000 000|Autosomal recessive|Infancy|230900 +77261 77261|Cerebral juvenile and adult form of Gaucher disease
Chronic neuronopathic Gaucher disease
Gaucher disease, subacute neuronopathic type|<1 / 1 000 000|Autosomal recessive|All ages|231000 +77292 77292|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|257200 +77293 77293|-|1-9 / 1 000 000|Autosomal recessive|Childhood|607616 +77295 77295|Dentoleukoencephalopathy
Leukodystrophy with oligodontia|<1 / 1 000 000|Autosomal recessive|Childhood|607694 +77296 77296|Hyperostosis frontalis interna|Unknown|Autosomal dominant
or X-linked recessive|Adult|144800 +77297 77297|Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome|<1 / 1 000 000|Autosomal recessive|Infancy|609628 +77298 77298|MCOPS3
Syndromic microphthalmia type 3|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal|206900 +77299 77299|MCOPS10
MOBA syndrome
Syndromic microphthalmia type 10|<1 / 1 000 000|Autosomal recessive|Neonatal|611222 +773 773|Adult Refsum disease
Classic Refsum disease
HMSN 4
Hereditary motor and sensory neuropathy type 4
Heredopathia atactica polyneuritiformis
Phytanic-CoA hydroxylase deficiency|1-9 / 1 000 000|Autosomal recessive|Childhood
Adolescent
Adult
Infancy|266500 614879 +77300 77300|-|<1 / 1 000 000|Unknown|Infancy
Neonatal| +77301 77301|Microdeletion 9q22.3|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal| +77304 77304|-|<1 / 1 000 000|Unknown|Adult| +774 774|HHT
Rendu-Osler disease
Rendu-Osler-Weber disease|1-5 / 10 000|Autosomal dominant|Childhood|187300 600376 601101 610655 615506 +775 775|-|-|X-linked recessive|-| +776 776|Lujan syndrome
Lujan-Fryns syndrome
X-linked mental retardation with marfanoid habitus
XLMR with marfanoid habitus|Unknown|X-linked recessive|Infancy
Neonatal|300676 309520 +777 777|X-linked non-specific intellectual disability|Unknown|X-linked recessive|Childhood|300046 300047 300062 300114 300115 300143 300210 300271 300324 300355 300372 300387 300419 300428 300433 300436 300454 300498 300504 300505 300518 300558 300705 300716 300802 300803 300844 300848 300849 300850 300851 300852 300919 300928 300978 300983 300984 309530 309549 +778 778|-|1-9 / 100 000|X-linked dominant|Infancy
Neonatal|312750 +77828 77828|-|-|-|-| +77830 77830|-|-|-|-| +779 779|Primary biliary cirrhosis and systemic scleroderma|Unknown|Not applicable|Adult|613471 +78 78|Ancylostomiasis
Hookworm infection|Unknown|Not applicable|All ages| +780 780|-|Unknown|Multigenic/multifactorial|Childhood|268210 268220 +781 781|Coxiellosis
Infection due to Coxiella burnetii
Nine Mile fever
Quadrilateral fever
Query fever|Unknown|Not applicable|All ages| +782 782|Axenfeld syndrome
Rieger syndrome|1-9 / 1 000 000|Autosomal dominant|Infancy
Neonatal|180500 601499 602482 +783 783|Broad thumb-hallux syndrome
Broad thumbs-halluces syndrome|1-9 / 100 000|Autosomal dominant
or Unknown|All ages|180849 610543 613684 +785 785|-|-|Autosomal recessive|-|615363 +786 786|-|Unknown|Autosomal dominant
or Autosomal recessive
or Not applicable|All ages|615962 +788 788|-|-|-|-| +79 79|-|<1 / 1 000 000|Autosomal recessive|Childhood|262850 +790 790|-|Unknown|Autosomal dominant
or Not applicable|Infancy
Childhood
Antenatal|180200 +79022 79022|Lethal variant of Simpson-Golabi-Behmel syndrome
SGBS2|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300209 +79062 79062|-|-|-|-| +79076 79076|Infantile juvenile polyposis syndrome|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal|612242 +79078 79078|Chronic dacryoadenitis and sialadenitis
Mikulicz disease|Unknown|Not applicable|All ages| +79083 79083|FPLD3
Familial partial lipodystrophy type 3
PPARG-related FPLD|<1 / 1 000 000|Autosomal dominant|Adult|604367 +79084 79084|FPLD1
Familial partial lipodystrophy type 1|<1 / 1 000 000|Autosomal dominant|Childhood|608600 +79085 79085|AKT2-related FPLD|<1 / 1 000 000|Autosomal dominant|Adult| +79086 79086|Acquired lipoatrophic diabetes
Lawrence syndrome
Lawrence-Seip syndrome|1-9 / 100 000|Not applicable|All ages| +79087 79087|Barraquer-Simons syndrome
Progressive cephalothoracic lipodystrophy|1-9 / 100 000|Not applicable|Childhood|608709 +79088 79088|-|Unknown|Unknown|All ages| +79091 79091|HIBM3
Hereditary inclusion body myopathy type 3
IBM3
Inclusion body myopathy type 3|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|605637 +79093 79093|Angiodysgenetic necrotizing myelopathy
Familial osteosclerosis with abnormalities of the nervous system and meninges
Subacute angiohypertrophic myelomalacia
Subacute ascending necrotizing myelitis
Subacute necrotizing myelitis|Unknown|Not applicable|Adult| +79094 79094|Grange occlusive arterial syndrome
Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Childhood|602531 +79095 79095|2-methylacyl-CoA racemase deficiency
AMACR deficiency
Alpha-methyl-acyl-CoA racemase deficiency
Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome|<1 / 1 000 000|Autosomal recessive|All ages|214950 614307 +79096 79096|PNPO deficiency
PNPO-related neonatal epileptic encephalopathy
Pyridoxal phosphate-dependent seizures
Pyridoxamine 5'-oxidase deficiency
Pyridoxamine 5'-phosphate oxidase deficiency|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal|610090 +79097 79097|-|Unknown|Unknown|Infancy
Neonatal| +79098 79098|Sympathetic uveitis|1-9 / 1 000 000|Not applicable|All ages| +79099 79099|Ackerman dermatitis syndrome
IGDA|<1 / 1 000 000|Not applicable|Adult| +791 791|-|1-5 / 10 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive
or Mitochondrial inheritance|Childhood
Adolescent
Adult|180100 180104 180105 180210 268000 268025 268060 300029 300155 300424 300605 312600 312612 400004 600059 600105 600132 600138 600852 601414 601718 602594 602772 604232 604393 606068 607921 608133 608380 609913 609923 610282 610359 610599 611131 612095 612165 612572 612712 612943 613194 613341 613428 613464 613575 613581 613582 613617 613660 613731 613750 613756 613758 613767 613769 613794 613801 613809 613810 613827 613861 613862 613983 614180 614181 614494 614500 615233 615434 615565 615725 615780 615922 616188 616394 616469 616544 616562 617023 617123 +79100 79100|Folliculitis ulerythematosa reticulate|Unknown|Unknown
or Autosomal recessive|Childhood|209700 +79101 79101|Delta1-pyrroline-5-carboxylate dehydrogenase deficiency|Unknown|Autosomal recessive|All ages|239510 +79102 79102|Thyrotoxic hypokalemic periodic paralysis|<1 / 1 000 000|Multigenic/multifactorial
or Not applicable|Adult|188580 613239 614834 +79105 79105|Fibromyxosarcoma
Myxoid malignant fibrous histiocytoma|Unknown|Not applicable|Adult| +79106 79106|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|600002 +79107 79107|-|<1 / 1 000 000|Autosomal dominant|Adolescent|607371 +79113 79113|Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome
MFDM syndrome
Mandibulofacial dysostosis, Guion-Almeida type|<1 / 1 000 000|Autosomal dominant|Neonatal|610536 +79118 79118|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|610199 +79124 79124|VODI syndrome|<1 / 1 000 000|Autosomal recessive|Infancy|235550 +79126 79126|Acute interstitial pneumonitis
Hamman-Rich syndrome|1-9 / 100 000|Unknown|Adult|178500 +79127 79127|RB-ILD|Unknown|Not applicable|Adult| +79128 79128|Lymphocytic interstitial pneumonia|Unknown|Not applicable|All ages|247610 +79129 79129|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal| +79132 79132|-|<1 / 1 000 000|-|Infancy
Neonatal| +79133 79133|Bitemporal aplasia cutis congenita
Brauer syndrome
FFDD type I
FFDD1
Focal facial dermal dysplasia 1, Brauer type
Focal facial dermal dysplasia type 1|<1 / 1 000 000|Autosomal dominant|Neonatal
Antenatal|136500 +79134 79134|Developmental delay-epilepsy-neonatal diabetes syndrome|<1 / 1 000 000|Not applicable
or Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|606176 +79135 79135|Episodic ataxia-vertigo-tinnitus-myokymia syndrome|<1 / 1 000 000|Autosomal dominant|All ages|606554 +79136 79136|PATX
Periodic vestibulocerebellar ataxia|<1 / 1 000 000|Autosomal dominant|Adult|606552 +79137 79137|GEPD|Unknown|Autosomal dominant|Childhood|609446 +79138 79138|-|Unknown|Not applicable|All ages| +79139 79139|-|Unknown|Not applicable|All ages| +79140 79140|MCC
Merkel cell carcinoma|1-9 / 100 000|Not applicable|Adult| +79141 79141|Keratosis palmoplantaris nummularis
PPK nummularis
Plamoplantar hyperkeratosis nummularis
Plamoplantar keratoderma nummularis|<1 / 1 000 000|Autosomal dominant|No data available|114140 +79142 79142|-|-|-|-|126900 +79143 79143|Isolated anonychia|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|-|107000 206800 614149 +79144 79144|COIF
COIF syndrome
Congenital onychodysplasia of the index fingers
Iso-Kikuchi syndrome|-|-|-|605779 +79145 79145|Reticular pigment anomaly of flexures|Unknown|Autosomal dominant|Adolescent
Adult|179850 615327 615674 615696 +79146 79146|Melanosis diffusa congenita
Melanosis universalis hereditaria
Universal melanosis|-|Autosomal dominant|Neonatal
Infancy|145250 614233 +79147 79147|-|<1 / 1 000 000|-|Childhood|216700 +79148 79148|-|-|-|-|130100 +79149 79149|François syndrome|<1 / 1 000 000|-|Childhood|221800 +79150 79150|-|-|-|-|614323 +79151 79151|-|-|Autosomal dominant|Neonatal
Infancy
Adult|101900 +79152 79152|-|Unknown|Autosomal dominant|Adult|175900 607728 612293 612353 614714 616063 616631 +79153 79153|Onychodystrophy totalis
Twenty-nail dystrophy|Unknown|Autosomal dominant|Childhood|161050 +79154 79154|Alpha-aminoadipic aciduria|<1 / 1 000 000|-|-|204750 +79155 79155|Kynureninase deficiency
Xanthurenic aciduria|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|236800 +79156 79156|-|<1 / 1 000 000|Autosomal recessive|No data available|236900 +79157 79157|2-methylbutyric aciduria
Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
SBCAD deficiency
Short/branched-chain acyl-coA dehydrogenase deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|610006 +79158 79158|-|Unknown|-|-| +79159 79159|Isobutyric aciduria|Unknown|Autosomal recessive|Infancy
Neonatal|611283 +79161 79161|-|-|-|-| +79163 79163|-|-|-|-| +79166 79166|-|-|-|-| +79167 79167|-|-|-|-| +79168 79168|-|1-9 / 1 000 000|-|All ages| +79169 79169|-|-|-|-| +79171 79171|-|-|-|-| +79172 79172|CCDS
CDS
Cerebral creatine deficiency syndrome|Unknown|X-linked recessive
or Not applicable
or Autosomal recessive|Infancy
Childhood| +79173 79173|Cytosolic methyl group transfer or sulfur amino acid metabolism disorder|-|-|-| +79174 79174|-|-|-|-| +79175 79175|Disorder of GABA metabolism|-|-|-| +79177 79177|-|-|-|-| +79178 79178|-|-|-|-| +79179 79179|-|-|-|-| +79181 79181|-|-|-|-| +79183 79183|-|-|-|-| +79185 79185|-|-|-|-| +79186 79186|-|-|-|-| +79187 79187|-|-|-|-| +79188 79188|-|-|-|-| +79189 79189|PBD-ZSD
PBD-ZSS
PBD-Zellweger spectrum disorder|Unknown|Autosomal recessive|Infancy
Neonatal| +79190 79190|-|-|-|-| +79191 79191|-|-|-|-| +79192 79192|-|-|-|-| +79193 79193|-|-|-|-| +79194 79194|-|-|-|-| +79195 79195|-|-|-|-| +79196 79196|-|-|Autosomal recessive|Neonatal
Infancy
Childhood| +79197 79197|-|-|-|-| +792 792|X-linked juvenile retinoschisis
XLRS|1-9 / 100 000|X-linked recessive|Childhood|312700 +79200 79200|-|-|-|-| +79201 79201|GSD
Glycogenosis|-|-|-| +79204 79204|-|-|-|-| +79207 79207|-|-|-|-| +79211 79211|Combined hyperlipoproteinemia
Mixed hyperlipidemia
Mixed hyperlipoproteinemia|-|-|-| +79212 79212|-|-|-|-| +79213 79213|-|-|-|-| +79214 79214|-|-|-|-| +79215 79215|-|-|-|-| +79217 79217|-|-|-|-| +79219 79219|-|-|-|-| +79224 79224|-|-|-|-| +79225 79225|-|-|-|-| +79226 79226|-|-|-|-| +79230 79230|Juvenile hemochromatosis|<1 / 1 000 000|Autosomal recessive|Childhood|602390 613313 +79233 79233|HPRT deficiency, grade I
HPRT partial deficiency
HPRT-related gout
HPRT-related hyperuricemia
HPRT1 partial deficiency
Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
Kelley-Seegmiller syndrome|Unknown|X-linked recessive|All ages|300323 +79234 79234|Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1
Bilirubin-UGT deficiency type 1
Hereditary unconjugated hyperbilirubinemia type 1
UGT deficiency type 1|Unknown|Autosomal recessive|Infancy
Neonatal|218800 +79235 79235|Arias syndrome
Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2
Bilirubin-UGT deficiency type 2
Hereditary unconjugated hyperbilirubinemia type 2
UGT deficiency type 2|Unknown|Autosomal recessive|Childhood|606785 +79237 79237|GALK deficiency
GALK-D
Galactokinase deficiency galactosemia
Galactosemia type 2|Unknown|Autosomal recessive|Infancy
Neonatal|230200 +79238 79238|Epimerase deficiency galactosemia
GALE deficiency
GALE-D
Galactosemia type 3
UDP-galactose-4-epimerase deficiency
Uridine diphosphate galactose-4-epimerase deficiency|Unknown|Autosomal recessive|Infancy
Neonatal|230350 +79239 79239|GALT deficiency
Galactose-1-phosphate uridyltransferase deficiency
Galactosemia type 1|Unknown|Autosomal recessive|Infancy
Neonatal|230400 +79240 79240|GSD due to liver and muscle phosphorylase kinase deficiency
GSD type 9B
GSD type IXb
Glycogen storage disease type 9B
Glycogen storage disease type IXb
Glycogenosis due to liver and muscle phosphorylase kinase deficiency
Glycogenosis type 9B
Glycogenosis type IXb|Unknown|Autosomal recessive|Childhood|261750 +79241 79241|BTD deficiency
Juvenile-onset multiple carboxylase deficiency
Late-onset multiple carboxylase deficiency|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal|253260 +79242 79242|Early-onset multiple carboxylase deficiency
Neonatal multiple carboxylase deficiency|Unknown|Autosomal recessive|Infancy
Neonatal|253270 +79243 79243|PDHAD
Pyruvate decarboxylase deficiency
Pyruvate dehydrogenase complex E1 component subunit alpha deficiency|Unknown|X-linked dominant|Infancy
Neonatal|312170 +79244 79244|Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency
Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase complex component E2 deficiency|Unknown|Autosomal recessive|Childhood|245348 +79246 79246|PDH phosphatase deficiency|Unknown|Autosomal recessive|Infancy
Neonatal|608782 +79253 79253|Mild PKU
Variant PKU
Variant phenylketonuria
mPKU|Unknown|Autosomal recessive|Infancy
Neonatal| +79254 79254|Classic PKU|-|Autosomal recessive|Infancy
Neonatal| +79255 79255|Infantile GM1 gangliosidosis
Norman-Landing disease|Unknown|Autosomal recessive|Infancy
Neonatal|230500 +79256 79256|Juvenile GM1 gangliosidosis
Late-infantile GM1 gangliosidosis|<1 / 1 000 000|Autosomal recessive|Childhood|230600 +79257 79257|Adult-onset GM1 gangliosidosis|<1 / 1 000 000|Autosomal recessive|All ages|230650 +79258 79258|G6P deficiency type 1a
GSD due to G6P deficiency type 1a
GSD due to G6P deficiency type Ia
GSD type 1a
GSDIa
Glycogen storage disease due to G6P deficiency type Ia
Glycogen storage disease type 1a
Glycogenosis due to glucose-6-phosphatase deficiency type 1a
Glycogenosis due to glucose-6-phosphatase deficiency type Ia
Glycogenosis type Ia|Unknown|-|Infancy
Neonatal|232200 +79259 79259|G6P deficiency type Ib
G6P translocase deficiency
G6PT deficiency
GSD due to G6P deficiency type Ib
GSD due to G6PT deficiency
GSD type 1 non a
GSD type 1b
GSD type Ib
GSDIb
Glycogen storage disease due to G6P deficiency type Ib
Glycogen storage disease type 1b
Glycogen storage disease type Ib
Glycogenosis due to glucose-6-phosphatase deficiency type 1b
Glycogenosis due to glucose-6-phosphatase transport defect type Ib
Glycogenosis type 1b
Glycogenosis type Ib|Unknown|-|Infancy
Neonatal|232220 232240 +79262 79262|ANCL
Adult NCL
Kufs disease|Unknown|Autosomal dominant
or Autosomal recessive|Adult|162350 204300 256730 601780 610127 614706 615362 +79263 79263|Hagberg-Santavuori disease
INCL
Infantile NCL
Santavuori disease
Santavuori-Haltia disease|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|214200 256730 +79264 79264|Batten disease
JNCL
Juvenile NCL
Spielmeyer-Vogt disease|-|Autosomal recessive|Childhood|204200 204500 256730 600143 609055 610127 +79269 79269|Heparan sulfamidase deficiency
MPS3A
MPSIIIA
Mucopolysaccharidosis type 3A
Mucopolysaccharidosis type IIIA|1-9 / 1 000 000|Autosomal recessive|-|252900 +79270 79270|MPS3B
MPSIIIB
Mucopolysaccharidosis type 3B
Mucopolysaccharidosis type IIIB
N-acetyl-alpha-glucosaminidase deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|252920 +79271 79271|HGSNAT deficiency
Heparan-alpha-glucosaminide N-acetyltransferase deficiency
MPS3C
MPSIIIC
Mucopolysaccharidosis type 3C
Mucopolysaccharidosis type IIIC|1-9 / 100 000|Autosomal recessive|Childhood|252930 +79272 79272|GNS deficiency
Glucosamine N-acetyl-6-sulfatase deficiency
MPS3D
MPSIIID
Mucopolysaccharidosis type 3D
Mucopolysaccharidosis type IIID|-|Autosomal recessive|-|252940 +79273 79273|-|1-9 / 1 000 000|Autosomal dominant|Adolescent
Adult|121300 +79276 79276|-|1-9 / 1 000 000|Autosomal dominant|Adolescent
Adult|176000 +79277 79277|CEP
Günther disease|<1 / 1 000 000|Autosomal recessive|All ages|263700 +79278 79278|EPP|1-9 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|177000 +79279 79279|NAGA deficiency type 1
Schindler disease type 1|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|609241 +79280 79280|Adult-onset Alpha-N-acetylgalactosaminidase deficiency
Kanzaki disease
NAGA deficiency type 2
Schindler disease type 2|<1 / 1 000 000|Autosomal recessive|Adult|609242 +79281 79281|NAGA deficiency type 3
Schindler disease type 3|<1 / 1 000 000|Autosomal recessive|Childhood|609241 +79282 79282|CblC defect
Cobalamin C defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC|Unknown|Autosomal recessive|All ages|277400 +79283 79283|CblD defect
Cobalamin D defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD
Methylmalonic aciduria with homocystinuria, type cblD|<1 / 1 000 000|Autosomal recessive|All ages|277410 +79284 79284|CblF defect
Cobalamin F defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF
Lysosomal membrane cobalamin transporter deficiency
Methylmalonic aciduria with homocystinuria, type cblF|<1 / 1 000 000|Autosomal recessive|Childhood|277380 +79292 79292|FED
Partial LCAT deficiency|<1 / 1 000 000|Autosomal recessive|Adolescent
Adult|136120 +79293 79293|Complete LCAT deficiency
FLD
Norum disease|<1 / 1 000 000|Autosomal recessive
or Not applicable|All ages|245900 +79298 79298|Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form|Unknown|-|All ages| +79299 79299|Hyperinsulinemic hypoglycemia due to glucokinase deficiency|-|Autosomal dominant|-|602485 +793 793|Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome|Unknown|Multigenic/multifactorial
or Not applicable|Adolescent
Childhood
Adult| +79301 79301|3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency|Unknown|Autosomal recessive|Infancy
Neonatal|607765 +79302 79302|Oxysterol 7-alpha-hydroxylase deficiency|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|613812 +79303 79303|Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency|Unknown|Autosomal recessive|Infancy
Neonatal|235555 +79304 79304|BSEP deficiency
PFIC2|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal|601847 615878 +79305 79305|PFIC3|1-9 / 100 000|Autosomal recessive|All ages|602347 +79306 79306|Byler disease
FIC1 deficiency
PFIC1|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal|211600 +79310 79310|Vitamin B12-responsive methylmalonic aciduria type cblA|<1 / 1 000 000|Autosomal recessive|Childhood|251100 +79311 79311|Vitamin B12-responsive methylmalonic aciduria, type cblB|-|Autosomal recessive|Childhood|251110 +79312 79312|Partial deficiency of methylmalonyl-CoA mutase
Vitamin B12-unresponsive methylmalonic aciduria type mut-|Unknown|Autosomal recessive|Infancy
Neonatal|251000 +79314 79314|L-2-HGA
L-2-hydroxyglutaric acidemia|<1 / 1 000 000|Autosomal recessive|Childhood|236792 +79315 79315|D-2-HGA
D-2-hydroxyglutaric acidemia|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Neonatal
Infancy
Childhood|600721 613657 +79318 79318|CDG syndrome type Ia
CDG-Ia
CDG1A
Carbohydrate deficient glycoprotein syndrome type Ia
Congenital disorder of glycosylation type 1a
Congenital disorder of glycosylation type Ia
Phosphomannomutase 2 deficiency|Unknown|Autosomal recessive|Infancy
Neonatal|212065 +79319 79319|CDG syndrome type Ib
CDG-Ib
CDG1B
Carbohydrate deficient glycoprotein syndrome type Ib
Congenital disorder of glycosylation type 1b
Congenital disorder of glycosylation type Ib
Phosphomannose isomerase deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|602579 +79320 79320|CDG syndrome type Ic
CDG-Ic
CDG1C
Carbohydrate deficient glycoprotein syndrome type Ic
Congenital disorder of glycosylation type 1c
Congenital disorder of glycosylation type Ic
Glucosyltransferase 1 deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|603147 +79321 79321|CDG syndrome type Id
CDG-Id
CDG1D
Carbohydrate deficient glycoprotein syndrome type Id
Congenital disorder of glycosylation type 1d
Congenital disorder of glycosylation type Id
Mannosyltransferase 6 deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|601110 +79322 79322|CDG syndrome type Ie
CDG-Ie
CDG1E
Carbohydrate deficient glycoprotein syndrome type Ie
Congenital disorder of glycosylation type 1e
Congenital disorder of glycosylation type Ie
Dol-P-mannosyltransferase deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|608799 +79323 79323|CDG syndrome type If
CDG-If
CDG1F
Carbohydrate deficient glycoprotein syndrome type If
Congenital disorder of glycosylation type 1f
Congenital disorder of glycosylation type If|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|609180 +79324 79324|CDG syndrome type Ig
CDG-Ig
CDG1G
Carbohydrate deficient glycoprotein syndrome type Ig
Congenital disorder of glycosylation type 1g
Congenital disorder of glycosylation type Ig
Mannosyltransferase 8 deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|607143 +79325 79325|CDG syndrome type Ih
CDG-Ih
CDG1H
Carbohydrate deficient glycoprotein syndrome type Ih
Congenital disorder of glycosylation type 1h
Congenital disorder of glycosylation type Ih
Glucosyltransferase 2 deficiency|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|608104 +79326 79326|CDG syndrome type Ii
CDG-Ii
CDG1I
Carbohydrate deficient glycoprotein syndrome type Ii
Congenital disorder of glycosylation type 1i
Congenital disorder of glycosylation type Ii
Mannosyltransferase 2 deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|607906 +79327 79327|CDG syndrome type Ik
CDG-Ik
CDG1K
Carbohydrate deficient glycoprotein syndrome type Ik
Congenital disorder of glycosylation type 1k
Congenital disorder of glycosylation type Ik
Mannosyltransferase 1 deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|608540 +79328 79328|CDG syndrome type Il
CDG-Il
CDG1L
Carbohydrate deficient glycoprotein syndrome type Il
Congenital disorder of glycosylation type 1l
Congenital disorder of glycosylation type Il
Mannosyltransferase 7-9 deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|608776 +79329 79329|CDG syndrome type IIa
CDG-IIa
CDG2A
Carbohydrate deficient glycoprotein syndrome type IIa
Congenital disorder of glycosylation type 2a
Congenital disorder of glycosylation type IIa
N-acetylglucosaminyltransferase 2 deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|212066 +79330 79330|CDG syndrome type IIb
CDG-IIb
CDG2B
Carbohydrate deficient glycoprotein syndrome type IIb
Congenital disorder of glycosylation type 2b
Congenital disorder of glycosylation type IIb
Glucosidase 1 deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|606056 +79332 79332|Beta-1,4-galactosyltransferase deficiency
CDG syndrome type IId
CDG-IId
CDG2D
Carbohydrate deficient glycoprotein syndrome type IId
Congenital disorder of glycosylation type 2d
Congenital disorder of glycosylation type IId|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|607091 +79333 79333|CDG syndrome type IIe
CDG-IIe
CDG2E
Carbohydrate deficient glycoprotein syndrome type IIe
Congenital disorder of glycosylation type 2e
Congenital disorder of glycosylation type IIe|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|608779 +79344 79344|Chondrodysplasia punctata, Sheffield type|-|Autosomal dominant|-|118650 +79345 79345|-|Unknown|X-linked recessive|Neonatal|302950 602497 +79346 79346|-|-|Autosomal dominant|-|118651 +79347 79347|Toriello-Higgins-Miller syndrome|-|Autosomal recessive|-|215105 +79353 79353|-|-|-|-| +79354 79354|-|-|-|-| +79355 79355|-|-|-|-| +79356 79356|-|-|-|-| +79357 79357|Hereditary PPK
Hereditary keratosis palmoplantaris
Hereditary palmoplantar hyperkeratosis|-|-|-| +79358 79358|-|-|-|-| +79359 79359|-|-|-|-| +79360 79360|-|-|-|-| +79361 79361|Epidermolysis bullosa hereditaria
Hereditary epidermolysis bullosa|1-9 / 1 000 000|Autosomal dominant
or Autosomal recessive|All ages| +79362 79362|-|-|-|-| +79363 79363|-|-|-|-| +79364 79364|-|-|-|-| +79365 79365|-|-|-|-| +79366 79366|-|-|-|-| +79367 79367|-|-|-|-| +79368 79368|-|-|-|-| +79369 79369|-|-|-|-| +79370 79370|-|-|-|-| +79372 79372|-|-|-|-| +79373 79373|Ectodermal dysplasia|6-9 / 10 000|-|Neonatal
Infancy| +79374 79374|-|-|-|-| +79375 79375|-|-|-|-| +79376 79376|-|-|-|-| +79377 79377|-|-|-|-| +79378 79378|-|-|-|-| +79379 79379|-|-|-|-| +79380 79380|-|-|-|-| +79381 79381|-|-|-|-| +79382 79382|-|-|-|-| +79383 79383|-|-|-|-| +79384 79384|-|-|-|-| +79385 79385|-|-|-|-| +79386 79386|-|-|-|-| +79387 79387|-|-|-|-| +79388 79388|MPS with skin involvement|-|-|-| +79389 79389|-|-|-|-| +79390 79390|Rare skin photosensitivity|-|-|-| +79391 79391|-|-|-|-| +79394 79394|CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal|242100 606545 612281 615022 615023 615024 +79395 79395|Camisa disease
Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome
Loricrin keratoderma
Vohwinkel syndrome with ichthyosis|<1 / 1 000 000|Autosomal dominant|Childhood|604117 +79396 79396|Epidermolysis bullosa simplex, herpetiformis|<1 / 1 000 000|Autosomal dominant|Neonatal|131760 +79397 79397|EBS-MP|Unknown|Autosomal dominant|Infancy
Neonatal|131960 +79399 79399|Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Köbner type
Generalized EBS, non-Dowling-Meara type|Unknown|Autosomal dominant
or Not applicable|Infancy
Neonatal|131900 +794 794|ACS3
Acrocephalosyndactyly type 3
SCS|1-9 / 100 000|Autosomal dominant|Neonatal|101400 +79400 79400|EBS-loc
Epidermolysis bullosa simplex of palms and soles
Epidermolysis bullosa simplex, Weber-Cockayne type|1-9 / 1 000 000|Autosomal dominant|Childhood|131800 +79401 79401|EBS-O|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|131950 +79402 79402|GABEB
Generalized atrophic benign epidermolysis bullosa
JEB-nH gen
Junctional epidermolysis bullosa generalisata mitis
Junctional epidermolysis bullosa, Disentis type|Unknown|Autosomal recessive|Infancy
Neonatal|226650 +79403 79403|Carmi syndrome
JEB-PA|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|226730 +79404 79404|Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz-Pearson type|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal|226700 +79405 79405|EBJ-I
Inverse JEB
JEB-I|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|226650 +79406 79406|EB progressive
JEB-lo|<1 / 1 000 000|Autosomal recessive|Adolescent
Childhood
Adult| +79408 79408|Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
RDEB-sev gen
Severe generalized RDEB|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|226600 +79409 79409|Dystrophic epidermolysis bullosa inversa
Inverse RDEB
Inverse recessive dystrophic epidermolysis bullosa
RDEB-I|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|226600 +79410 79410|DEB-Pt
Pretibial DEB|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|131850 +79411 79411|DEB, bullous dermolysis of the newborn
DEB-BDN|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|131705 +79414 79414|Wooly hair nevus|-|Not applicable|Neonatal
Infancy|162900 +79430 79430|HPS|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal|203300 608233 614072 614073 614074 614075 614076 614077 614171 +79431 79431|OCA1A
Tyrosinase-negative oculocutaneous albinism|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal|203100 +79432 79432|OCA2|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal|203200 +79433 79433|OCA3
Red oculocutaneous albinism
Rufous oculocutaneous albinism
Xanthous oculocutaneous albinism|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|203290 +79434 79434|OCA1B
Oculocutaneous albinism, Amish type
Platinum oculocutaneous albinism
Yellow oculocutaneous albinism|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal|606952 +79435 79435|OCA4|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal|606574 +79443 79443|AHO-PHP syndrome Ia
Albright hereditary osteodystrophy-PHP syndrome Ia|Unknown|Autosomal dominant|Infancy
Neonatal
Childhood|103580 +79444 79444|-|Unknown|Autosomal dominant|Infancy
Neonatal
Childhood|612462 +79445 79445|AHO-PPHP syndrome
Albright hereditary osteodystrophy-PPHP syndrome|Unknown|Autosomal dominant|All ages|612463 +79447 79447|-|-|X-linked recessive
or X-linked dominant|-|312150 +79452 79452|Congenital primary lymphedema
Hereditary lymphedema type I
Nonne-Milroy lymphedema|Unknown|Autosomal dominant|Infancy
Neonatal|153100 247440 611944 613480 615907 +79455 79455|Cutaneous local mastocytoma
Multiple mastocytoma
Solitary mastocytoma|Unknown|Not applicable|All ages| +79456 79456|DCM
Diffuse cutaneous maculopapulous mastocytosis|<1 / 1 000 000|Not applicable|Infancy
Neonatal| +79457 79457|Urticaria pigmentosa|Unknown|Not applicable|All ages|154800 +79458 79458|Congenital hypotrichosis-milia syndrome|-|-|-| +79459 79459|-|-|-|-| +79466 79466|ILVEN|-|-|-| +79467 79467|-|-|-|-| +79468 79468|-|-|-|-| +79473 79473|Protoporphyrinogen oxidase deficiency
Variegate porphyria|1-9 / 1 000 000|Autosomal dominant|Adolescent
Adult|176200 +79474 79474|Atypical progeroid syndrome|-|Unknown
or Autosomal dominant|-| +79476 79476|Griscelli-Pruniéras syndrome type 1
Hypopigmentation-neurologic impairment syndrome|<1 / 1 000 000|-|Infancy|214450 +79477 79477|Griscelli-Pruniéras syndrome type 2
Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome|<1 / 1 000 000|Autosomal recessive|Infancy|607624 +79478 79478|Griscelli-Pruniéras syndrome type 3|<1 / 1 000 000|Autosomal recessive|Infancy|609227 +79479 79479|-|-|-|-| +79480 79480|Seborrheic pemphigus
Senear-Usher syndrome|-|-|-| +79481 79481|-|-|-|-| +79483 79483|Phakomatosis pigmentovascularis type 2|-|Not applicable|-| +79484 79484|Phakomatosis pigmentovascularis type 5|-|Not applicable|-| +79485 79485|Phakomatosis pigmentovascularis type 3|-|Not applicable|-| +79486 79486|-|-|Not applicable|Infancy
Neonatal|257350 +79489 79489|Cavernous lymphangioma
Cavernous lymphatic malformation
Macrocystic lymphangioma|-|Not applicable|Infancy
Neonatal| +79490 79490|Capillary lymphangioma
Capillary lymphatic malformation
Cutaneous lymphangioma circumscriptum
Microcystic infiltrating lymphatic malformation
Microcystic lymphangioma
Superficial lymphangioma
Superficial lymphatic malformation|-|Not applicable|Infancy
Neonatal| +79492 79492|Pili multigemini|-|-|-| +79493 79493|CYLD cutaneous syndrome|<1 / 1 000 000|Autosomal dominant|Adolescent
Adult|132700 601606 605041 612099 +79495 79495|Congenital generalized hypertrichosis, Macias-Flores type
Macias Flores-Garcia Cruz-Rivera syndrome|-|-|-|307150 +79499 79499|DDOD syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal
Antenatal|124480 +795 795|-|1-9 / 100 000|Not applicable|All ages| +79500 79500|Autosomal recessive deafness-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|220500 +79501 79501|Buschke-Fischer-Brauer syndrome
Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
PPKP1|Unknown|Autosomal dominant|Adolescent
Adult|148600 614936 +79502 79502|PPKP2
PPPP
Punctate palmoplantar hyperkeratosis type 2|-|Autosomal dominant|-|175860 +79503 79503|Ichthyosis hystrix, Curth-Macklin type|<1 / 1 000 000|Autosomal dominant
or Not applicable|Childhood|146590 +79504 79504|Ichthyosis, Lambert type|-|-|-|146600 +79506 79506|CEPT deficiency
Familial hyperalphalipoproteinemia|-|Autosomal dominant
or Autosomal recessive|-|143470 614028 +79507 79507|LTC4 synthase deficiency
Leukotriene C4 synthase deficiency|<1 / 1 000 000|-|Neonatal
Infancy|614037 +796 796|GM2 gangliosidosis 0 variant
Hexosaminidases A and B deficiency|1-9 / 1 000 000|Autosomal recessive|Infancy
Childhood
Adolescent
Adult|268800 +79643 79643|Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency|-|Autosomal recessive|-|256450 +79644 79644|Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency|Unknown|Autosomal recessive|-|601820 +79651 79651|Mild HPA
Non-PKU HPA
mHPA|Unknown|Autosomal recessive|Infancy
Neonatal| +79665 79665|-|-|-|-|175100 +79669 79669|-|-|-|-| +797 797|Besnier-Boeck-Schaumann disease
Boeck sarcoid
Boeck's sarcoid|1-5 / 10 000|Multigenic/multifactorial|Adult|181000 612387 612388 +798 798|SGS|<1 / 1 000 000|Autosomal dominant
or Not applicable|Antenatal
Neonatal
Infancy|269150 +799 799|-|Unknown|Autosomal dominant
or Autosomal recessive|Neonatal
Antenatal|269160 +8 8|Disomy Y
Double Y|1-5 / 10 000|Not applicable
or Unknown|All ages| +800 800|Aberfeld syndrome
Burton skeletal dysplasia
Burton syndrome
Catel-Hempel syndrome
Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
Myotonic chondrodystrophy
Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
Osteochondromuscular dystrophy
SJS
SJS1
Schwartz-Jampel syndrome type 1
Schwartz-Jampel-Aberfeld syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|255800 +801 801|-|1-5 / 10 000|Not applicable|All ages| +803 803|ALS
Charcot disease
Lou Gehrig disease|1-9 / 100 000|Autosomal dominant
or Autosomal recessive
or Not applicable|Adult|105400 205250 300857 606070 606640 608030 608031 608627 611895 612069 612577 613435 613954 614696 614808 615426 615515 616208 616437 +805 805|Bourneville syndrome
Tuberous sclerosis|1-5 / 10 000|Autosomal dominant|All ages|191100 613254 +806 806|-|<1 / 1 000 000|Autosomal recessive|All ages|262890 +808 808|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|210600 600546 606744 613676 613823 615807 616051 616171 616777 +809 809|MCTD
Sharp syndrome|1-9 / 100 000|Multigenic/multifactorial|Adolescent
Adult
Childhood| +81 81|AS syndrome
Anti-Jo1 syndrome|1-9 / 100 000|Not applicable|Adult
Elderly| +810 810|-|Unknown|Not applicable|All ages| +811 811|Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome|1-9 / 1 000 000|Autosomal recessive|Antenatal
Neonatal
Infancy
Childhood|260400 +812 812|Cherry-red spot-myoclonus syndrome
Lipomucopolysaccharidosis
Normomorphic sialidosis|<1 / 1 000 000|Autosomal recessive|Childhood
Adolescent|256550 +813 813|Silver-Russell dwarfism|1-9 / 1 000 000|Autosomal dominant
or Not applicable|Neonatal
Antenatal|180860 312780 +816 816|Fatty acid alcohol oxidoreductase deficiency|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal|270200 +817 817|Deciduous skin
Familial continuous skin peeling syndrome
Idiopathic deciduous skin
Keratosis exfoliativa congenita
PSS
Peeling skin disease|Unknown|Autosomal recessive|Infancy
Neonatal| +818 818|7-dehydrocholesterol reductase deficiency
RSH syndrome
SLOS|Unknown|Autosomal recessive|Infancy
Neonatal|270400 +819 819|17p11.2 microdeletion syndrome|1-9 / 100 000|Not applicable
or Unknown|Infancy
Neonatal|182290 +82 82|Hereditary thrombophilia due to congenital antithrombin 3 deficiency|-|-|-|613118 +820 820|Ehrmann-Sneddon syndrome
Livedo racemosa-cerebrovascular accident syndrome
Livedo reticularis-cerebrovascular accident syndrome|Unknown|Autosomal dominant
or Not applicable|Adult|182410 +82004 82004|EDS with periventricular heterotopia|<1 / 1 000 000|X-linked dominant|Childhood|300537 +821 821|Cerebral gigantism|1-9 / 100 000|Autosomal dominant
or Unknown
or Autosomal recessive|Neonatal|117550 617169 +822 822|Minkowski-Chauffard disease|1-5 / 10 000|Autosomal dominant
or Autosomal recessive|All ages|182900 270970 612653 612690 616649 +823 823|-|1-5 / 10 000|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal|182940 301410 601634 +824 824|Agnogenic myeloid metaplasia
Idiopathic myelofibrosis
Myelofibrosis with myeloid metaplasia
Osteomyelofibrosis|1-9 / 100 000|-|Adult|254450 +826 826|-|Unknown|Not applicable|All ages| +827 827|Fundus flavimaculatus
Stargardt 1|1-5 / 10 000|Autosomal dominant
or Autosomal recessive|Childhood
Adolescent
Adult|248200 600110 603786 +828 828|Hereditary progressive arthroophthalmopathy|1-9 / 100 000|Autosomal dominant
or Autosomal recessive|Childhood|108300 604841 609508 614134 614284 +829 829|AOSD
Wissler-Fanconi syndrome|1-9 / 100 000|Not applicable|Adult| +83 83|-|<1 / 1 000 000|Autosomal recessive|Neonatal|207410 +83001 83001|-|-|-|-| +831 831|-|-|-|-| +832 832|OXCT1 deficiency
SCOT deficiency
Succinyl-CoA acetoacetate transferase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|245050 +833 833|-|Unknown|Autosomal recessive|Infancy
Neonatal
Antenatal|252150 252160 272300 615501 +83311 83311|-|Unknown|Not applicable|All ages| +83312 83312|-|Unknown|Not applicable|All ages| +83313 83313|Mediterranean spotted fever|1-5 / 10 000|Not applicable|All ages| +83314 83314|-|Unknown|Not applicable|All ages| +83315 83315|-|Unknown|Not applicable|All ages| +83316 83316|-|Unknown|Not applicable|All ages| +83317 83317|Tsutsugamushi disease
Tsutsugamushi fever|Unknown|-|All ages| +83330 83330|Infantile spinal muscular atrophy
SMA type 1
SMA type I
SMA-I
SMA1
Werdnig-Hoffmann disease|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal|253300 +834 834|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|269920 604369 +83418 83418|Chronic infantile spinal muscular atrophy
Chronic spinal muscular atrophy
Intermediate spinal muscular atrophy
SMA type 2
SMA type II
SMA-II
SMA2|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal|253550 +83419 83419|Juvenile spinal muscular atrophy
Kugelberg-Welander disease
SMA type 3
SMA type III
SMA-III
SMA3|1-9 / 1 000 000|Autosomal recessive|Childhood|253400 +83420 83420|SMA type 4
SMA type IV
SMA-IV
SMA4
Spinal muscular atrophy, adult form|1-9 / 1 000 000|Autosomal recessive|Adult|271150 +83450 83450|Ghost teeth|Unknown|Not applicable|Childhood| +83451 83451|Florid osseous dysplasia
Focal cemento-osseous dysplasia|Unknown|Not applicable|Adult| +83452 83452|-|Unknown|Not applicable|All ages|604335 +83453 83453|-|Unknown|Not applicable|Adult| +83454 83454|Glomangiomatosis
Hereditary multiple glomangiomas
Multiple glomus tumors
VMGLOM
Venous malformations with glomus cells|Unknown|Autosomal dominant|All ages|138000 +83461 83461|-|1-5 / 10 000|Autosomal recessive|Infancy
Neonatal|610256 +83463 83463|-|1-5 / 10 000|Autosomal dominant
or Autosomal recessive
or Not applicable|Infancy
Neonatal|128800 600674 +83465 83465|-|Unknown|Unknown|Adolescent
Childhood
Adult| +83467 83467|Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome
Morvan's fibrillary chorea|-|-|-| +83468 83468|Unicameral bone cyst|Unknown|Not applicable|Childhood| +83469 83469|DSRCT|Unknown|Not applicable|Adolescent
Adult| +83471 83471|Nezelof syndrome|Unknown|Autosomal recessive
or X-linked recessive|Infancy
Neonatal|242700 +83472 83472|Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome
SCAR5|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|606937 +83473 83473|MPPH syndrome|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal|603387 615937 615938 +83476 83476|West-Nile fever|Unknown|Not applicable|All ages|610379 +83482 83482|-|Unknown|Not applicable|All ages| +83483 83483|Californian encephalitis|Unknown|Not applicable|All ages| +83484 83484|Saint Louis encephalitis|Unknown|Not applicable|All ages| +83593 83593|Western equine encephalomyelitis|1-9 / 1 000 000|Not applicable|All ages| +83594 83594|Eastern equine encephalomyelitis|Unknown|Not applicable|All ages| +83595 83595|American mountain fever
Colorado tick encephalitis
Colorado tick-borne disease
Mountain fever
Mountain tick fever|Unknown|Not applicable|All ages| +83597 83597|ADEM
Acute disseminated encephalitis|Unknown|Not applicable|All ages| +83600 83600|Von Economo encephalitis|<1 / 1 000 000|Not applicable|Adult| +83601 83601|Hashimoto encephalitis
SREAT|<1 / 1 000 000|Not applicable|All ages| +83616 83616|-|<1 / 1 000 000|Not applicable|Childhood| +83617 83617|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy
Antenatal|610483 +83619 83619|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +83620 83620|Enteric anendocrinosis|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|610370 +83628 83628|Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome
Urorectal septum malformation sequence|<1 / 1 000 000|Unknown|Infancy
Neonatal| +83629 83629|-|<1 / 1 000 000|X-linked recessive|Childhood|300660 +83639 83639|PIGM-CDG|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|610293 +83642 83642|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|206100 +83648 83648|-|<1 / 1 000 000|X-linked dominant|Infancy
Neonatal| +838 838|RED-M
Retinocochleocerebral vasculopathy
Retinopathy-encephalopathy-deafness associated with microangiopathy
SICRET syndrome
Small infarctions of cochlear, retinal and encephalic tissue|Unknown|Unknown|All ages| +839 839|Finnish congenital nephrosis|Unknown|Autosomal recessive|Infancy
Neonatal|256300 +84 84|Fanconi pancytopenia|1-9 / 1 000 000|Autosomal recessive
or X-linked recessive|Childhood|227645 227646 227650 300514 600901 603467 609053 609054 610832 613390 613951 614082 614083 615272 616435 +840 840|Fistulous vegetative verrucous hydradenoma
Naevus syringocystadenomatosus papilliferus
SCAP
Syringadenoma papilliferum|Unknown|Not applicable|Childhood
Neonatal
Infancy
Adolescent| +84064 84064|Phenotypic diarrhea
SD/THE
Syndromic diarrhea/Tricho-hepato-enteric syndrome
Tricho-hepato-enteric syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|222470 614602 +84065 84065|Idiopathic bile acid malabsorption|-|-|-| +84081 84081|Boichis disease
Nephronophthisis-hepatic fibrosis syndrome|Unknown|Autosomal recessive|All ages|613550 616217 +84085 84085|HAS
HS
Hinman-Allen syndrome
Non-neurogenic neurogenic bladder
Occult neuropathic bladder|Unknown|-|All ages| +84087 84087|-|-|-|-| +84090 84090|GFND
Glomerulopathy with fibronectin deposits|<1 / 1 000 000|Autosomal dominant|All ages|137950 601894 +84093 84093|-|-|-|-|602107 +84096 84096|-|-|-|-| +841 841|Steatocystoma multiplex|Unknown|Autosomal dominant
or Not applicable|Adolescent
Childhood
Adult|184500 +84132 84132|Early-onset desmin-related myopathy|-|Autosomal recessive|-|602771 +84142 84142|Acquired neuromyotonia
Continuous muscle fiber activity syndrome
Isaac-Mertens syndrome
Peripheral nerve hyperexcitability
Quantal squander syndrome|<1 / 1 000 000|-|All ages| +842 842|Seminoma of testis
Seminomatous germ cell tumor of testis
Testicular seminoma|Unknown|Not applicable|Adult|273300 +84271 84271|Sporadic idiopathic nephrosis|Unknown|Not applicable|Childhood|612551 +844 844|Lown-Ganong-Levine syndrome|<1 / 1 000 000|Autosomal dominant
or Not applicable|All ages|108950 +845 845|GM2 gangliosidosis, B, B1 variant
Hexosaminidase A deficiency|-|Autosomal recessive|All ages|272800 +846 846|-|1-5 / 10 000|Autosomal recessive|All ages|604131 +847 847|ATR-X syndrome|Unknown|X-linked recessive|Infancy
Neonatal|301040 +848 848|-|1-9 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Childhood|603902 613985 +849 849|-|Unknown|Autosomal recessive|Infancy
Neonatal|273800 +85 85|CDA|1-9 / 1 000 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Childhood| +851 851|-|<1 / 1 000 000|-|Infancy
Neonatal|188025 +85102 85102|-|-|-|-| +85110 85110|FENIB|<1 / 1 000 000|Autosomal dominant|Adult|604218 +85112 85112|Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|610644 +85128 85128|Västerbotten dystrophy|Unknown|Autosomal recessive|Childhood|607475 +85136 85136|CLWM|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|612951 +85138 85138|Autoimmune Addison's disease
Autoimmune adrenalitis
Classic Addison's disease
Primary Addison's disease|1-5 / 10 000|-|All ages|103230 240200 +85146 85146|Kaeser syndrome
Stark-Kaeser syndrome|-|Autosomal dominant|-|181400 +85162 85162|FOSMN syndrome|<1 / 1 000 000|Unknown|Adult
Elderly
Childhood| +85163 85163|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|610532 +85164 85164|CATSHL syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Childhood|610474 +85165 85165|SADDAN|<1 / 1 000 000|Autosomal dominant
or Not applicable|Childhood|616482 +85166 85166|PLSD-T
Platyspondylic dysplasia, Torrance-Luton type
Platyspondylic lethal skeletal dysplasia, Torrance type|Unknown|Autosomal dominant|Infancy
Neonatal|151210 +85167 85167|SMD-CRD|<1 / 1 000 000|Autosomal recessive|No data available|608940 +85168 85168|-|<1 / 1 000 000|Autosomal dominant|No data available| +85169 85169|-|Unknown|Autosomal dominant|Infancy
Neonatal|606835 +85170 85170|Mesomelic dysplasia with absent fibulas and triangular tibias
Triangular tibia-fibular aplasia syndrome|Unknown|Not applicable|Infancy
Neonatal|605274 +85172 85172|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +85173 85173|Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|614732 +85174 85174|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|264180 +85175 85175|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal| +85179 85179|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|259720 600329 +85182 85182|Bone dysplasia-medullary fibrosarcoma syndrome
Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome
Hardcastle syndrome|-|Autosomal dominant|-|112250 +85184 85184|-|<1 / 1 000 000|Autosomal recessive|Neonatal|269300 +85186 85186|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|213002 +85188 85188|-|Unknown|-|Infancy
Neonatal|605946 +85191 85191|Singleton-Merten syndrome|<1 / 1 000 000|Autosomal dominant|No data available|182250 616298 +85192 85192|Familial doughnut lesions of skull|<1 / 1 000 000|Autosomal dominant|Childhood|126550 +85193 85193|IJO
Juvenile osteoporosis|Unknown|Multigenic/multifactorial
or Not applicable|Childhood|259750 615221 +85194 85194|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|605822 +85195 85195|Hereditary expansile polyostotic osteolytic dysplasia
McCabe's disease|-|Autosomal dominant|-|174810 +85196 85196|Multicentric osteolysis-nodulosis-arthropathy syndrome
NAO syndrome|-|-|-|259600 277950 +85197 85197|-|<1 / 1 000 000|Autosomal dominant|-|137360 +85198 85198|-|<1 / 1 000 000|Autosomal dominant
or Not applicable|Neonatal
Infancy| +85199 85199|CAP syndrome
CDAGS syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|603116 +852 852|-|-|-|-|313900 +85200 85200|Ischio-spinal dysostosis
Ischio-vertebral dysplasia|-|Autosomal recessive
or Not applicable|-| +85201 85201|Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Childhood|606170 +85202 85202|Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|245150 +85203 85203|ACRP syndrome
Syndactyly-preaxial polydactyly-sternal deformity syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|605967 +85212 85212|Perinatal lethal Gaucher disease|<1 / 1 000 000|-|Infancy
Neonatal|608013 +85273 85273|-|<1 / 1 000 000|X-linked recessive|Childhood|300262 +85274 85274|MRXS7
X-linked intellectual disability, Ahmad type|<1 / 1 000 000|X-linked recessive|No data available|300218 +85275 85275|MCOPS4
Syndromic microphthalmia type 4|Unknown|X-linked recessive|Infancy
Neonatal|301590 +85276 85276|Armfield syndrome|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300261 +85277 85277|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300912 +85278 85278|X-linked Angelman-like syndrome
X-linked intellectual disability, South African type
X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome|<1 / 1 000 000|X-linked dominant|Infancy
Neonatal|300243 +85279 85279|-|<1 / 1 000 000|X-linked recessive|Childhood|300534 +85280 85280|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300471 +85282 85282|X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|<1 / 1 000 000|X-linked recessive
or Mitochondrial inheritance|Infancy
Neonatal|300148 +85283 85283|-|<1 / 1 000 000|X-linked recessive|Childhood|309605 +85284 85284|BRESHECK syndrome|<1 / 1 000 000|X-linked dominant|Childhood|308205 +85285 85285|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|312840 +85286 85286|Syndromic X-linked intellectual disability type 11|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300238 +85287 85287|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300263 +85288 85288|-|<1 / 1 000 000|X-linked recessive|Childhood|300434 +85289 85289|-|<1 / 1 000 000|X-linked recessive
or X-linked dominant|Infancy
Neonatal|300360 +85290 85290|-|<1 / 1 000 000|X-linked recessive
or X-linked dominant|Childhood|309545 +85292 85292|SCAX4
X-linked ataxia-dementia syndrome|<1 / 1 000 000|X-linked recessive|Adult|301840 +85293 85293|Cabezas syndrome|<1 / 1 000 000|X-linked recessive|Childhood|300354 +85294 85294|-|Unknown|X-linked recessive|Childhood|300491 +85295 85295|HSD10 deficiency, atypical type
Syndromic X-linked intellectual disability type 10
X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome|<1 / 1 000 000|X-linked dominant|Childhood|300220 +85297 85297|SCAX3
X-linked ataxia-deafness syndrome|<1 / 1 000 000|X-linked recessive|Childhood|301790 +853 853|NAIT|1-5 / 10 000|-|Antenatal
Neonatal| +85317 85317|-|<1 / 1 000 000|X-linked recessive|Childhood| +85318 85318|-|<1 / 1 000 000|X-linked recessive|Childhood| +85319 85319|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal| +85320 85320|Johnson syndrome|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal| +85321 85321|Martin-Probst syndrome
X-linked deafness-intellectual disability syndrome syndrome|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300519 +85322 85322|-|<1 / 1 000 000|X-linked recessive|Infancy
Childhood| +85323 85323|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal| +85324 85324|MRXS9|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300709 +85325 85325|-|<1 / 1 000 000|X-linked recessive|Childhood| +85326 85326|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal| +85327 85327|-|<1 / 1 000 000|X-linked recessive|Childhood| +85328 85328|-|<1 / 1 000 000|X-linked dominant|-|300706 +85329 85329|-|<1 / 1 000 000|X-linked recessive|All ages| +85330 85330|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal| +85332 85332|Aldred syndrome
Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion
Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)
Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3|<1 / 1 000 000|X-linked recessive|-|300578 +85334 85334|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal| +85335 85335|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|304340 +85336 85336|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal| +85337 85337|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal| +85338 85338|-|<1 / 1 000 000|X-linked recessive|Childhood| +854 854|-|1-9 / 100 000|Not applicable|All ages| +85408 85408|Polyarthritis without rheumatoid factor|1-9 / 100 000|Multigenic/multifactorial|-| +85410 85410|Pauciarticular chronic arthritis|1-5 / 10 000|Multigenic/multifactorial|Childhood| +85414 85414|Still disease
Systemic polyarthritis
Systemic-onset JIA|1-9 / 100 000|Unknown
or Multigenic/multifactorial|Childhood|604302 +85435 85435|Polyarthritis with rheumatoid factor|1-9 / 100 000|Unknown|Childhood| +85436 85436|-|1-9 / 100 000|Unknown|Childhood| +85438 85438|ERA|1-9 / 100 000|Unknown|Childhood| +85442 85442|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|262700 +85443 85443|Light-chain amyloidosis
Primary amyloidosis|1-5 / 10 000|Not applicable|Adult|254500 +85445 85445|Inflammatory amyloidosis
Reactive amyloidosis
Secondary amyloidosis|1-5 / 10 000|Multigenic/multifactorial|-| +85446 85446|ABeta2Mwt amyloidosis
Dialysis-related amyloidosis
Dialysis-related arthropathy
Wild type ABeta2-microglobulinic amyloidosis|1-9 / 100 000|Not applicable|Adult| +85447 85447|ATTRV30M-related amyloidosis
Familial amyloid polyneuropathy type I (Portuguese-Swedish-Japanese Type)
TTR amyloid neuropathy
Transthyretin amyloid neuropathy
Transthyretin amyloid polyneuropathy|Unknown|Autosomal dominant|Adult|105210 +85448 85448|Familial amyloid polyneuropathy type IV
Familial amyloidosis, Finnish type
Gelsolin amyloidosis
Hereditary amyloidosis, Finnish type|Unknown|Autosomal dominant|Adult|105120 +85450 85450|Amyloidosis, Ostertag type
Familial amyloid nephropathy
Familial renal amyloidosis
Hereditary amyloid nephropathy
Hereditary renal amyloidosis|Unknown|Autosomal dominant|All ages|105200 +85451 85451|ATTR cardiomyopathy
ATTRV122I-related amyloidosis
TTR-related amyloid cardiomyopathy
TTR-related cardiac amyloidosis
Transthyretin amyloid cardiopathy
Transthyretin-related familial amyloid cardiomyopathy|Unknown|Autosomal dominant|Adult|105210 +85453 85453|Familial cutaneous amyloidosis
PDR
Partington disease
X-linked cutaneous amyloidosis
XLPDR|-|X-linked dominant|-|301220 +85458 85458|HCHWA|<1 / 1 000 000|Autosomal dominant|Adult|105150 605714 +857 857|Imperforate anus with hand, foot and ear anomalies
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome|1-9 / 1 000 000|Autosomal dominant|All ages|107480 +858 858|Toxoplasma embryofetopathy
Toxoplasma embryopathy|Unknown|Not applicable|Antenatal
Neonatal
Infancy
Childhood
Adolescent
Adult| +859 859|Inherited deficiency of transcobalamin
Transcobalamin II deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|275350 +86 86|-|-|-|-|100070 609782 611891 614375 +860 860|Congenitally uncorrected transposition of the great vessels
Isolated ventriculoarterial discordance
Ventriculoarterial discordance with atrioventricular concordance|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal|608808 613854 +861 861|Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies|1-9 / 100 000|Autosomal dominant
or Autosomal recessive|Neonatal|154500 248390 613717 +863 863|Trichinosis|1-9 / 100 000|Not applicable|All ages| +86309 86309|CDG syndrome type Ij
CDG-Ij
CDG1J
Carbohydrate deficient glycoprotein syndrome type Ij
Congenital disorder of glycosylation type 1j
Congenital disorder of glycosylation type Ij
Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency|<1 / 1 000 000|Autosomal recessive|Childhood
Infancy
Neonatal|608093 +864 864|-|Unknown|Not applicable|Adult| +867 867|-|Unknown|Autosomal dominant|Childhood|601606 612099 +86788 86788|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|300299 +86789 86789|PTLAH|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|168860 +86795 86795|Papular mucinosis|-|-|-| +86797 86797|Intermediate lichen myxedematosus|<1 / 1 000 000|-|Adolescent
Adult
Elderly| +868 868|-|<1 / 1 000 000|Autosomal recessive|Neonatal|615512 +86812 86812|LGMD2K
Limb-girdle muscular dystrophy-intellectual disability syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|609308 +86813 86813|Atrophia areata
SCRA
Sveinsson chorioretinal atrophy|<1 / 1 000 000|Autosomal dominant|-|108985 +86814 86814|ADCME
Autosomal dominant cortical myoclonus and epilepsy
BAFME
Benign adult familial myoclonus epilepsy
FAME
FCMTE
Familial adult myoclonic epilepsy
Familial cortical myoclonic tremor and epilepsy|Unknown|Autosomal dominant|All ages|601068 607876 613608 615127 615400 +86815 86815|ALSG
Congenital absence of lacrimal puncta and salivary glands|-|Autosomal dominant|-|180920 +86816 86816|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|616000 +86817 86817|-|<1 / 1 000 000|Autosomal recessive|-|612631 +86818 86818|AMME complex
AMME syndrome
ATS-MR|<1 / 1 000 000|X-linked recessive|-|300194 +86819 86819|Papular atrichia|-|Autosomal recessive|-|209500 +86820 86820|Familial osteonecrosis of the femoral head|Unknown|Autosomal dominant|Adult|608805 +86821 86821|-|<1 / 1 000 000|Autosomal recessive|Antenatal| +86822 86822|-|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|601160 +86823 86823|LCH|Unknown|-|-| +86829 86829|-|-|-|Adult| +86830 86830|CMPD-U
Undifferentiated myeloproliferative disease|-|-|-|131440 +86834 86834|JMML
Juvenile chronic myelomonocytic leukemia|1-9 / 1 000 000|Not applicable|Childhood
Infancy|607785 +86836 86836|-|-|-|Adult| +86839 86839|-|Unknown|Not applicable|Adult| +86841 86841|5q- syndrome|-|-|Adult|153550 +86843 86843|Acute myelodysplasia with myelofibrosis
Acute myelofibrosis
Acute myelosclerosis|-|-|Adult| +86845 86845|AML with multilineage dysplasia|-|-|Adult| +86846 86846|Secondary AML
Secondary acute myeloid leukemia
Therapy-related AML and myelodysplastic syndrome|-|-|All ages| +86849 86849|-|-|-|-| +86850 86850|Chloroma
Extramedullary myeloid tumor
Granulocytic sarcoma|Unknown|Not applicable|All ages| +86851 86851|Acute leukemia of indeterminate lineage
Hybrid acute leukemia
Mixed lineage acute leukemia
Mixed phenotype acute leukemia|-|-|All ages| +86852 86852|B-PLL|-|-|Adult| +86854 86854|SMZL|-|-|Adult| +86855 86855|Solitary plasmacytoma|Unknown|Not applicable|Adult| +86861 86861|Non-amyloid MIDD
Randall disease|-|-|Adult| +86864 86864|HCD|Unknown|-|Adult| +86867 86867|NMZL|-|-|-| +86869 86869|LYG|-|Not applicable|Adult| +86870 86870|BPDCN
Blastic NK-cell lymphoma
Blastic plasmacytoid dendritic cell neoplasm
Lymphoblastoid variant of NK-cell lymphoma
Monomorphic NK-cell lymphoma|1-5 / 10 000|Not applicable|Elderly| +86871 86871|T-PLL
T-cell chronic lymphocytic leukemia|-|-|Adult| +86872 86872|Proliferation of large granular lymphocytes
T-LGL
T-cell LGL leukemia|Unknown|-|Adult| +86873 86873|ANKCL
Aggressive NK-cell lymphoma
NK-cell LGL leukemia
NK-cell large granular lymphocyte leukemia|Unknown|Not applicable
or Multigenic/multifactorial|Adult| +86875 86875|ATLL|-|Not applicable
or Multigenic/multifactorial|Adult| +86879 86879|Angiocentric T-cell lymphoma
Lethal midline granuloma
NK/T-cell lymphoma
NKTCL
Nasal T/natural killer-cell lymphoma|-|Multigenic/multifactorial
or Not applicable|Adult| +86880 86880|EATL
ETTL
Enteropathy-type T-cell lymphoma
Intestinal T-cell lymphoma|-|-|Adult| +86882 86882|-|Unknown|-|Adolescent
Adult| +86884 86884|SPTCL
Subcutaneous panniculitic T-cell lymphoma|Unknown|Not applicable|All ages| +86885 86885|-|-|-|-| +86886 86886|AILT
Immunoblastic lymphadenopathy
Lymphogranulomatosis X
T-cell lymphoma, AILD type|-|-|Adult| +86893 86893|NLPHL|Unknown|Unknown|All ages| +86896 86896|-|-|-|Adult| +86897 86897|-|-|-|All ages| +869 869|2A syndrome
3A syndrome
4A syndrome
AAA syndrome
Achalasia-addisonianism-alacrima syndrome
Adrenal insufficiency-achalasia-alacrima syndrome
Allgrove syndrome
Double A syndrome
Quaternary A syndrome|<1 / 1 000 000|Autosomal recessive|All ages|231550 615510 +86900 86900|Interdigitating cell sarcoma
Reticulum cell sarcoma|-|-|Adult|267730 +86902 86902|-|-|-|All ages| +86903 86903|-|-|-|-| +86904 86904|-|-|-|-| +86906 86906|-|-|-|-| +86908 86908|HHE syndrome
Hemiconvulsion-hemiplegia-epilepsy syndrome
IHHS|-|-|-| +86909 86909|Benign myoclonic epilepsy of infancy
Benign myoclonus epilepsy of infancy|<1 / 1 000 000|Autosomal recessive|-| +86911 86911|-|-|-|-| +86913 86913|Myoclonus epilepsy in non-progressive encephalopathies|-|-|-| +86914 86914|-|<1 / 1 000 000|Autosomal dominant|Adolescent|152900 +86915 86915|Irons-Bianchi syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|601927 +86918 86918|Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome|<1 / 1 000 000|Autosomal dominant|-| +86919 86919|Palmoplantar keratoderma-clinodactyly syndrome|<1 / 1 000 000|Autosomal dominant|-|148520 +86920 86920|-|-|-|-|125595 +86923 86923|Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type
PPK, Gamborg-Nielsen type|Unknown|Autosomal recessive|-|244850 +87 87|ACS1
Acrocephalosyndactyly type 1|1-9 / 100 000|Autosomal dominant|Antenatal
Neonatal|101200 +870 870|Trisomy 21|1-5 / 10 000|Not applicable|Antenatal
Neonatal|190685 +871 871|Familial Lenègre disease
Familial Lev disease
Familial Lev-Lenègre disease
Familial PCCD
Familial progressive heart block
Hereditary bundle branch defect|Unknown|Autosomal dominant|Adult|113900 115080 140400 604559 612838 +872 872|-|-|-|-| +87277 87277|-|-|-|-| +873 873|Aggressive fibromatosis
Desmoid type fibromatosis|Unknown|Not applicable
or Unknown|Adolescent
Adult|135290 +874 874|Adult cardiac tumor|Unknown|Not applicable|Adult| +875 875|Cardiac tumor of the child
Primary pediatric cardiac tumor|Unknown|Not applicable|Childhood| +87503 87503|Keratosis palmoplantaris transgrediens of Siemens
Meleda disease
Transgrediens palmoplantar keratoderma of Siemens|1-9 / 100 000|Autosomal recessive|Neonatal
Infancy
Childhood|248300 +876 876|Endodermal sinus tumor|-|-|-|273300 +877 877|APUDoma
Neuroendocrine tumor|Unknown|Unknown|Adult| +87876 87876|Infantile dysmorphic sialidosis|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal
Infancy
Childhood|256150 256550 +87884 87884|Isolated genetic deafness|-|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Infancy
Neonatal| +879 879|-|Unknown|Not applicable|All ages| +88 88|Idiopathic bone marrow failure|1-9 / 1 000 000|Unknown|Adult|609135 614742 614743 +881 881|45,X syndrome
45,X/46,XX syndrome|1-5 / 10 000|Not applicable
or Unknown|Infancy
Neonatal
Antenatal
Childhood| +882 882|FAH deficiency
Fumarylacetoacetase deficiency
Fumarylacetoacetate hydrolase deficiency
Hepatorenal tyrosinemia
Tyrosinemia type I|Unknown|Autosomal recessive|All ages|276700 +883 883|-|-|-|-| +884 884|Isochromosome 12p mosaicism
Isochromosome 12p syndrome
Pallister-Killian syndrome|Unknown|Not applicable
or Unknown|Neonatal
Antenatal|601803 +886 886|Retinitis pigmentosa-deafness syndrome
USH|1-9 / 100 000|Autosomal recessive|Infancy
Neonatal|276900 276901 276902 276904 500004 601067 602083 602097 605472 606943 611383 612632 614504 614869 614990 +88616 88616|AR-NSID
NS-ARID|-|Autosomal recessive|Infancy|249500 607417 608443 611090 611091 611092 611093 611095 611096 611097 611107 613192 614020 614202 614208 614249 614329 614333 614340 614341 614342 614343 614344 614345 614346 614347 614499 615802 615817 615942 615979 616116 616193 616460 616739 616887 617028 617125 +88618 88618|Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|613752 +88619 88619|ADANE
Recurrent acute necrotizing encephalopathy|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|608033 +88620 88620|-|<1 / 1 000 000|Autosomal dominant
or X-linked recessive|Infancy
Neonatal|107200 +88621 88621|Congenital ichthyosis type 4
IPS|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|608649 +88628 88628|Autosomal recessive posterior column ataxia and retinitis pigmentosa
PCARP|<1 / 1 000 000|Autosomal recessive|Childhood|609033 +88629 88629|Blue colour blindness
Congenital tritanopia
Tritan colour blindness|1-9 / 100 000|Autosomal dominant|Infancy
Neonatal|190900 +88630 88630|-|<1 / 1 000 000|X-linked dominant|Infancy
Neonatal|300244 +88632 88632|-|-|Autosomal dominant|-|107250 +88633 88633|SLK
Theodore's superior limbic keratoconjunctivitis
Theodore's syndrome|-|-|-| +88635 88635|-|<1 / 1 000 000|Unknown|-|616231 +88637 88637|4H syndrome|<1 / 1 000 000|Autosomal recessive|Childhood
Infancy
Adolescent|607694 614381 616494 +88639 88639|HIBCH deficiency
Methacrylic aciduria
Valine metabolic defect|<1 / 1 000 000|Autosomal recessive|No data available|250620 +88642 88642|-|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|-|243000 +88643 88643|-|<1 / 1 000 000|Unknown|Infancy
Neonatal| +88644 88644|ARCA1
Autosomal recessive cerebellar ataxia type 1
SCAR8|<1 / 1 000 000|Autosomal recessive|Adult|610743 +88659 88659|-|-|-|-|161900 +88660 88660|Early-onset hypertension with exacerbation in pregnancy
Hypertension due to gain-of-function mutations in the mineralocorticoid receptor|-|-|-|605115 +88661 88661|-|Unknown|Autosomal recessive
or Autosomal dominant
or X-linked dominant|Infancy
Neonatal|104500 104510 104530 130900 204650 204700 301200 301201 612529 613211 614832 615887 616221 616270 +88673 88673|HCC|1-5 / 10 000|Not applicable|All ages|114550 +887 887|VACTERL association
VATER association|Unknown|Not applicable|Neonatal|192350 +888 888|Cleft lip/palate with mucous cysts of lower lip
Lip-pit syndrome
VWS|1-9 / 100 000|Autosomal dominant
or Not applicable|Neonatal|119300 604547 606713 +889 889|Cutaneous hypersensitivity vasculitis
Cutaneous leukocytoclastic vasculitis
Cutaneous small vessel vasculitis
Hypersensitivity angiitis|Unknown|Not applicable|All ages| +88917 88917|-|1-9 / 100 000|X-linked dominant|Childhood|301050 +88918 88918|-|-|Autosomal dominant|Childhood|104200 +88919 88919|-|-|Autosomal recessive|Childhood|203780 +88924 88924|Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome|<1 / 1 000 000|Autosomal dominant|-|600273 +88938 88938|PHA2A|-|-|-|145260 +88939 88939|PHA2B|-|-|-|614491 +88940 88940|PHA2C|-|-|-|614492 +88949 88949|-|-|-|-| +88950 88950|-|-|-|-| +88991 88991|-|-|-|-| +88993 88993|-|-|-|-| +890 890|Sinusoidal obstruction syndrome|1-5 / 10 000|Not applicable|All ages| +89043 89043|-|-|-|-| +891 891|Criswick-Schepens syndrome
FEVR|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Infancy
Neonatal|133780 305390 601813 605750 613310 616468 +892 892|Familial cerebelloretinal angiomatosis
Lindau disease
VHL
Von Hippel-Lindau syndrome|1-9 / 100 000|Autosomal dominant|Adult|193300 +893 893|Deletion 11p13
Monosomy 11p13
Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|-|Autosomal dominant|Neonatal|194072 612469 +894 894|WS1
Waardenburg syndrome type I|1-9 / 100 000|Autosomal dominant|Neonatal|193500 +895 895|WS2
Waardenburg syndrome type II|Unknown|Autosomal dominant|Neonatal|193510 600193 606662 608890 611584 +896 896|Klein-Waardenburg syndrome
WS3
Waardenburg syndrome type III
Waardenburg syndrome with limb anomalies|Unknown|Autosomal dominant
or Autosomal recessive|Neonatal|148820 +897 897|Shah-Waardenburg syndrome
WS4
Waardenburg syndrome type 4
Waardenburg-Hirschsprung syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Neonatal|277580 613265 613266 +898 898|Dominant hyaloideoretinal dystrophy of Wagner
VCAN-related vitreoretinopathy
Vitreoretinal degeneration, Wagner type
Wagner syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|143200 +89826 89826|-|-|-|-| +89832 89832|-|-|-|-| +89838 89838|EBS-AR KRT14|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|601001 +89839 89839|EBSS|Unknown|Autosomal dominant|Infancy
Neonatal|607600 +89840 89840|JEN-nH|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|226650 +89841 89841|Centripetal dystrophic epidermolysis bullosa
Centripetal recessive dystrophic epidermolysis bullosa
RDEB, centripetalis
RDEB-Ce|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +89842 89842|Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis
Autosomal recessive dystrophic epidermolysis bullosa, generalized other
Generalized mitis RDEB
RDEB generalisata mitis
RDEB, non-Hallopeau-Siemens type
RDEB-O
RDEB-generalized other
Recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type|Unknown|Autosomal recessive|Infancy
Neonatal| +89843 89843|DEB, pruriginosa
DEB-Pr
Pruriginous dystrophic epidermolysis bullosa|Unknown|Autosomal dominant
or Autosomal recessive|Childhood|604129 +89844 89844|Microlissencephaly type A|Unknown|Autosomal recessive|Infancy
Neonatal|257320 +899 899|HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal|236670 253280 253800 613150 613153 613154 614643 614830 615041 615181 615249 615287 616538 +89936 89936|X-linked hypophosphatemic rickets
XLH|-|X-linked dominant|Childhood|307800 +89937 89937|ADHR
Autosomal dominant hypophosphatemia|<1 / 1 000 000|Autosomal dominant|All ages|193100 +89938 89938|Bartter syndrome type 4
Bartter syndrome type IV|Unknown|Autosomal recessive|Antenatal
Neonatal
Infancy
Childhood|602522 613090 +9 9|48,XXXX syndrome
Quadruple X
Tetra X|<1 / 1 000 000|-|Infancy
Neonatal| +90 90|Arginase deficiency
Hyperargininemia|<1 / 1 000 000|Autosomal recessive|Infancy
Childhood|207800 +900 900|GPA
Wegener granulomatosis|1-9 / 100 000|Not applicable|All ages|608710 +90000 90000|-|Unknown|Unknown|All ages| +90001 90001|Bornholm eye disease|<1 / 1 000 000|X-linked recessive|Childhood|300843 +90002 90002|UCTD|-|-|-| +90003 90003|Inflammatory pseudotumor of the liver|Unknown|Not applicable|All ages| +90020 90020|Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome
Guam disease
Lytico-Bodig disease
PDALS
Parkinsonism-dementia-ALS complex|-|-|-|105500 +90021 90021|-|-|-|-| +90022 90022|-|<1 / 1 000 000|Unknown|Infancy
Neonatal| +90023 90023|Primary immunodeficiency syndrome with short stature|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|610798 +90024 90024|LAMM syndrome
Microdontia-type I microtia-deafness syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|610706 +90025 90025|-|-|-|-| +90026 90026|-|<1 / 1 000 000|Autosomal dominant|Childhood|133020 +90030 90030|-|<1 / 1 000 000|Autosomal recessive|No data available| +90031 90031|-|<1 / 1 000 000|Autosomal recessive|-|235700 +90033 90033|Warm AIHA
wAHA
wAIHA|1-9 / 100 000|Multigenic/multifactorial|All ages| +90035 90035|Donath-Landsteiner hemolytic anemia
Donath-Landsteiner syndrome
PCH|1-9 / 1 000 000|Multigenic/multifactorial|Childhood| +90036 90036|Mixed AIHA|<1 / 1 000 000|Multigenic/multifactorial|All ages| +90037 90037|Drug-induced AIHA|<1 / 1 000 000|Multigenic/multifactorial|All ages| +90038 90038|D+HUS
Hemolytic-uremic syndrome with diarrhea
Shiga-like toxin-associated HUS
Sxt-HUS
Typical HUS|Unknown|Not applicable|All ages|235400 +90039 90039|-|Unknown|-|Childhood| +90041 90041|Stress erythrocytosis
Stress polycythemia|Unknown|-|Adult| +90042 90042|Congenital erythrocytosis due to erythropoietin receptor mutation
Congenital polycythemia due to erythropoietin receptor mutation
Familial erythrocytosis
PFCP
Primary congenital erythrocytosis
Primary familial and congenital polycythemia|Unknown|Autosomal dominant|All ages|133100 +90044 90044|-|Unknown|Autosomal dominant|Neonatal
Infancy|609153 +90045 90045|Congenital folate malabsorption|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|229050 +90050 90050|ROP
Retrolental fibroplasia|1-5 / 10 000|-|Infancy
Neonatal|133780 +90051 90051|-|1-5 / 10 000|-|-| +90052 90052|-|1-9 / 100 000|-|-| +90053 90053|-|1-9 / 1 000 000|Not applicable|-| +90056 90056|-|1-5 / 10 000|-|-| +90058 90058|-|1-5 / 10 000|-|-| +90059 90059|-|1-5 / 10 000|-|-| +90060 90060|-|1-9 / 100 000|-|-| +90061 90061|Non-infectious choroiditis|1-5 / 10 000|-|-| +90062 90062|Acute hepatic failure|1-5 / 10 000|-|-| +90064 90064|-|1-5 / 10 000|-|-| +90065 90065|-|1-5 / 10 000|-|-| +90066 90066|-|1-5 / 10 000|-|-| +90068 90068|-|-|-|All ages| +90069 90069|-|-|-|All ages| +90073 90073|-|-|-|-| +90076 90076|-|1-5 / 10 000|-|-| +90077 90077|-|-|-|-| +90078 90078|Invasive infections due to VRE|-|-|-| +90079 90079|-|1-9 / 1 000 000|-|-| +90080 90080|-|1-5 / 10 000|-|-| +90081 90081|-|1-5 / 10 000|-|-| +901 901|Eosinophilic cellulitis|<1 / 1 000 000|Not applicable|Adult| +90103 90103|Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers|-|Autosomal recessive|-|214370 +90114 90114|CMTDI|Unknown|Autosomal dominant|Childhood
Adolescent
Adult| +90117 90117|HMSNP
Hereditary motor and sensory neuropathy, proximal type|Unknown|Autosomal dominant|-|604484 +90118 90118|AR-CMT2, Ouvrier type
Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type
SEOAN due to MFN2 deficiency|-|-|-| +90119 90119|AR-CMT2 with acrodystrophy
Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy
Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy
HMSN with acrodystrophy|-|-|-| +90120 90120|CMT6
Charcot-Marie-Tooth disease type 6
Peripheral neuropathy and optic atrophy|-|Autosomal dominant|-|601152 616505 +90153 90153|-|-|Autosomal recessive|-|248370 +90154 90154|-|-|Autosomal recessive|-|608612 +90156 90156|Lipodystrophia centrifugalis abdominalis infantilis|-|-|-| +90157 90157|-|-|-|-| +90158 90158|-|-|-|-| +90159 90159|-|-|-|-| +90160 90160|-|-|-|-| +90186 90186|Hereditary lymphedema type II
Late-onset primary lymphedema
Meige lymphedema|Unknown|-|-|153200 +902 902|Adult progeria
WS|1-9 / 1 000 000|Autosomal recessive|Adolescent
Adult|277700 +90280 90280|-|-|-|-|610448 614415 +90281 90281|-|-|-|-| +90282 90282|-|-|-|-| +90283 90283|-|-|-|-| +90285 90285|Lupus erythematosus profundus|-|-|-| +90287 90287|-|-|-|-| +90289 90289|Localized fibrosing scleroderma|1-9 / 100 000|Not applicable|All ages| +90290 90290|Calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome|1-9 / 100 000|Multigenic/multifactorial
or Not applicable|Adult|181750 +90291 90291|Systemic scleroderma|1-5 / 10 000|Multigenic/multifactorial
or Not applicable|Adult|181750 +903 903|Hereditary von Willebrand disease|1-5 / 10 000|Autosomal dominant
or Autosomal recessive|All ages|193400 277480 314560 613554 +90301 90301|-|<1 / 1 000 000|-|Adult|200170 +90307 90307|-|-|Autosomal dominant
or Not applicable|Infancy
Neonatal|608355 +90308 90308|-|<1 / 1 000 000|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal|149000 +90309 90309|EDS I|1-9 / 100 000|Autosomal dominant|Infancy
Neonatal| +90318 90318|EDS II|-|Autosomal dominant|Infancy
Neonatal| +90321 90321|Cockayne syndrome type I|-|-|-|133540 216400 +90322 90322|Cockayne syndrome type II|-|Autosomal recessive|-|133540 216400 +90324 90324|Cockayne syndrome type III|-|-|-|133540 216400 216411 +90340 90340|-|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal|186580 +90342 90342|XPV|<1 / 1 000 000|Autosomal recessive|Adolescent
Adult|278750 +90348 90348|ADCL|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|123700 614434 616603 +90349 90349|ARCL1
Autosomal recessive cutis laxa with severe systemic involvement
Autosomal recessive cutis laxa, pulmonary emphysema type|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|219100 614437 +90350 90350|ARCL2
Cutis laxa with joint laxity and developmental delay|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +90354 90354|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|229200 614170 +90362 90362|Waldmann disease|Unknown|-|All ages|152800 +90363 90363|-|-|-|-| +90368 90368|Hereditary hypotrichosis simplex of the scalp|Unknown|Autosomal dominant|Childhood|146520 613981 +90389 90389|-|-|-|-| +90390 90390|-|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|-|107000 614149 +90393 90393|Atypical tuberous myxedema of Jadassohn-Dosseker|-|-|-| +90394 90394|-|-|-|-| +90395 90395|Cutaneous mucinosis of infancy|-|-|-| +90396 90396|-|-|-|-| +90397 90397|-|-|-|-| +90398 90398|-|<1 / 1 000 000|-|Adult
Elderly| +90399 90399|-|<1 / 1 000 000|-|Adult
Elderly| +904 904|Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome|Unknown|Not applicable
or Unknown|Neonatal
Antenatal|194050 +90400 90400|-|<1 / 1 000 000|-|Adolescent
Adult
Elderly| +905 905|Hepatolenticular degeneration|1-9 / 100 000|Autosomal recessive|Childhood|277900 +906 906|Eczema-thrombocytopenia-immunodeficiency syndrome
WAS|1-9 / 1 000 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive
or Not applicable|Infancy
Neonatal|277970 301000 600903 614493 +90625 90625|X-linked isolated neurosensory deafness type DFN
X-linked isolated neurosensory hearing loss type DFN
X-linked isolated sensorineural deafness type DFN
X-linked isolated sensorineural hearing loss type DFN
X-linked non-syndromic neurosensory deafness type DFN
X-linked non-syndromic neurosensory hearing loss type DFN
X-linked non-syndromic sensorineural hearing loss type DFN|Unknown|X-linked recessive|Childhood|300030 300066 300914 304500 +90635 90635|Autosomal dominant isolated neurosensory deafness type DFNA
Autosomal dominant isolated neurosensory hearing loss type DFNA
Autosomal dominant isolated sensorineural deafness type DFNA
Autosomal dominant isolated sensorineural hearing loss type DFNA
Autosomal dominant non-syndromic neurosensory deafness type DFNA
Autosomal dominant non-syndromic neurosensory hearing loss type DFNA
Autosomal dominant non-syndromic sensorineural hearing loss type DFNA|Unknown|Autosomal dominant|Childhood|124900 600101 600652 600965 600994 601316 601317 601369 601412 601543 601544 601868 602459 603622 603964 604717 605192 605583 606012 606282 606346 606451 606705 607017 607197 607453 607683 607841 608224 608372 608394 608641 608645 608652 609129 609965 612431 612642 612643 612644 613074 613558 614152 614211 614614 615629 615649 615654 616044 616340 616357 616697 616707 616968 616969 +90636 90636|Autosomal recessive isolated neurosensory deafness type DFNB
Autosomal recessive isolated sensorineural deafness type DFNB
Autosomal recessive non-syndromic neurosensory deafness type DFNB|Unknown|Autosomal recessive|Infancy
Neonatal|220290 600060 600316 600791 600792 600971 600974 601071 601072 601386 601869 602092 603010 603098 603629 603678 603720 604060 605428 605818 607039 607084 607101 607239 607821 608219 608264 608265 608565 608653 609006 609439 609533 609646 609647 609706 609823 609941 609946 609952 610143 610153 610154 610212 610220 610248 610265 610419 611022 611451 612433 612645 612789 613079 613285 613307 613391 613392 613453 613685 613718 613865 613916 614035 614414 614617 614861 614899 614934 614944 614945 615429 615540 615837 615974 616042 616515 616705 616958 +90641 90641|Isolated mitochondrial neurosensory deafness
Isolated mitochondrial sensorineural deafness
Mitochondrial non-syndromic neurosensory deafness|Unknown|Mitochondrial inheritance|Childhood|221745 500008 +90642 90642|-|-|-|-| +90646 90646|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|304350 +90647 90647|Long QT interval-deafness syndrome|1-9 / 1 000 000|Autosomal recessive|Childhood|220400 612347 +90650 90650|OPD I syndrome
OPD syndrome 1
Taybi syndrome|-|X-linked dominant|-|311300 +90652 90652|OPD II syndrome
OPD syndrome 2|<1 / 1 000 000|X-linked dominant|Neonatal|304120 +90653 90653|-|-|Autosomal dominant|-|108300 609508 +90654 90654|-|-|Autosomal dominant|-|604841 +90658 90658|CMT1E
Charcot-Marie-Tooth disease-deafness syndrome|-|Autosomal dominant|Childhood
Infancy|118300 +90673 90673|-|Unknown|Autosomal recessive
or Autosomal dominant|Infancy
Neonatal|275200 +90674 90674|Isolated TSH deficiency|Unknown|Autosomal recessive|Infancy
Neonatal|275100 +90692 90692|-|-|-|-| +90695 90695|-|-|X-linked recessive
or Autosomal recessive|-|262600 312000 +90771 90771|DSD|-|-|-| +90790 90790|CLAH|Unknown|Autosomal recessive|Infancy
Neonatal|201710 +90791 90791|CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|201810 +90793 90793|CAH due to 17-alpha-hydroxylase deficiency
Combined 17-hydroxylase/17,20-lyase deficiency|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal|202110 +90794 90794|Classic 21-OHD CAH|1-9 / 100 000|Autosomal recessive|Antenatal
Neonatal|201910 +90795 90795|CAH due to 11-beta-hydroxylase deficiency
CYP11B1 deficiency|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal|202010 +90797 90797|PAIS
Partial androgen resistance syndrome|Unknown|X-linked recessive|All ages|312300 +908 908|FRAXA syndrome
FXS
FraX syndrome
Martin-Bell syndrome|1-5 / 10 000|X-linked dominant|Neonatal
Infancy
Childhood|300624 +909 909|CTX
Sterol 27-hydroxylase deficiency|Unknown|Autosomal recessive|Infancy
Neonatal|213700 +90970 90970|-|1-9 / 1 000 000|-|All ages| +91 91|Congenital estrogen deficiency|<1 / 1 000 000|Autosomal recessive|All ages|613546 +910 910|XP|-|Autosomal recessive|All ages|278700 278720 278730 278740 278760 278780 610651 +91024 91024|AR-CMT2
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2|-|Autosomal recessive|-| +91088 91088|-|-|-|-| +911 911|Zeta-associated-protein 70 deficiency|Unknown|Autosomal recessive|Childhood|269840 +91127 91127|-|-|-|-| +91130 91130|-|<1 / 1 000 000|Autosomal recessive|Neonatal|610773 +91131 91131|CDG syndrome type Im
CDG-Im
CDG1M
Carbohydrate deficient glycoprotein syndrome type Im
Congenital disorder of glycosylation type 1m
Congenital disorder of glycosylation type Im
Dolichol kinase deficiency
Hypotonia and ichthyosis due to dolichol phosphate deficiency|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|610768 +91132 91132|Hypotrichosis-congenital ichthyosis syndrome
IFAH syndrome
IHS
Ichthyosis-follicular atrophoderma-hypotrichosis syndrome
Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|602400 +91133 91133|-|<1 / 1 000 000|-|Childhood| +91135 91135|PXE-like syndrome
Pseudoxanthoma elasticum-like syndrome|<1 / 1 000 000|Autosomal recessive
or Unknown|Childhood
Adolescent|610842 +91136 91136|Acquired Fanconi syndrome secondary to monoclonal gammopathy
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome|<1 / 1 000 000|Not applicable|Adult| +91137 91137|Immunotactoid or fibrillary glomerulonephritis|<1 / 1 000 000|Not applicable|Adult| +91138 91138|Essential cryoglobulinemia
Essential mixed cryoglobulinemia
MC
Mixed cryoglobulinemia
Primary cryoglobulinemia|Unknown|-|All ages|123550 +91139 91139|Cryoglobulinemia type 1|Unknown|-|-| +91140 91140|-|-|-|-| +912 912|Cerebrohepatorenal syndrome
ZS|Unknown|Autosomal recessive|Neonatal|214100 214110 614859 614862 614866 614870 614872 614876 614882 614883 614886 614887 +913 913|Gastrinoma|1-9 / 100 000|Not applicable|Adult| +91347 91347|Pituitary thyrotrophic adenoma
TSH-oma
Thyroid stimulating hormone-secreting pituitary adenoma
Thyrotroph adenoma|-|-|-| +91348 91348|Functioning pituitary gonadotropic adenoma|-|-|-| +91349 91349|NFPA|1-5 / 10 000|Not applicable|-| +91350 91350|-|-|-|-| +91351 91351|-|-|-|-| +91352 91352|Intracranial germinoma|-|Not applicable|Adolescent
Childhood
Adult| +91354 91354|Hypopituitarism due to empty sella turcica syndrome|-|-|-| +91355 91355|-|-|-|-| +91357 91357|-|-|-|-| +91358 91358|-|-|-|-| +91359 91359|CPI|Unknown|Not applicable|Infancy
Neonatal| +91364 91364|NSIP
Non-specific idiopathic interstitial pneumonia|-|-|-| +91365 91365|Acquired ciliary dyskinesia
SCD|-|-|-| +91378 91378|Familial angioneurotic edema
HAE
Hereditary angioneurotic edema
Hereditary bradykinine-induced angioedema
Hereditary non histamine-induced angioedema|1-9 / 100 000|Autosomal dominant|All ages|106100 610618 +91385 91385|AAE
Acquired C1 inhibitor deficiency
Acquired angioneurotic edema
Acquired bradykinine-induced angioedema
Acquired non histamine-induced angioedema|Unknown|Not applicable|Adult|300909 +91387 91387|Familial TAAD|-|Autosomal dominant|-|132900 607086 607087 609192 610168 611788 613780 614816 615436 615582 616166 617168 +91396 91396|-|<1 / 1 000 000|Autosomal dominant|Neonatal
Antenatal|123570 +91397 91397|-|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Neonatal| +91411 91411|-|Unknown|Autosomal dominant
or X-linked recessive|Infancy
Neonatal|178300 300245 616219 +91412 91412|Jaw-winking syndrome
Mandibulo-palpebral synkinesis-ptosis syndrome
Marcus-Gunn phenomenon|Unknown|Autosomal dominant|Infancy
Neonatal|154600 +91413 91413|Congenital Claude-Bernard-Horner syndrome|-|-|-|143000 +91414 91414|Epithelioma calcificans of Malherbe
Pilomatricoma|Unknown|Not applicable|Childhood
Adolescent
Adult|132600 +91416 91416|-|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|103420 601549 +91481 91481|Ring dermoid syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|180550 +91483 91483|-|-|Autosomal dominant|Neonatal|137600 601631 602482 +91489 91489|Congenital anterior megalophthalmia|-|X-linked recessive|-|309300 +91490 91490|-|-|-|-|181700 +91491 91491|-|-|-|-| +91492 91492|-|-|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Infancy
Neonatal|115650 115660 115665 115700 115800 115900 116100 116200 116300 116400 116600 116700 116800 212500 302200 600881 601202 601547 601885 604219 604307 605387 605728 605749 607304 609376 609741 610019 610202 610425 610623 611391 611544 611597 612968 613763 614422 614691 615188 615274 615277 616279 616509 616851 +91494 91494|-|<1 / 1 000 000|Autosomal recessive|Neonatal|216800 +91495 91495|Congenital retinal detachment
NCRNA disease
Non-syndromic congenital retinal non-attachment
PFVS
PHPV
Persistent fetal vasculature syndrome|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|221900 611308 +91496 91496|-|<1 / 1 000 000|Autosomal dominant|-|193230 +91498 91498|-|-|-|-|136480 +915 915|Aarskog syndrome
Faciodigitogenital syndrome
Faciogenital dysplasia|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Childhood|100050 305400 +91500 91500|Acute tubulointerstitial nephritis and uveitis syndrome
TINU syndrome|-|-|-|607665 +91546 91546|Lyme borreliosis|Unknown|Not applicable|All ages| +91547 91547|-|Unknown|Not applicable|All ages| +916 916|Aase-Smith I syndrome
Hydrocephalus-cleft palate-joint contractures syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal
Antenatal|147800 +92 92|Juvenile chronic arthritis
Juvenile rheumatoid arthritis|Unknown|-|Childhood| +920 920|-|<1 / 1 000 000|Autosomal dominant|Neonatal
Antenatal|200110 +92050 92050|Congenital familial intractable diarrhea with epithelial or epithelium abnormalities
IED
Tufting enteropathy|Unknown|Autosomal recessive|All ages|613217 +921 921|CHARGE-like syndrome
Cleft palate-coloboma-deafness syndrome|<1 / 1 000 000|X-linked recessive|Antenatal|302905 +922 922|-|<1 / 1 000 000|-|Neonatal| +926 926|Catalase deficiency|1-9 / 100 000|Autosomal recessive|All ages|614097 +927 927|NAGS deficiency|<1 / 1 000 000|Autosomal recessive|All ages|237310 +929 929|-|<1 / 1 000 000|Autosomal recessive|Neonatal|200450 +93 93|Aspartylglucosaminidase deficiency|Unknown|Autosomal recessive|Childhood|208400 +930 930|Achalasia cardia
Idiopathic achalasia of esophagus
Primary achalasia|1-9 / 100 000|Autosomal recessive
or Not applicable|All ages|200400 +931 931|Acheiropody|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|200500 +93100 93100|-|Unknown|Autosomal dominant|All ages
Antenatal| +93101 93101|-|Unknown|Not applicable
or Autosomal dominant|All ages| +93108 93108|-|Unknown|Not applicable|All ages
Antenatal| +93109 93109|-|<1 / 1 000 000|Unknown|All ages| +93110 93110|PUV|1-9 / 100 000|Not applicable|Antenatal
Neonatal| +93111 93111|HNF1B-MODY
MODY5
RCAD syndrome
Renal cysts-maturity-onset diabetes of the young syndrome
Renal dysfunction-early-onset diabetes syndrome|1-9 / 1 000 000|Autosomal dominant|Childhood
Adolescent
Adult|137920 616026 +93114 93114|CMTDIE
Charcot-Marie-Tooth disease-nephropathy syndrome|<1 / 1 000 000|Autosomal dominant
or Not applicable|No data available|614455 +93126 93126|-|Unknown|Not applicable|Childhood
Adolescent
Adult
Elderly| +93160 93160|HVDRR
Hereditary vitamin D-resistant rickets
VDDR II
VDRR II
Vitamin D-dependent rickets type II
Vitamin D-resistant rickets type II|Unknown|Autosomal recessive|Infancy
Neonatal|277440 600785 +93164 93164|TPHA|-|-|-| +93172 93172|-|1-5 / 10 000|Not applicable|All ages| +93173 93173|-|Unknown|-|All ages| +93176 93176|-|-|-|-| +93177 93177|-|-|-|-| +932 932|-|Unknown|Autosomal dominant
or Autosomal recessive|Neonatal
Antenatal|200600 200610 600972 +93206 93206|Idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis|-|Unknown|Childhood| +93207 93207|Steroid-sensitive MCNS|-|Unknown|Childhood| +93209 93209|-|-|Unknown|Childhood| +93213 93213|Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis|-|Autosomal dominant
or Autosomal recessive|-| +93214 93214|-|-|Autosomal dominant
or Autosomal recessive|-| +93216 93216|-|-|Autosomal dominant
or Autosomal recessive|-| +93217 93217|-|-|Autosomal dominant
or Autosomal recessive|-| +93218 93218|Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis|-|Not applicable|-| +93220 93220|-|-|Not applicable|-| +93221 93221|-|-|Not applicable|-| +93222 93222|-|-|Not applicable|-| +93256 93256|FXTAS syndrome|1-9 / 100 000|X-linked dominant|Adult|300623 +93258 93258|Classic Pfeiffer syndrome|Unknown|Autosomal dominant
or Not applicable|Antenatal
Neonatal| +93259 93259|-|Unknown|Autosomal dominant
or Not applicable|Antenatal
Neonatal| +93260 93260|-|Unknown|Autosomal dominant
or Not applicable|Antenatal
Neonatal| +93262 93262|Crouzon-dermoskeletal syndrome|Unknown|Autosomal dominant
or Not applicable|Neonatal|612247 +93267 93267|-|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|607161 +93268 93268|Short rib-polydactyly syndrome type 4|-|Autosomal recessive|-|269860 +93269 93269|Short rib-polydactyly syndrome type 2|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|263520 613091 +93270 93270|Short rib-polydactyly syndrome type 1|-|Autosomal recessive|-|613091 +93271 93271|Short rib-polydactyly syndrome type 3|-|Autosomal recessive|Antenatal
Neonatal|613091 614091 615503 615633 +93274 93274|Cloverleaf skull-micromelic bone dysplasia syndrome
TD2
Thanatophoric dwarfism type 2
Thanatophoric dwarfism-cloverleaf skull syndrome|Unknown|Autosomal dominant
or Not applicable|Infancy
Neonatal|156830 187601 +93276 93276|-|-|Unknown|-| +93277 93277|Jaffe-Lichtenstein disease|-|-|-| +93279 93279|-|-|Autosomal dominant|-|604864 +93282 93282|Spondyloepimetaphyseal dysplasia, Pakistani type|<1 / 1 000 000|Autosomal recessive|-|612847 +93283 93283|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|608361 +93284 93284|-|1-9 / 1 000 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Adolescent
Adult|184100 271600 313400 +93292 93292|Pancreatic adenoma|-|-|-| +93293 93293|Duane-radial ray syndrome|-|Autosomal dominant|-|607323 +93296 93296|Achondrogenesis, Langer-Saldino type|Unknown|Autosomal dominant|Antenatal
Neonatal|200610 +93297 93297|-|Unknown|Autosomal dominant|Infancy
Neonatal|200610 +93298 93298|Achondrogenesis, Parenti-Fraccaro type|Unknown|Autosomal recessive|Antenatal
Neonatal|600972 +93299 93299|Achondrogenesis, Houston-Harris type|Unknown|Autosomal recessive|Antenatal
Neonatal|200600 +93302 93302|Brachyolmia type 2|-|Autosomal recessive|Childhood|613678 +93304 93304|Brachyolmia type 3|-|Autosomal dominant|Childhood|113500 +93307 93307|Autosomal recessive multiple epiphyseal dysplasia
EDM4
MED4
Polyepiphyseal dysplasia type 4
rMED|Unknown|Autosomal recessive|Childhood|226900 +93308 93308|EDM1
MED1
Polyepiphyseal dysplasia type 1|Unknown|Autosomal dominant|Childhood|132400 +93311 93311|EDM5
MED5
Polyepiphyseal dysplasia type 5|<1 / 1 000 000|Autosomal dominant|Childhood|607078 +93314 93314|-|<1 / 1 000 000|Autosomal dominant|-|184252 +93315 93315|Spondylometaphyseal dysplasia, Sutcliffe type|<1 / 1 000 000|Autosomal dominant|-|184255 +93316 93316|Spondylometaphyseal dysplasia with severe genu valgum
Spondylometaphyseal dysplasia, Algerian type|<1 / 1 000 000|Autosomal dominant|-|184253 +93317 93317|-|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|250220 +93320 93320|Congenital longitudinal deficiency of the ulna
Ulnar clubhand
Ulnar longitudinal meromelia|1-9 / 1 000 000|-|Infancy
Neonatal| +93321 93321|Congenital longitudinal deficiency of the radius
Radial clubhand
Radial longitidinal meromelia
Radial ray agenesis|1-9 / 100 000|-|Infancy
Neonatal| +93322 93322|Congenital absence of tibia
Congenital aplasia and dysplasia of the tibia with intact fibula
Congenital longitudinal deficiency of the tibia
Tibial longitudinal meromelia|-|Not applicable
or Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|275220 +93323 93323|Congenital longitudinal deficiency of the fibula
Fibular longitudinal meromelia|1-9 / 100 000|-|-| +93324 93324|-|-|Autosomal recessive|-|244460 +93325 93325|-|-|Autosomal dominant|-|127000 +93328 93328|-|-|Autosomal dominant|-|164745 +93329 93329|Micromelic dysplasia-dislocation of radius syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|258315 +93333 93333|Cousin syndrome
Familial pelvis-scapular dysplasia|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|260660 +93334 93334|-|-|Autosomal recessive|-|174200 263450 602085 607324 608562 615226 +93335 93335|-|-|-|-|174200 +93336 93336|PPD2
Preaxial polydactyly type 2|-|Autosomal dominant|-|174500 +93337 93337|PPD3
Preaxial polydactyly type 3|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|174600 +93338 93338|PPD4
Preaxial polydactyly type 4|-|Autosomal dominant|Infancy
Neonatal|174700 +93339 93339|PPD1
Preaxial polydactyly type 1|-|Autosomal dominant|Infancy
Neonatal|174400 +93346 93346|-|<1 / 1 000 000|Autosomal dominant|-|184250 +93347 93347|Spondyloepimetaphyseal dysplasia, Menger type
Spondyloepimetaphyseal dysplasia, anauxetic type|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|607095 +93349 93349|-|-|X-linked recessive|-|300106 +93351 93351|SEMD, Irapa type|Unknown|Autosomal recessive|-|271650 +93352 93352|SEMD, Shohat type|<1 / 1 000 000|-|-|602557 +93356 93356|SEMD type 2
SEMD, Missouri type
Spondyloepimetaphyseal dysplasia type 2|<1 / 1 000 000|Autosomal dominant|-|602111 +93357 93357|Spondyloepimetaphyseal dysplasia, Sponastrime type|-|Autosomal recessive|-|271510 +93358 93358|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|271665 +93359 93359|SEMD-JL
SEMDJL1
Spondyloepimetaphyseal dysplasia with joint laxity type 1|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|271640 +93360 93360|SEMD-MD
SEMDJL2
Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type
Spondyloepimetaphyseal dysplasia with joint laxity type 2
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|603546 +93372 93372|FHH type 1|1-9 / 100 000|Autosomal dominant|All ages|145980 +93382 93382|Osebold-Remondini syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|112910 +93383 93383|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|113000 +93384 93384|-|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|113100 +93387 93387|-|Unknown|Autosomal dominant|Infancy
Neonatal|113300 613382 +93388 93388|Brachydactyly, Farabee type|Unknown|Autosomal dominant|Infancy
Neonatal|112500 607004 615072 616849 +93389 93389|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal| +93394 93394|Brachydactyly, Temtamy type
Brachymesophalangy II and V|Unknown|Autosomal dominant|Infancy
Neonatal|112800 +93395 93395|Brachydactyly types B and E combined
Pitt-Williams brachydactyly|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|112440 +93396 93396|Brachydactyly, Mohr-Wriedt type|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|112600 +93397 93397|Brachydactyly, Smorgasbord type|<1 / 1 000 000|-|Infancy
Neonatal| +93398 93398|-|-|-|-|137360 +93399 93399|-|-|Autosomal recessive|-| +93400 93400|-|-|Autosomal recessive|-| +93402 93402|-|1-5 / 10 000|Autosomal dominant|Infancy
Neonatal|185900 609815 +93403 93403|Synpolydactyly|Unknown|Autosomal dominant|Infancy
Neonatal|186000 608180 610234 +93404 93404|SD3
Syndactyly of fingers 4 and 5|Unknown|Autosomal dominant|Infancy
Neonatal|186100 +93405 93405|Polysyndactyly, Haas type|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|186200 +93406 93406|Postaxial syndactyly with metacarpal synostosis
SD5|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|186300 +93409 93409|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|610713 +93419 93419|-|-|-|-| +93420 93420|-|-|-|-| +93421 93421|-|-|-|-| +93422 93422|-|-|-|-| +93423 93423|-|-|-|-| +93424 93424|-|-|-|-| +93425 93425|Bone filaminopathy|-|-|-| +93426 93426|SRP
Short-rib dysplasia (with or without polydactyly)|-|-|-| +93429 93429|-|-|-|-| +93430 93430|-|-|-|-| +93434 93434|-|-|-|-| +93436 93436|-|-|-|-| +93437 93437|-|-|-|-| +93438 93438|-|-|-|-| +93439 93439|-|-|-|-| +93440 93440|-|-|-|-| +93441 93441|Primary osteodysplasia with multiple joint dislocations
Primary skeletal dysplasia with multiple joint dislocations|-|-|-| +93442 93442|CDP|-|-|-| +93443 93443|-|-|-|-| +93444 93444|Primary osteodysplasia with increased bone density
Primary skeletal dysplasia with increased bone density|-|-|-| +93446 93446|Primary osteodysplasia with decreased bone density
Primary skeletal dysplasia with decreased bone density|-|-|-| +93447 93447|Primary osteodysplasia with defective bone mineralization
Primary skeletal dysplasia with defective bone mineralization|-|-|-| +93448 93448|Dysostosis multiplex|-|-|-| +93449 93449|-|-|-|-| +93450 93450|Primary osteodysplasia with disorganized development of skeletal components
Primary skeletal dysplasia with disorganized development of skeletal components|-|-|-| +93451 93451|-|-|-|-| +93453 93453|-|-|-|-| +93454 93454|-|-|-|-| +93455 93455|-|-|-|-| +93457 93457|Non-syndromic limb hypoplasia|-|-|-| +93458 93458|-|-|-|-| +93459 93459|-|-|-|-| +93460 93460|-|-|-|-| +93461 93461|-|-|-|-| +93465 93465|-|-|-|-| +93473 93473|Hurler disease
MPS1H
MPSIH
Mucopolysaccharidosis type 1H
Mucopolysaccharidosis type IH|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal|607014 +93474 93474|MPS1S
MPSIS
Mucopolysaccharidosis type 1S
Mucopolysaccharidosis type IS|-|Autosomal recessive|Adolescent
Childhood
Adult|607016 +93476 93476|MPS1H/S
MPSIH/S
Mucopolysaccharidosis type 1H/S
Mucopolysaccharidosis type IH/S|1-9 / 1 000 000|Autosomal recessive|Infancy
Neonatal|607015 +935 935|Achondroplasia-SCID syndrome
Achondroplasia-Swiss type agammaglobulinemia syndrome
Achondroplasia-severe combined immunodeficiency syndrome
Immunodeficiency-short limb dwarfism syndrome
Short limb skeletal dysplasia with SCID|-|-|-|200900 +93545 93545|CAKUT
Congenital anomalies of kidney and urinary tract|-|-|-| +93546 93546|-|-|-|-| +93547 93547|-|-|-|-| +93548 93548|-|-|-|-| +93550 93550|-|-|-|-| +93551 93551|-|-|-|-| +93552 93552|SLE, pediatric onset|-|-|-| +93554 93554|MC type II|Unknown|-|All ages| +93555 93555|MC type III|Unknown|-|All ages| +93556 93556|HCDD|-|-|-| +93557 93557|LHCDD|-|-|-| +93558 93558|LCDD|-|-|-| +93560 93560|Apolipoprotein A-I amyloidosis
Familial amyloid nephropathy due to apolipoprotein A-I variant
Familial renal amyloidosis due to apolipoprotein A-I variant
Hereditary amyloid nephropathy due to apolipoprotein A-I variant
Hereditary renal amyloidosis due to apolipoprotein A-I variant|-|Autosomal dominant|-| +93561 93561|Familial amyloid nephropathy due to lysozyme variant
Familial renal amyloidosis due to lysozyme variant
Hereditary amyloid nephropathy due to lysozyme variant
Hereditary renal amyloidosis due to lysozyme variant
Lysozyme amyloidosis|<1 / 1 000 000|Autosomal dominant|-| +93562 93562|Familial amyloid nephropathy due to fibrinogen A alpha-chain variant
Fibrinogen A alpha-chain amyloidosis
Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant
Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant|-|Autosomal dominant|-| +93568 93568|Juvenile PM|-|-|-| +93569 93569|Rhizomelic pseudopolyarthritis|-|-|-| +93571 93571|Membranoproliferative glomerulonephritis type 2|1-9 / 1 000 000|Autosomal recessive|Childhood|609814 +93573 93573|-|-|-|-| +93575 93575|Atypical HUS with C3 anomaly
D-HUS with C3 anomaly
Hemolytic-uremic syndrome without diarrhea with C3 anomaly
aHUS with C3 anomaly|-|-|-|612925 +93576 93576|Atypical HUS with MCP/CD46 anomaly
D-HUS with MCP/CD46 anomaly
Hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly
aHUS with MCP/CD46 anomaly|-|-|-|612922 +93578 93578|Atypical HUS with B factor anomaly
D-HUS with B factor anomaly
Hemolytic-uremic syndrome without diarrhea with B factor anomaly
aHUS with B factor anomaly|-|-|-|612924 +93579 93579|Atypical HUS with H factor anomaly
D-HUS with H factor anomaly
Hemolytic-uremic syndrome without diarrhea with H factor anomaly
aHUS with H factor anomaly|-|-|-|235400 609814 +93580 93580|Atypical HUS with I factor anomaly
D-HUS with I factor anomaly
Hemolytic-uremic syndrome without diarrhea with I factor anomaly
aHUS with I factor anomaly|-|-|-|612923 +93581 93581|Atypical HUS with anti-factor H antibodies
D-HUS with anti-factor H antibodies
Hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies
aHUS with anti-factor H antibodies|-|-|-|235400 +93583 93583|Congenital ADAMTS-13 deficiency
Congenital TTP
Familial TTP
Upshaw-Schulman syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal
Childhood
Adult|274150 +93585 93585|Acquired TTP
Autoimmune thrombotic thrombocytopenic purpura|Unknown|Multigenic/multifactorial|All ages| +93587 93587|-|-|-|-| +93589 93589|-|-|Autosomal recessive|-| +93591 93591|Autosomal recessive infantile NPHP
Autosomal recessive infantile nephronophthisis|-|-|-| +93592 93592|-|-|Autosomal recessive|-| +93593 93593|-|-|-|-| +93594 93594|-|-|Autosomal dominant|Childhood| +93598 93598|Glycolic aciduria
Peroxisomal alanine-glyoxylate aminotransferase deficiency|-|Autosomal recessive|All ages|259900 +93599 93599|D-glycerate dehydrogenase deficiency
L-glyceric aciduria|<1 / 1 000 000|Autosomal recessive|Childhood|260000 +93600 93600|-|<1 / 1 000 000|Autosomal recessive|-|613616 +93601 93601|XDH deficiency
XO deficiency
XOR deficiency
Xanthine dehydrogenase deficiency
Xanthine oxidase deficiency
Xanthine oxidoreductase deficiency|-|Autosomal recessive|-|278300 +93602 93602|XDH and AOX dual deficiency
Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency|-|Autosomal recessive|-|603592 +93603 93603|-|-|-|-| +93604 93604|Bartter syndrome, furosemide type
Bartter syndrome, furosemide-amiloride type
Hyperprostaglandin E syndrome|Unknown|X-linked recessive
or Autosomal recessive|Antenatal
Neonatal
Infancy|241200 300971 601678 +93605 93605|Adult Bartter syndrome
Bartter syndrome type 3
Bartter syndrome type III|Unknown|Autosomal recessive|Infancy
Childhood
Adolescent
Adult|607364 +93606 93606|NSIAD|<1 / 1 000 000|X-linked recessive|Childhood|300539 +93607 93607|AR pRTA
Proximal renal tubular acidosis with ocular abnormalities and intellectual disability|Unknown|Autosomal recessive|Childhood|604278 +93608 93608|AD dRTA|Unknown|Autosomal dominant|Adolescent
Adult|179800 +93610 93610|dRTA with anemia|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|611590 +93612 93612|-|-|Autosomal recessive|-|220100 +93613 93613|-|-|Autosomal recessive
or Autosomal dominant|-|220100 +93614 93614|-|-|-|-| +93616 93616|Alpha-thalassemia intermedia
HbH disease|-|Autosomal recessive|All ages|613978 +93618 93618|-|-|-|-| +93619 93619|-|-|-|-| +93622 93622|Nephrolithiasis type 1|Unknown|X-linked recessive|Childhood|300009 300554 308990 310468 +93623 93623|Nephrolithiasis type 2|Unknown|X-linked recessive|Childhood|300555 +93626 93626|-|-|-|-| +93665 93665|-|-|-|-| +93672 93672|Juvenile DM|Unknown|Not applicable|Infancy
Childhood
Adolescent| +93682 93682|-|-|-|-| +93685 93685|-|1-9 / 100 000|-|-| +93686 93686|MCD
Multicentric giant lymph node hyperplasia|-|-|-|148000 +93890 93890|Malformation syndrome|-|-|-| +93921 93921|NF3
Neurilemmomatosis
Schwannomatosis|Unknown|Autosomal dominant|Adult
Elderly|162091 162260 615670 +93924 93924|-|1-9 / 100 000|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +93925 93925|-|1-9 / 100 000|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +93926 93926|MIH
MIH type HPE
MIHF
MIHV
Middle interhemispheric fusion variant
Middle interhemispheric variant of holoprosencephaly
Syntelencephaly|1-9 / 100 000|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +93928 93928|-|1-9 / 100 000|Multigenic/multifactorial|-| +93929 93929|OEIS complex
Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome|1-9 / 1 000 000|Multigenic/multifactorial|Infancy
Neonatal|258040 +93930 93930|Classic exstrophy of the bladder|1-9 / 100 000|Multigenic/multifactorial|Infancy
Neonatal|600057 +93937 93937|Congenital limb amputation|-|-|-|217100 +93938 93938|LTEC I
LTEC1|Unknown|-|Infancy
Neonatal| +93939 93939|LTEC II
LTEC2|Unknown|-|Infancy
Neonatal| +93940 93940|LTEC III
LTEC3|<1 / 1 000 000|-|Infancy
Neonatal|215800 +93941 93941|LTEC IV
LTEC4|<1 / 1 000 000|-|Infancy
Neonatal| +93942 93942|-|-|-|-| +93945 93945|-|-|-|Infancy| +93946 93946|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal| +93947 93947|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal| +93950 93950|-|-|X-linked recessive|-| +93951 93951|-|-|-|-| +93952 93952|MRXSH|-|X-linked recessive|Infancy|300423 +93953 93953|-|-|-|-|188455 +93958 93958|-|-|-|-| +93964 93964|Meige dystonia
Meige syndrome|-|-|-| +93969 93969|-|-|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +93970 93970|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|309580 +93971 93971|Chudley-Lowry syndrome|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|309580 +93972 93972|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|309580 +93973 93973|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|309580 +93974 93974|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|309580 +93975 93975|-|<1 / 1 000 000|X-linked recessive|Infancy
Neonatal|309580 +93976 93976|-|<1 / 1 000 000|-|Infancy
Neonatal|600674 +94 94|Astrocytic tumor|1-9 / 100 000|-|All ages|137800 +94056 94056|Humero-ulnar fusion|<1 / 1 000 000|Not applicable|No data available| +94058 94058|-|1-5 / 10 000|-|-| +94059 94059|-|1-5 / 10 000|-|-| +94063 94063|Del(12)(q14)
Deletion 12q14
Monosomy 12q14
Osteopoikilosis-short stature-intellectual disability syndrome|<1 / 1 000 000|Unknown|Childhood| +94064 94064|DIS|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy
Childhood|611102 +94065 94065|Del(15)(q24)
Monosomy 15q24|<1 / 1 000 000|Not applicable
or Unknown|Childhood|613406 +94066 94066|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal| +94068 94068|Congenital spondyloepiphyseal dysplasia
SEDC
Spranger-Wiedemann disease|Unknown|Autosomal dominant|Neonatal|183900 +94075 94075|Autoimmune enteropathy
Immune-mediated protracted diarrhea of infancy|-|-|-| +94080 94080|-|-|-|-| +94083 94083|Partington-Mulley syndrome
X-linked intellectual disability-dystonia-dysarthria syndrome|<1 / 1 000 000|X-linked recessive|Childhood|309510 +94086 94086|Drummond syndrome
Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome|Unknown|-|-|211000 +94087 94087|CHP
Winkelmann cytophagic panniculitis|<1 / 1 000 000|Unknown|-| +94088 94088|-|-|Autosomal recessive|-|220150 242050 307830 612076 +94089 94089|-|Unknown|Autosomal dominant
or Not applicable|Neonatal
Infancy
Childhood
Adolescent|603233 +94090 94090|-|Unknown|Not applicable|All ages|203330 +94091 94091|Amyotrophic lateral sclerosis, hemiplegic type|-|-|-| +94093 94093|-|1-5 / 10 000|-|-| +94095 94095|Casamassima-Morton-Nance syndrome|<1 / 1 000 000|-|-|271520 +941 941|D-glycerate kinase deficiency
D-glyceric acidemia|Unknown|Autosomal recessive|All ages|220120 +94122 94122|Cayman ataxia|Unknown|-|-|601238 +94124 94124|SCAN1|-|Autosomal recessive|-|607250 +94125 94125|MIRAS|-|Autosomal recessive|-| +94145 94145|ADCA1
ADCAI
Autosomal dominant cerebellar ataxia type 1
Cerebellar plus syndrome|Unknown|Autosomal dominant|All ages| +94147 94147|Ataxia with pigmentary retinopathy
Cerebellar syndrome-pigmentary maculopathy syndrome
SCA7|1-9 / 1 000 000|Autosomal dominant|Infancy
Childhood
Adolescent
Adult
Elderly|164500 +94148 94148|ADCA3
ADCAIII
Autosomal dominant cerebellar ataxia type 3
Pure cerebellar syndrome-mild pyramidal signs syndrome|Unknown|Autosomal dominant|Childhood
Adolescent
Adult
Elderly| +94149 94149|ADCA4
ADCAIV
Autosomal dominant cerebellar ataxia type 4|-|-|-| +94150 94150|-|-|Autosomal recessive|-|206800 +943 943|Malonyl-CoA decarboxylase deficiency|<1 / 1 000 000|Autosomal recessive|Childhood|248360 +945 945|Acrania|Unknown|Not applicable|Neonatal
Antenatal| +946 946|ACS
Acrocephalosyndactylia|Unknown|Autosomal dominant
or Not applicable|Neonatal
Antenatal| +949 949|Kaplan-Plauchu-Fitch syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|201050 +95 95|FA
FRDA|1-9 / 100 000|Autosomal recessive|Childhood
Adolescent|229300 601992 +950 950|Acrodysplasia
Arkless-Graham syndrome
Maroteaux-Malamut syndrome|Unknown|Autosomal dominant|Neonatal
Antenatal|101800 614613 +95157 95157|-|1-5 / 10 000|Autosomal dominant
or Autosomal recessive|All ages| +95159 95159|HEP|<1 / 1 000 000|Autosomal recessive|-|176100 +95161 95161|-|1-9 / 100 000|Autosomal dominant|All ages| +952 952|Curry-Hall syndrome
Weyers acrodental dysostosis
Weyers acrofacial dysostosis|Unknown|Autosomal dominant|Neonatal|193530 +95232 95232|PAFAH1B1-related lissencephaly|-|-|-|607432 +95409 95409|Acute adrenal failure
Acute adrenocortical insufficiency
Addisonian crisis
Adrenal crisis
Adrenocortical crisis|Unknown|Autosomal recessive
or X-linked dominant
or Not applicable|All ages| +95426 95426|-|1-5 / 10 000|-|-| +95427 95427|-|-|-|-| +95428 95428|CDG syndrome type IIh
CDG-IIh
CDG2H
Carbohydrate deficient glycoprotein syndrome type IIh
Congenital disorder of glycosylation type 2h
Congenital disorder of glycosylation type IIh|<1 / 1 000 000|Autosomal recessive|Childhood|611182 +95429 95429|-|<1 / 1 000 000|Autosomal dominant
or X-linked recessive
or Not applicable|Childhood|106050 300652 +95430 95430|Congenital major airway collapse|Unknown|No data available|Infancy| +95431 95431|Feto-fetal transfusion syndrome|-|-|-| +95432 95432|Mesulam syndrome
PPA|1-9 / 100 000|Multigenic/multifactorial
or Not applicable|Adult| +95433 95433|SCAR3|<1 / 1 000 000|Autosomal recessive|Childhood|271250 +95434 95434|SCAR4
SCASI|<1 / 1 000 000|Autosomal recessive|Adult|607317 +95443 95443|Midline heart|-|-|-| +95448 95448|-|-|-|-| +95449 95449|-|-|-|-| +95455 95455|SJS-TEN
Toxic epidermolysis|Unknown|Not applicable|All ages|608579 +95457 95457|Congenital unguarded tricuspid orifice|-|-|-| +95458 95458|-|-|-|-| +95459 95459|-|-|-|-| +95461 95461|-|-|-|-| +95462 95462|-|-|-|-| +95463 95463|-|-|-|-| +95464 95464|-|-|-|-| +95465 95465|-|-|-|-| +95474 95474|-|-|-|-| +95483 95483|-|-|-|-| +95484 95484|-|-|-|-| +95485 95485|Patent ductus arteriosus anomalies|-|-|-| +95486 95486|Premature closure of the patent ductus arteriosus|-|-|-| +95488 95488|-|-|-|-| +95491 95491|-|-|-|-| +95493 95493|-|-|-|-| +95494 95494|Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive|-|182230 262600 613038 613986 +95495 95495|-|-|-|-| +95496 95496|Ectopic neurohypophysis
PSIS|Unknown|Not applicable
or Autosomal dominant
or Autosomal recessive|Childhood| +95498 95498|Congenital anomaly of superior caval vein
Congenital anomaly of the SVC|-|-|-| +95499 95499|Congenital anomaly of the IVC
Congenital anomaly of the inferior caval vein|-|-|-| +955 955|Acrodentoosteodysplasia
Acroosteolysis with osteoporosis and changes in skull and mandible
Arthrodentoosteodysplasia
Cheney syndrome
Hajdu-Cheney syndrome|<1 / 1 000 000|Autosomal dominant|Infancy
Childhood|102400 102500 +95500 95500|-|-|-|-| +95501 95501|-|-|-|-| +95502 95502|-|-|-|-| +95503 95503|-|-|-|-| +95505 95505|-|-|-|-| +95506 95506|Autoimmune hypophysitis|Unknown|Not applicable|Adult| +95507 95507|-|-|-|-| +95510 95510|Atrial auricle anomaly|-|-|-| +95512 95512|Anterior pituitary hypophysitis|-|-|-| +95513 95513|Infundibulo-panhypophysitis|-|-|-| +956 956|-|<1 / 1 000 000|Not applicable|Neonatal| +95611 95611|-|-|-|-| +95613 95613|-|Unknown|Not applicable|All ages| +95617 95617|-|-|-|-| +95618 95618|-|-|-|-| +95619 95619|-|-|-|-| +95626 95626|Acquired CDI
Acquired neurogenic diabetes insipidus|Unknown|-|All ages| +95699 95699|Congenital adrenal hyperplasia due to cytochrome POR deficiency
POR deficiency
PORD|Unknown|Autosomal recessive|Infancy
Neonatal|613571 +957 957|F syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal
Antenatal|102510 +95700 95700|Familial adrenal hypoplasia with absent pituitary LH
Familial adrenal hypoplasia, miniature type|-|Autosomal recessive|-|202150 +95701 95701|-|-|-|-| +95702 95702|X-linked congenital adrenal hypoplasia|-|X-linked recessive|-|202155 300200 +95706 95706|Perineal, scrotal or penoscrotal hypospadias|-|-|-| +95707 95707|-|-|-|-| +95708 95708|-|Unknown|Not applicable
or Autosomal dominant|Childhood| +95709 95709|-|-|-|-| +95710 95710|-|-|-|-| +95711 95711|Primary congenital hypothyroidism due to developmental anomaly|1-5 / 10 000|-|-| +95712 95712|-|1-5 / 10 000|-|Infancy
Neonatal|218700 225250 +95713 95713|-|1-9 / 100 000|Autosomal dominant|-|218700 225250 +95714 95714|-|Unknown|-|-| +95715 95715|-|1-9 / 100 000|-|-| +95716 95716|Thyroid dyshormonogenesis|1-9 / 100 000|Autosomal recessive|-|274400 274500 274700 274800 274900 607200 +95717 95717|-|Unknown|-|-| +95718 95718|-|-|-|-| +95719 95719|-|1-5 / 10 000|-|-|218700 +95720 95720|-|1-9 / 100 000|-|-|218700 225250 +958 958|Split hand/split foot-mandibular hypoplasia syndrome|<1 / 1 000 000|Autosomal recessive|Neonatal
Antenatal|200980 +95854 95854|Levocardia-situs inversus|-|-|-| +959 959|-|<1 / 1 000 000|Autosomal dominant|Neonatal
Antenatal|607323 +96 96|AVED
Ataxia with isolated vitamin E deficiency
Familial isolated vitamin E deficiency
Friedreich-like ataxia
Isolated vitamin E deficiency|1-9 / 1 000 000|Autosomal recessive|All ages|277460 +96055 96055|Isochromosome 21|-|-|-| +96059 96059|-|-|-|-| +96060 96060|-|-|-|-| +96061 96061|Warkany syndrome|Unknown|Not applicable
or Unknown|Infancy
Neonatal| +96063 96063|-|-|-|-| +96068 96068|-|-|-|-| +96069 96069|Distal duplication 1p36
Telomeric duplication 1p36
Trisomy 1pter|-|-|-| +96070 96070|Distal duplication 2p
Telomeric duplication 2p
Trisomy 2pter|-|-|-| +96071 96071|Distal duplication 3p
Telomeric duplication 3p
Trisomy 3pter|-|-|-| +96072 96072|Distal duplication 4p
Distal trisomy 4p
Telomeric duplication 4p
Trisomy 4pter|-|-|-| +96074 96074|Distal duplication 7p
Telomeric duplication 7p
Trisomy 7pter|-|-|-| +96076 96076|-|-|-|-| +96078 96078|Distal duplication 16p
Distal trisomy 16p
Dup(16)(p13.3)
Telomeric duplication 16p
Trisomy 16pter|-|-|-|613458 +96092 96092|Invdupdel(8p)
Inverted 8p duplication/deletion syndrome|1-9 / 100 000|Not applicable
or Unknown|Infancy
Neonatal| +96094 96094|Distal duplication 2q
Telomeric duplication 2q
Trisomy 2qter|-|-|-| +96095 96095|Cornelia de Lange-like syndrome
Dup(3)(q26)
Trisomy 3q26|-|-|-| +96096 96096|Distal duplication 4q
Telomeric duplication 4q
Trisomy 4qter|-|-|-| +96097 96097|Distal duplication 5q
Telomeric duplication 5q
Trisomy 5qter|-|-|-| +96098 96098|Distal duplication 6q
Telomeric duplication 6q
Trisomy 6qter|-|-|-| +96100 96100|Distal duplication 8q
Telomeric duplication 8q
Trisomy 8qter|-|-|-| +96101 96101|Distal duplication 9q
Telomeric duplication 9q
Trisomy 9qter|-|-|-| +96102 96102|Distal duplication 10q
Telomeric duplication 10q
Trisomy 10qter|<1 / 1 000 000|-|Infancy
Neonatal| +96103 96103|Distal duplication 11q
Telomeric duplication 11q
Trisomy 11qter|-|-|-| +96105 96105|Distal duplication 13q
Telomeric duplication 13q
Trisomy 13qter|-|-|-| +96106 96106|Distal duplication 16q
Telomeric duplication 16q
Trisomy 16qter|-|-|-| +96107 96107|Distal duplication 20q
Telomeric duplication 20q
Trisomy 20qter|-|-|-| +96109 96109|Distal duplication 22q
Telomeric duplication 22q
Trisomy 22qter|-|-|-| +96112 96112|Non-distal duplication 9q
Non-telomeric trisomy 9q|-|-|-| +96121 96121|Dup(7)(q11.23)
Trisomy 7q11.23|-|-|-|609757 +96123 96123|Del(22)
Deletion 22|-|-|-| +96125 96125|6p subtelomeric deletion syndrome
6p25 microdeletion syndrome
Distal deletion 6p
Monosomy 6p25|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal|612582 +96126 96126|Distal deletion 7p
Monosomy 7pter
Telomeric deletion 7p|-|-|-| +96129 96129|Distal deletion 19p
Telomeric deletion 19p|-|-|-| +96136 96136|Non-distal deletion 7p
Non-telomeric monosomy 7p|-|-|-| +96145 96145|Distal deletion 4q
Monosomy 4qter
Telomeric deletion 4q|-|-|-| +96147 96147|9q subtelomeric deletion syndrome
9qSTDS
Kleefstra syndrome due to 9q subtelomeric deletion
Kleefstra syndrome due to del(9)(q34)
Kleefstra syndrome due to monosomy 9q34|<1 / 1 000 000|-|Infancy
Neonatal| +96148 96148|Distal deletion 10q
Monosomy 10qter
Telomeric deletion 10q|<1 / 1 000 000|Not applicable
or Unknown|Childhood|609625 +96149 96149|Distal deletion 12q
Monosomy 12qter
Telomeric deletion 12q|-|-|-| +96150 96150|Distal deletion 14q
Telomeric deletion 14q|-|-|-| +96152 96152|Distal deletion 20q
Monosomy 20qter
Telomeric deletion 20q|-|-|-| +96160 96160|Non-distal deletion 12q
Non-telomeric monosomy 12q|-|-|-| +96164 96164|Non-distal deletion 20q
Non-telomeric monosomy 20q|-|-|-| +96167 96167|Duplication 8q/deletion 8p
Rec(8) syndrome
Rec8 syndrome
Recombinant chromosome 8 syndrome
San Luis Valley syndrome|Unknown|Unknown|Infancy
Neonatal|179613 +96168 96168|Del(13)(q34)
Distal deletion 13q34
Subtelomeric deletion 13q34|-|-|-| +96169 96169|KdVS|1-9 / 100 000|Autosomal dominant|Infancy
Neonatal|610443 +96170 96170|Der(22)t(11;22) syndrome
Supernumerary der(22) syndrome|-|-|-|609029 +96171 96171|-|-|-|-| +96172 96172|-|-|-|-| +96173 96173|-|<1 / 1 000 000|-|Antenatal
Neonatal| +96175 96175|-|-|-|-| +96176 96176|-|-|-|-| +96177 96177|-|-|-|-| +96178 96178|-|-|-|-| +96179 96179|UPD(2)mat|-|-|-| +96180 96180|UPD(4)mat|-|-|-| +96181 96181|UPD(6)mat|-|-|-| +96182 96182|UPD(7)mat|-|-|-| +96183 96183|UPD(9)mat|-|-|-| +96184 96184|UPD(14)mat|-|-|Antenatal
Neonatal| +96185 96185|UPD(16)mat|-|-|Antenatal
Neonatal| +96186 96186|Maternal UPD(20)
UPD(20)mat|<1 / 1 000 000|-|Antenatal
Neonatal| +96187 96187|UPD(21)mat|<1 / 1 000 000|-|-| +96188 96188|UPD(22)mat|<1 / 1 000 000|-|-| +96190 96190|UPD(5)pat|-|-|-| +96191 96191|UPD(6)pat|-|-|-| +96192 96192|UPD(7)pat|-|-|-| +96193 96193|Mosaic paternal uniparental disomy of chromosome 11
UPD(11)pat|-|-|-| +96194 96194|Paternal UPD20
UPD(20)pat|-|-|-| +96195 96195|UPD(21)pat|-|-|-| +96201 96201|-|-|-|-| +96253 96253|Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome|1-9 / 100 000|Not applicable|Adult|219090 +96256 96256|Somatotropinoma|-|-|-|102200 +96265 96265|46,XY DSD due to complete LH receptor inactivation
46,XY DSD due to complete LH resistance
46,XY DSD due to complete luteinizing hormone receptor inactivation
46,XY DSD due to complete luteinizing hormone resistance
46,XY disorder of sex development due to complete LH receptor inactivation
46,XY disorder of sex development due to complete LH resistance
46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation
46,XY disorder of sex development due to complete luteinizing hormone resistance
Leydig cell hypoplasia due to complete LH receptor inactivation
Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation
Leydig cell hypoplasia due to complete luteinizing hormone resistance|-|-|-|238320 +96266 96266|46,XY DSD due to partial LH receptor inactivation
46,XY DSD due to partial LH resistance
46,XY DSD due to partial luteinizing hormone resistance
46,XY disorder of sex developement due to partial LH receptor inactivation
46,XY disorder of sex developement due to partial LH resistance
46,XY disorder of sex developement due to partial luteinizing hormone resistance
Leydig cell hypoplasia due to partial LH receptor inactivation
Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation
Leydig cell hypoplasia due to partial luteinizing hormone resistance|-|-|-|238320 +96269 96269|Congenital absence of vagina|-|-|-| +963 963|-|1-9 / 100 000|Not applicable|Adult|102200 300943 +96321 96321|-|-|-|-| +96325 96325|-|-|-|-| +96333 96333|-|-|-|-| +96334 96334|UPD(14)pat|-|-|-| +96344 96344|-|-|-|-| +96346 96346|-|-|-|-| +96369 96369|-|-|-|-| +965 965|-|<1 / 1 000 000|Autosomal dominant|Neonatal|102150 +966 966|HAFF
Hypertrichosis-acromegaloid facial features syndrome
Hypertrichosis-coarse face syndrome|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|Neonatal| +968 968|Acromesomelic dwarfism|<1 / 1 000 000|Autosomal recessive|Neonatal|201250 +969 969|-|<1 / 1 000 000|Autosomal dominant|Neonatal|102370 +97 97|Episodic ataxia type 2|Unknown|Autosomal dominant|Childhood|108500 +970 970|Autosomal recessive sensory radicular neuropathy
HSAN2
Neurogenic acroosteolysis|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|201300 243000 613115 614213 +971 971|-|<1 / 1 000 000|Autosomal recessive|Neonatal|102520 201310 +97120 97120|-|-|-|-| +972 972|-|-|-|Infancy
Childhood|160120 +97214 97214|-|1-9 / 1 000 000|Not applicable|Adolescent
Childhood
Adult| +97229 97229|Brown-Vialetto-van Laere syndrome
Sensorineural hearing loss-pontobulbar palsy syndrome|<1 / 1 000 000|Autosomal recessive|Childhood|211530 614707 +97230 97230|-|1-5 / 10 000|Not applicable|All ages| +97231 97231|Conjunctivitis lignosa|Unknown|Autosomal recessive|Childhood|217090 +97232 97232|-|<1 / 1 000 000|-|-|305550 +97234 97234|GSD due to phosphoglycerate mutase deficiency
GSD type 10
Glycogenosis due to phosphoglycerate mutase deficiency
Muscle phosphoglycerate mutase deficiency
Myopathy due to phosphoglycerate mutase deficiency|<1 / 1 000 000|-|-|261670 +97238 97238|-|-|Autosomal dominant
or Autosomal recessive|-|600332 606072 +97239 97239|-|<1 / 1 000 000|Not applicable
or X-linked dominant|Infancy
Childhood
Adult|300717 300718 +97240 97240|-|<1 / 1 000 000|Unknown|-| +97242 97242|CMD
MDC|1-9 / 100 000|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal| +97244 97244|Rigid spine congenital muscular dystrophy|-|-|Infancy
Neonatal|602771 +97245 97245|-|-|-|-| +97249 97249|CLAM
Cerebellar atrophy with progressive microcephaly
PCH with optic atrophy
PCH without dyskinesia
PCH3|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|608027 +97252 97252|-|-|-|-| +97253 97253|Pancreatic neuroendocrine tumor|1-5 / 10 000|Not applicable
or Autosomal dominant|Adult| +97261 97261|GRF tumor
Growth hormone releasing factor tumor|Unknown|Not applicable|Adult| +97275 97275|-|-|-|-| +97278 97278|Pancreatic polypeptidoma|Unknown|Not applicable|Adult| +97279 97279|-|Unknown|Not applicable|All ages| +97280 97280|Glucagonoma syndrome|<1 / 1 000 000|Not applicable|Adult| +97282 97282|Diarrheogenic islet cell tumor
Pancreatic cholera
VIP-secreting tumor
Verner-Morrison syndrome
WDHA syndrome
Watery diarrhea-hypokalemia-achlorhydria syndrome|<1 / 1 000 000|Not applicable|All ages| +97283 97283|-|<1 / 1 000 000|Unknown|Adult| +97285 97285|-|-|-|-| +97286 97286|Carney dyad
Carney-Stratakis dyad
GIST-paraganglioma dyad
Paraganglioma and gastric stromal sarcoma|<1 / 1 000 000|Autosomal dominant|Adolescent
Adult|606864 +97287 97287|Bronchial carcinoid tumor
Bronchial neuroendocrine tumor|-|-|-| +97289 97289|Carcinoid tumor of thymus
Thymic neuroendocrine tumor|-|-|-| +97290 97290|PTC-RCC|-|-|Elderly|605642 +97292 97292|-|1-5 / 10 000|-|-| +97293 97293|-|-|-|-| +97297 97297|BOS syndrome
Bohring syndrome
C-like syndrome
Oberklaid-Danks syndrome
Opitz trigonocephaly-like syndrome|<1 / 1 000 000|-|-|605039 +973 973|Adactyly of hand, unilateral
Digits 2-5 hypodactyly, unilateral
Digits 2-5 oligodactyly, unilateral|<1 / 1 000 000|Autosomal dominant
or Not applicable|Antenatal
Neonatal|102650 +97330 97330|TOS
Thoracic outlet compression syndrome|Unknown|-|-| +97332 97332|Aseptic necrosis of the lunate bone
Lunatomalacia
Osteochondritis of the lunate bone
Osteochondrosis of the lunate bone|-|-|-| +97335 97335|Aseptic necrosis of the tibial tubercle
Osteochondritis of the tibial tubercle
Osteochondrosis of the tibial tubercle|-|-|-| +97336 97336|Aseptic necrosis of the capital humerus
Osteochondrosis of the capital humerus|Unknown|-|-| +97337 97337|Aseptic necrosis of patella
Osteochondrosis of patella|Unknown|-|-| +97338 97338|Clear cell sarcoma of the tendons and aponeuroses|-|-|-| +97339 97339|Cranial dural arteriovenous fistula
Cranial dural arteriovenous malformations|Unknown|-|Antenatal
Neonatal
Infancy| +97340 97340|-|<1 / 1 000 000|-|-|601379 +97341 97341|-|<1 / 1 000 000|-|-| +97345 97345|Familial dementia, British type|-|Autosomal dominant|Adult|176500 +97346 97346|Familial dementia, Danish type|-|Autosomal dominant|-|117300 +97349 97349|-|-|-|-| +97352 97352|-|-|-|-| +97353 97353|Boxer's dementia
Chronic traumatic encephalopathy
Punch-drunk syndrome|-|-|-| +97355 97355|-|Unknown|-|-| +97360 97360|Acral dysostosis with facial and genital abnormalities
Fetal face syndrome
Mesomelic dwarfism-small genitalia syndrome
Robinow dwarfism
Robinow-Silverman-Smith syndrome|Unknown|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|180700 268310 616331 616894 +97361 97361|-|Unknown|Not applicable|All ages| +97362 97362|-|Unknown|Not applicable
or Autosomal dominant|All ages| +97363 97363|Unilateral MCDK
Unilateral multicystic renal dysplasia|Unknown|Autosomal dominant|Neonatal
Antenatal| +97364 97364|Bilateral MCDK
Bilateral multicystic renal dysplasia|-|-|-| +97366 97366|Multilocular cyst of the kidney
Multilocular renal cyst|-|-|-| +97367 97367|-|-|Not applicable|-| +97368 97368|-|-|Not applicable|-| +97369 97369|-|-|Autosomal recessive|-|267430 +974 974|AOS
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
Limb, scalp and skull defects|Unknown|Autosomal dominant
or Autosomal recessive|Neonatal|100300 614219 614814 615297 616028 616589 +97548 97548|-|-|-|-|208530 +97555 97555|-|-|Not applicable|-| +97556 97556|-|-|-|-| +97560 97560|-|-|-|-|614692 +97563 97563|Pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody|Unknown|Not applicable|Adult
Elderly| +97564 97564|Antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis
Pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody|Unknown|Not applicable|Childhood
Adolescent
Adult| +97566 97566|Congo red-negative amyloidosis-like glomerulopathy
Non-amyloid fibrillary glomerulonephritis|-|Not applicable|Adult| +97567 97567|Immunotactoid glomerulonephritis|-|Not applicable|Adult| +97593 97593|-|1-9 / 1 000 000|Autosomal dominant
or Not applicable|All ages| +97598 97598|Congenital renovascular hypoplasia|-|-|-| +976 976|2,8-dihydroxyadenine urolithiasis
APRT deficiency|1-9 / 100 000|Autosomal recessive|All ages|614723 +97678 97678|UPD(13)mat|<1 / 1 000 000|-|Adult| +97685 97685|Del(17)(q11)
Monosomy 17q11
NF1 microdeletion syndrome
Neurofibromatosis type 1 microdeletion syndrome|Unknown|-|-|613675 +977 977|-|<1 / 1 000 000|Unknown|Neonatal
Infancy|300270 +978 978|Acro-dermato-ungual-lacrimal-tooth syndrome
Pigment anomaly-ectrodactyly-hypodontia syndrome|<1 / 1 000 000|Autosomal dominant|Childhood|103285 +97927 97927|-|1-9 / 100 000|Autosomal dominant|Infancy
Neonatal|609893 614450 +97929 97929|-|-|-|-| +97935 97935|-|-|-|-| +97944 97944|-|-|-|-| +97945 97945|-|-|-|-| +97955 97955|-|-|-|-| +97957 97957|-|-|-|-| +97962 97962|-|-|-|-| +97965 97965|-|-|-|-| +97966 97966|-|-|-|-| +97978 97978|-|-|-|-| +97992 97992|-|-|-|-| +98 98|ARSACS|Unknown|Autosomal recessive|Infancy
Childhood
Adolescent
Adult|270550 +980 980|-|Unknown|Not applicable|All ages| +98004 98004|-|-|-|-| +98006 98006|Rare nervous system disease|-|-|-| +98010 98010|-|-|-|-| +98022 98022|-|-|-|-| +98023 98023|-|-|-|-| +98026 98026|-|-|-|-| +98027 98027|-|-|-|-| +98028 98028|-|-|-|-| +98032 98032|-|-|-|-| +98033 98033|-|-|-|-| +98036 98036|-|-|-|-| +98038 98038|-|-|-|-| +98039 98039|-|-|-|-| +98041 98041|-|-|-|-| +98043 98043|-|-|-|-| +98044 98044|-|-|-|-| +98045 98045|-|-|-|-| +98047 98047|-|-|-|-| +98048 98048|-|-|-|-| +98049 98049|-|-|-|-| +98050 98050|Rare allergy|-|-|-| +98052 98052|Rare respiratory allergy|-|-|-| +98053 98053|-|-|-|-| +98054 98054|-|-|-|-| +98056 98056|-|-|-|-| +98057 98057|Rare neoplasm|-|-|-| +98058 98058|Rare urinary tract cancer
Rare urinary tract neoplasm|-|-|-| +98059 98059|Rare digestive cancer
Rare digestive neoplasm|-|-|-| +98060 98060|Rare respiratory cancer
Rare respiratory neoplasm|-|-|-| +98061 98061|Rare ORL cancer
Rare ORL neoplasm
Rare ORL tumor|-|-|-| +98062 98062|Rare nervous system neoplasm|-|-|-| +98063 98063|Rare gynaecological cancer
Rare gynaecological neoplasm|-|-|-| +98065 98065|Neurosurgery|-|-|-| +98066 98066|-|-|-|-| +98067 98067|Orthopaedic surgery|-|-|-| +98068 98068|-|-|Autosomal dominant|-| +98069 98069|-|-|Autosomal dominant|-| +98070 98070|-|-|Autosomal dominant|-| +98071 98071|-|-|Autosomal dominant|-| +98073 98073|-|-|-|-| +98074 98074|-|-|-|-| +98087 98087|Syndrome with 46,XY DSD|-|-|-| +98095 98095|-|-|-|-| +98096 98096|-|-|-|-| +98097 98097|-|-|-|-| +98098 98098|-|-|-|-| +98099 98099|-|-|-|-| +981 981|-|<1 / 1 000 000|Not applicable|All ages| +98101 98101|-|-|-|-| +98102 98102|-|-|-|-| +98103 98103|-|-|-|-| +98104 98104|-|-|-|-| +98105 98105|-|-|-|-| +98106 98106|-|-|-|-| +98107 98107|-|-|-|-| +98108 98108|-|-|-|-| +98109 98109|-|-|-|-| +98110 98110|-|-|-|-| +98111 98111|-|-|-|-| +98112 98112|-|-|-|-| +98113 98113|-|-|-|-| +98114 98114|-|-|-|-| +98115 98115|-|-|-|-| +98116 98116|-|-|-|-| +98117 98117|-|-|-|-| +98118 98118|-|-|-|-| +98119 98119|-|-|-|-| +98120 98120|-|-|-|-| +98121 98121|-|-|-|-| +98122 98122|-|-|-|-| +98123 98123|-|-|-|-| +98124 98124|-|-|-|-| +98125 98125|-|-|-|-| +98127 98127|-|-|-|-| +98130 98130|Autosomal duplication|-|-|-| +98131 98131|-|-|-|-| +98132 98132|-|-|-|-| +98141 98141|-|-|-|-| +98142 98142|Partial autosomal deletion|-|-|-| +98152 98152|-|-|-|-| +98153 98153|-|-|-|-| +98154 98154|-|-|-|-| +98155 98155|Sex-chromosome anomaly|-|-|-| +98156 98156|Sex-chromosome number anomaly|-|-|-| +98157 98157|Sex-chromosome structural anomaly|-|-|-| +98158 98158|-|-|-|-| +98159 98159|-|-|-|-| +98196 98196|Dysmorphologic diseases with phakomatosis|-|-|-| +982 982|Congenital absence of the pulmonary valve
PVA|Unknown|Not applicable|Infancy
Neonatal| +98203 98203|Dystonia-plus syndrome|-|-|-| +98249 98249|-|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Infancy
Neonatal| +98252 98252|-|-|-|-| +98253 98253|-|-|-|-| +98255 98255|-|-|-|-| +98257 98257|-|-|-|-| +98258 98258|-|-|-|-| +98259 98259|-|-|-|-| +98260 98260|-|-|-|-| +98261 98261|PME
Progressive myoclonus epilepsy|-|-|Neonatal
Infancy
Childhood
Adolescent| +98267 98267|Monogenic obesity due to a leptin-melanocortin pathway anomaly|-|-|-| +98274 98274|MPD
MPN
Myeloproliferative disorder|-|-|All ages| +98275 98275|-|-|-|-| +98277 98277|AML with recurrent genetic anomaly|-|-|-| +98282 98282|-|-|-|-| +98287 98287|-|-|-|-| +98288 98288|-|-|-|-| +98289 98289|-|-|-|-| +98290 98290|-|-|-|-| +98291 98291|-|-|-|Childhood| +98292 98292|-|1-9 / 100 000|-|All ages|154800 +98293 98293|Hodgkin's disease
Hodgkin's lymphoma|-|Multigenic/multifactorial|Adult| +98296 98296|-|-|-|-| +98297 98297|-|-|-|-| +98298 98298|-|-|-|-| +98299 98299|-|-|-|-| +983 983|ETRS
Embryonic testicular regression syndrome
TRS
Vanishing testes syndrome
Vanishing testis syndrome|Unknown|Autosomal recessive|Childhood|273250 +98300 98300|-|-|-|-| +98301 98301|-|-|-|-| +98305 98305|-|-|-|-| +98306 98306|FPLD|1-9 / 100 000|Autosomal dominant
or Autosomal recessive|-| +98307 98307|-|-|-|-| +98313 98313|Male infertility due to testicular dysgenesis|-|-|-| +98343 98343|Male infertility due to impaired sperm transport|-|-|-| +98345 98345|-|-|-|-| +98349 98349|Autosomal dominant isolated diffuse palmoplantar hyperkeratosis|-|-|-| +98352 98352|Autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature|-|-|-| +98353 98353|Autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature|-|-|-| +98356 98356|Autosomal recessive isolated diffuse palmoplantar hyperkeratosis|-|-|-| +98357 98357|Autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature|-|-|-| +98360 98360|-|-|-|-| +98362 98362|-|-|-|-| +98363 98363|-|-|-|-| +98364 98364|-|-|-|-| +98365 98365|Hereditary stomatocytic disease|-|-|-| +98366 98366|Constitutional hemolytic anemia due to acanthocytic disorder|-|-|-| +98369 98369|-|-|-|-| +98370 98370|-|-|-|-| +98372 98372|-|-|-|-| +98374 98374|Hemolytic anemia due to an erythroenzymopathy|-|-|-| +98375 98375|AHA
AIHA|1-9 / 100 000|Multigenic/multifactorial|All ages| +98396 98396|-|-|-|-| +984 984|-|-|-|-| +98408 98408|-|-|-|-| +98415 98415|-|-|-|-| +98421 98421|-|-|-|-| +98427 98427|-|-|-|-| +98428 98428|Secondary erythrocytosis|Unknown|Autosomal dominant
or Autosomal recessive|All ages| +98429 98429|-|-|-|-| +98434 98434|Hereditary combined deficiency of factors II, VII, IX and X|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|277450 607473 +98435 98435|-|-|-|-| +98454 98454|SPD|-|-|-|185050 +98455 98455|-|-|-|-| +98456 98456|Delta granule disease|-|-|-| +98464 98464|-|-|-|-| +98468 98468|-|-|-|-| +98469 98469|-|-|-|-| +98470 98470|-|-|-|-| +98472 98472|-|-|-|-| +98473 98473|-|-|-|-| +98482 98482|IMM|-|-|-| +98486 98486|-|-|-|-| +98491 98491|-|-|-|-| +98494 98494|-|-|-|-| +98495 98495|-|-|-|-| +98496 98496|-|-|-|-| +98497 98497|-|1-5 / 10 000|-|-| +98503 98503|Anterior horn cell disease|-|-|-| +98505 98505|Genetic anterior horn cell disease|-|-|-| +98506 98506|Acquired anterior horn cell disease|-|-|-| +98514 98514|-|-|-|-| +98516 98516|-|-|-|-| +98518 98518|-|-|-|-| +98519 98519|-|-|-|-| +98520 98520|-|-|-|-| +98523 98523|PCH
Pontoneocerebellar atrophy
Pontoneocerebllar hypoplasia|Unknown|Autosomal recessive|Infancy
Neonatal| +98527 98527|-|-|-|-| +98528 98528|-|-|-|-| +98529 98529|-|-|-|-| +98530 98530|-|-|-|-| +98531 98531|-|-|-|-| +98532 98532|-|-|-|-| +98534 98534|-|-|-|-| +98535 98535|-|-|-|-| +98538 98538|-|-|-|-| +98539 98539|-|-|-|-| +98540 98540|-|-|-|-| +98542 98542|-|-|-|-| +98543 98543|-|-|-|-| +98544 98544|-|-|-|-| +98549 98549|-|-|-|-| +98553 98553|-|-|-|-| +98554 98554|-|-|-|-| +98555 98555|-|1-9 / 100 000|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Infancy
Neonatal| +98557 98557|-|-|-|-| +98558 98558|-|-|-|-| +98559 98559|-|-|-|-| +98560 98560|-|-|-|-| +98561 98561|-|-|-|-| +98562 98562|-|-|-|-| +98563 98563|-|-|-|-| +98564 98564|-|-|-|-| +98565 98565|-|-|-|-| +98566 98566|-|-|-|-| +98567 98567|-|-|-|-| +98568 98568|-|-|-|-| +98569 98569|-|-|-|-| +98570 98570|-|-|-|-| +98571 98571|-|-|-|-| +98572 98572|-|-|-|-| +98573 98573|-|-|-|-| +98574 98574|-|-|-|-| +98575 98575|-|-|-|-| +98576 98576|-|-|-|-| +98577 98577|-|-|-|-| +98578 98578|-|-|-|-| +98579 98579|-|-|-|-| +98580 98580|-|-|-|-| +98581 98581|-|-|-|-| +98582 98582|-|-|-|-| +98583 98583|-|-|-|-| +98584 98584|-|-|-|-| +98585 98585|-|-|-|-| +98586 98586|-|-|-|-| +98587 98587|-|-|-|-| +98588 98588|-|-|-|-| +98590 98590|-|-|-|-| +98591 98591|-|-|-|-| +98592 98592|-|-|-|-| +98593 98593|-|-|-|-| +98594 98594|-|-|-|-| +98595 98595|-|-|-|-| +98596 98596|-|-|-|-| +98597 98597|Eyelashes polytrichia
Eyelashes trichomegalia|-|-|-| +98598 98598|-|-|-|-| +98599 98599|-|-|-|-| +98600 98600|-|-|-|-| +98601 98601|-|-|-|-| +98602 98602|-|-|-|-| +98603 98603|-|-|-|-| +98604 98604|-|-|-|-| +98605 98605|-|-|-|-| +98606 98606|Urrets-Zavalia syndrome|-|-|-|165600 +98608 98608|-|-|-|-| +98609 98609|-|-|-|-| +98610 98610|-|-|-|-| +98611 98611|-|-|-|-| +98612 98612|-|-|-|-| +98613 98613|-|-|-|-| +98614 98614|-|-|-|-| +98615 98615|-|-|-|-| +98616 98616|-|-|-|-| +98617 98617|-|-|-|-| +98618 98618|-|-|-|-| +98619 98619|-|-|Autosomal dominant
or Autosomal recessive|-|608908 614292 615431 +98620 98620|-|-|-|-| +98621 98621|-|-|-|-| +98622 98622|-|-|-|-| +98623 98623|-|-|-|-| +98625 98625|Anterior corneal dystrophy|Unknown|Autosomal dominant
or X-linked recessive|All ages| +98626 98626|-|Unknown|Autosomal dominant
or Autosomal recessive|All ages| +98627 98627|-|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive|All ages| +98628 98628|-|-|-|-| +98631 98631|-|-|-|-| +98632 98632|-|-|-|-| +98633 98633|-|-|-|-| +98634 98634|-|-|-|-| +98635 98635|-|-|-|-| +98636 98636|-|-|-|-| +98637 98637|-|-|-|-| +98638 98638|-|-|-|-| +98639 98639|-|-|-|-| +98640 98640|-|-|-|-| +98641 98641|-|-|-|-| +98642 98642|-|-|-|-| +98643 98643|-|-|-|-| +98644 98644|-|-|-|-| +98645 98645|-|-|-|-| +98646 98646|-|-|-|-| +98647 98647|-|-|-|-| +98648 98648|-|-|-|-| +98649 98649|-|-|-|-| +98650 98650|-|-|-|-| +98652 98652|-|-|-|-| +98653 98653|-|-|-|-| +98655 98655|-|-|-|-| +98657 98657|-|-|-|-| +98658 98658|-|-|-|-| +98661 98661|-|-|-|-| +98662 98662|-|-|-|-| +98664 98664|-|-|-|-| +98665 98665|-|-|-|-| +98666 98666|-|-|-|-| +98667 98667|-|-|-|-| +98668 98668|-|-|-|-| +98669 98669|-|-|-|-| +98670 98670|-|-|-|-| +98671 98671|-|-|-|-| +98672 98672|DOA|1-9 / 100 000|Autosomal dominant|Childhood| +98673 98673|Autosomal dominant optic atrophy, Kjer type
Kjer optic atrophy
Optic atrophy type 1|-|Autosomal dominant|Childhood|165500 605293 610708 +98676 98676|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|258500 612989 +98681 98681|-|-|-|-| +98682 98682|-|-|-|-| +98683 98683|-|-|-|-| +98684 98684|-|-|-|-| +98685 98685|-|-|-|-| +98686 98686|Congenital CNIV palsy
Congenital fourth cranial nerve palsy|-|Not applicable|-| +98687 98687|-|-|-|-| +98688 98688|-|-|-|-| +98689 98689|-|-|-|-| +98690 98690|-|-|-|-| +98691 98691|-|-|-|-| +98692 98692|-|-|-|-| +98693 98693|-|-|-|-| +98694 98694|-|-|-|-| +98695 98695|-|-|-|-| +98696 98696|-|-|-|-| +98697 98697|-|-|-|-| +98698 98698|-|-|-|-| +98699 98699|-|-|-|-| +98700 98700|-|-|-|-| +98701 98701|-|-|-|-| +98702 98702|-|-|-|-| +98703 98703|-|-|-|-| +98704 98704|-|-|-|-| +98706 98706|-|-|-|-| +98708 98708|-|-|-|-| +98709 98709|-|-|-|-| +98710 98710|-|-|-|-| +98711 98711|-|-|-|-| +98712 98712|-|-|-|-| +98713 98713|-|-|-|-| +98714 98714|-|-|-|-| +98715 98715|-|1-5 / 10 000|-|-| +98716 98716|-|-|-|-| +98717 98717|-|-|-|-| +98718 98718|-|-|-|-| +98719 98719|-|-|-|-| +98720 98720|-|-|-|-| +98721 98721|-|-|-|-| +98722 98722|AVSD
Atrioventricular septal defect|-|-|-|600309 606215 606217 614430 614474 615779 +98723 98723|-|-|-|-| +98724 98724|Congenital aorta, aortic arch or pulmonary arteries anomaly|-|-|-| +98725 98725|-|-|-|-| +98727 98727|Atrial defect and interauricular communication|-|-|-| +98729 98729|-|-|-|-| +98731 98731|-|-|-|-| +98732 98732|-|-|-|-| +98733 98733|-|-|-|-| +98736 98736|-|-|-|-| +98737 98737|-|-|-|-| +98738 98738|-|-|-|-| +98739 98739|-|-|-|-| +98740 98740|-|-|-|-| +98741 98741|-|-|-|-| +98742 98742|-|-|-|-| +98743 98743|-|-|-|-| +98744 98744|-|-|-|-| +98745 98745|-|-|-|-| +98746 98746|-|-|-|-| +98747 98747|-|-|-|-| +98748 98748|-|-|-|-| +98749 98749|-|-|-|-| +98750 98750|-|-|-|-| +98751 98751|-|-|-|-| +98752 98752|-|-|-|-| +98753 98753|-|-|-|-| +98754 98754|UPD(15)mat|-|-|Adolescent
Adult| +98755 98755|SCA1|1-9 / 100 000|Autosomal dominant|All ages|164400 +98756 98756|SCA2|1-9 / 100 000|Autosomal dominant|All ages|183090 +98757 98757|Autosomal dominant striatonigral degeneration
Azorean disease of the nervous system
MJD
Machado disease
Machado-Joseph disease
Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia
SCA3|1-9 / 100 000|Autosomal dominant|Childhood
Adolescent
Adult|109150 +98758 98758|SCA6|1-9 / 1 000 000|Autosomal dominant|Adolescent
Adult
Elderly|183086 +98759 98759|HDL4
Huntington disease-like 4
SCA17|<1 / 1 000 000|Autosomal dominant|All ages|607136 +98760 98760|SCA8|Unknown|Autosomal dominant|Adult|608768 +98761 98761|SCA10|Unknown|Autosomal dominant|Adult|603516 +98762 98762|SCA12|<1 / 1 000 000|Autosomal dominant|All ages|604326 +98763 98763|SCA14|<1 / 1 000 000|Autosomal dominant|-|605361 +98764 98764|SCA27|<1 / 1 000 000|Autosomal dominant|Adolescent
Adult|609307 +98765 98765|SCA4|Unknown|Autosomal dominant|Adult|600223 +98766 98766|SCA5|<1 / 1 000 000|Autosomal dominant|Childhood
Adolescent
Adult
Elderly|600224 +98767 98767|SCA11|<1 / 1 000 000|Autosomal dominant|Childhood
Adolescent
Adult
Elderly|604432 +98768 98768|SCA13|<1 / 1 000 000|Autosomal dominant|Adult|605259 +98769 98769|SCA15/16|-|Autosomal dominant|-|606658 +98771 98771|SCA18|<1 / 1 000 000|Autosomal dominant|Adult|607458 +98772 98772|SCA19/22|<1 / 1 000 000|Autosomal dominant|Adult|607346 +98773 98773|SCA21|<1 / 1 000 000|Autosomal dominant|Adolescent|607454 +98784 98784|ADNFLE|Unknown|Autosomal dominant|Childhood
Adolescent|600513 603204 605375 610353 615005 +98791 98791|ATR syndrome linked to chromosome 16
ATR syndrome, deletion type
ATR-16 syndrome
Alpha thalassemia-intellectual disability syndrome, deletion type
Alpha thalassemia-mental retardation syndrome|<1 / 1 000 000|Not applicable
or Unknown|Infancy
Neonatal|141750 +98793 98793|-|-|-|-| +98794 98794|Angelman syndrome due to maternal monosomy 15q11q13|-|-|-| +98795 98795|UPD(15)pat|-|-|-| +98797 98797|-|-|-|-| +98798 98798|-|-|-|-| +988 988|-|-|-|-|188740 +98805 98805|DYT4
Hereditary whispering dysphonia|<1 / 1 000 000|Autosomal dominant|Adolescent
Adult|128101 +98806 98806|DYT6
Generalized cervical and upper-limb-onset dystonia
Idiopathic torsion dystonia of mixed type|<1 / 1 000 000|Autosomal dominant|Childhood
Adolescent
Adult|602629 +98807 98807|DYT13
Primary dystonia with mixed phenotype
Primary torsion dystonia with predominant craniocervical or upper limb onset|<1 / 1 000 000|Autosomal dominant|Childhood
Adolescent|607671 +98808 98808|Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation|1-9 / 1 000 000|Autosomal dominant
or Not applicable|Childhood|128230 +98809 98809|Familial PKD
Familial paroxysmal kinesigenic dyskinesia
Paroxysmal kinesigenic choreathetosis|1-9 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Childhood
Adolescent
Adult|128200 611031 +98810 98810|Paroxystic non-kinesigenic choreoathetosis|1-9 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Childhood
Adolescent
Adult|118800 611147 +98811 98811|DYT18
Dystonia 18
PED|<1 / 1 000 000|Autosomal dominant
or Not applicable|Infancy
Childhood
Adolescent
Adult|612126 +98813 98813|Anhidrotic ectodermal dysplasia with immunodeficiency
EDA-ID
HED-ID|Unknown|Autosomal dominant
or X-linked recessive|Infancy
Neonatal|300291 612132 +98815 98815|Early-onset benign childhood occipital epilepsy
Panayiotopoulos syndrome|-|-|-| +98816 98816|Late-onset benign childhood occipital epilepsy|-|-|-| +98818 98818|Acquired epileptic aphasia
LKS|-|Autosomal dominant|Childhood|245570 +98819 98819|-|-|-|-|608096 611631 +98820 98820|FFEVF
Familial partial epilepsy with variable foci|-|Autosomal dominant|-|604364 617116 617118 +98823 98823|CMML|-|-|Adult| +98824 98824|Subacute myeloid leukemia|-|-|Adult| +98825 98825|Unclassified mixed myelodysplastic/myeloproliferatic syndrome|-|-|-| +98826 98826|-|-|-|Adult| +98827 98827|-|-|-|-| +98829 98829|AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)|-|-|-| +98831 98831|AML with 11q23 abnormalities|-|-|Childhood| +98832 98832|AML M0|-|-|Adult| +98833 98833|AML M1
Acute myeloblastic leukemia M1|-|-|Adult| +98834 98834|AML M2
Acute myeloblastic leukemia M2|-|-|All ages| +98835 98835|-|-|-|-| +98836 98836|-|-|-|-| +98837 98837|-|-|-|-| +98838 98838|Large cell lymphoma of the mediastinum
Med-DLBCL
Mediastinal diffuse large-cell lymphoma with sclerosis
Primary mediastinal clear cell lymphoma of B-cell type|1-9 / 100 000|Multigenic/multifactorial
or Not applicable|Adult| +98839 98839|Angioendotheliomatosis proliferans systemisata
Angiotropic large cell lymphoma
Intravascular lymphomatosis
Malignant angioendotheliomatosis
Tappeiner-Pfleger disease|-|Not applicable|-| +98841 98841|ALCL
CD30 positive anaplastic large cell lymphoma
Ki-1 positive anaplastic large cell lymphoma
Primary systemic ALCL
sACL|1-9 / 100 000|-|All ages| +98842 98842|LyP|Unknown|Not yet documented|All ages| +98843 98843|-|-|-|Adult| +98844 98844|-|-|-|Adult| +98845 98845|-|-|-|Adult| +98846 98846|-|-|-|Adult| +98848 98848|-|1-9 / 100 000|Not applicable|All ages| +98849 98849|-|1-9 / 1 000 000|Not applicable|Adult| +98850 98850|-|1-9 / 1 000 000|Not applicable|Adult| +98851 98851|-|<1 / 1 000 000|Not applicable|All ages| +98852 98852|-|-|-|-|263000 +98853 98853|EDMD2|-|Autosomal dominant|-|181350 612998 612999 614302 +98855 98855|EDMD3|-|Autosomal recessive|-|616516 +98856 98856|AR-CMT2B1
Autosomal recessive Charcot-Marie-Tooth disease type 2B1
Autosomal recessive axonal CMT4C1|Unknown|Autosomal recessive|Childhood|605588 +98863 98863|EDMD1
Emerinopathy|1-9 / 100 000|X-linked recessive|-|300696 310300 +98868 98868|Hereditary ovalocytosis
Melanesian elliptocytosis
Melanesian ovalocytosis
SAO
Stomatocytic elliptocytosis|<1 / 1 000 000|Autosomal dominant|All ages|166900 +98869 98869|CDA I
CDA type 1
CDA type I
Congenital dyserythropoietic anemia type 1|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|224120 615631 +98870 98870|CDA III
CDA type 3
CDA type III
Congenital dyserythropoietic anemia type 3|<1 / 1 000 000|Autosomal dominant
or Autosomal recessive|All ages|105600 +98871 98871|Transient acquired pure red cell aplasia|-|-|-|227050 +98872 98872|-|-|-|-| +98873 98873|CDA II
CDA type 2
CDA type II
Congenital dyserythropoietic anemia type 2
Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
SEC23B-CDG|<1 / 1 000 000|Autosomal recessive|Childhood|224100 +98878 98878|Factor VIII deficiency|1-9 / 100 000|X-linked recessive|Infancy
Neonatal|306700 +98879 98879|Christmas disease
Factor IX deficiency|1-9 / 100 000|X-linked recessive|Infancy
Neonatal|306900 +98880 98880|-|-|Autosomal recessive|Infancy
Neonatal|202400 +98881 98881|-|Unknown|Autosomal dominant|All ages|616004 +98885 98885|-|-|Autosomal recessive|-|614201 +98886 98886|-|-|Autosomal dominant|-|614200 +98888 98888|Complex X-linked HSP
Complex X-linked SPG
Complicated X-linked HSP
Complicated X-linked SPG
X-linked complicated spastic paraplegia|-|-|-| +98889 98889|-|-|-|-|300388 615752 616531 +98890 98890|Non-Leber type optic atrophy with early-onset
OPA2
Optic atrophy type 2|<1 / 1 000 000|X-linked recessive|Childhood|311050 +98892 98892|-|Unknown|Autosomal recessive
or X-linked dominant|-|300049 608097 608098 612881 615544 +98893 98893|CMD1B
MDC1B|-|Autosomal recessive|Infancy
Neonatal|604801 +98895 98895|BMD
Becker dystrophinopathy|1-9 / 100 000|X-linked recessive|Childhood|159050 300376 +98896 98896|DMD
Severe dystrophinopathy, Duchenne type|1-9 / 100 000|X-linked recessive|Childhood|310200 +98897 98897|OPDM
Oculopharyngeal distal myopathy|-|Autosomal dominant
or Autosomal recessive|-|164310 +989 989|Aglossia-adactylia syndrome
Hanhart syndrome
Jussieu syndrome|<1 / 1 000 000|Autosomal dominant|Neonatal
Antenatal|103300 +98902 98902|-|<1 / 1 000 000|Autosomal recessive|Neonatal|605355 +98904 98904|Actin myopathy|-|-|-|161800 +98905 98905|-|-|-|-|255320 +98907 98907|NLSDI
Neutral lipid storage disease with ichthyosis|<1 / 1 000 000|Autosomal recessive|-|275630 +98908 98908|NLSDM
Neutral lipid storage disease with myopathy without ichthyosis
Triglyceride deposit cardiomyovasculopathy|<1 / 1 000 000|Autosomal recessive|Adult|610717 +98909 98909|Desmin-related myofibrillar myopathy|-|-|-|601419 +98910 98910|CRYAB-related myofobrillar myopathy|-|-|-| +98911 98911|-|-|-|-|609200 +98912 98912|ZASP-related myofibrillar myopathy|-|-|-|609452 +98913 98913|-|-|-|-|254300 601462 605809 608930 608931 614198 615120 616304 616313 616314 616321 616322 616323 616324 616325 616326 616720 +98914 98914|-|-|Autosomal dominant
or Autosomal recessive|-|254210 615120 616040 616330 616720 617143 +98915 98915|-|-|-|-|603034 +98916 98916|AIDP
Acute idiopathic demyelinating polyneuropathy
Acute inflammatory polyneuropathy
GBS, acute inflammatory demyelinating polyradiculoneuropathic form
Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form|1-9 / 100 000|Multigenic/multifactorial
or Not applicable|All ages|139393 +98917 98917|AMSAN
Acute motor-sensory axonal GBS
Acute motor-sensory axonal Guillain-Barré syndrome|-|Multigenic/multifactorial
or Not applicable|All ages| +98918 98918|AMAN
Acute pure motor GBS
Acute pure motor Guillain-Barré syndrome|-|Multigenic/multifactorial
or Not applicable|All ages| +98919 98919|Cranial variant of GBS
Cranial variant of Guillain-Barré syndrome
Fisher syndrome|1-9 / 1 000 000|Multigenic/multifactorial
or Not applicable|All ages| +98920 98920|Autosomal recessive distal spinal muscular atrophy type 1
Autosomal recessive spinal muscular atrophy with respiratory distress
Diaphragmatic spinal muscular atrophy
Distal hereditary motor neuropathy type 6
Distal-HMN type 6
SIANRF
SMARD1
Severe infantile axonal neuropathy with respiratory failure type 1
dHMN6
dSMA1|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal
Childhood|604320 +98922 98922|-|-|-|-| +98933 98933|MSA, parkinsonian type
MSA-p|1-9 / 100 000|Not applicable|Adult| +98934 98934|HDL2|<1 / 1 000 000|Autosomal dominant|Adult|606438 +98938 98938|MAC
Microphthalmia with colobomatous cyst
Microphthalmia-anophthalmia-coloboma syndrome|-|Autosomal dominant
or Autosomal recessive|-|251505 300345 601186 605738 610092 611638 613703 614497 615145 616428 +98941 98941|-|-|Autosomal dominant|-| +98942 98942|-|-|-|-|120200 +98943 98943|-|-|-|-| +98944 98944|-|-|-|-|120200 +98945 98945|-|-|-|-| +98946 98946|-|-|-|-| +98947 98947|-|-|-|-| +98948 98948|-|<1 / 1 000 000|-|Antenatal
Neonatal| +98949 98949|-|<1 / 1 000 000|-|Antenatal
Neonatal| +98950 98950|-|<1 / 1 000 000|-|Antenatal
Neonatal| +98951 98951|-|-|-|-| +98954 98954|Juvenile hereditary epithelial dystrophy of Meesmann
MECD|<1 / 1 000 000|Autosomal dominant|Childhood|122100 +98955 98955|Band-shaped and whorled microcystic dystrophy of the corneal epithelium
LECD|<1 / 1 000 000|X-linked recessive|Childhood|300778 +98956 98956|-|-|Autosomal dominant|-|121820 +98957 98957|GDCD
Primary familial amyloidosis of the cornea
Subepithelial amyloidosis of the cornea|1-9 / 1 000 000|Autosomal recessive|Childhood|204870 +98958 98958|-|-|-|-| +98959 98959|SMCD|<1 / 1 000 000|Autosomal dominant|Childhood|612867 +98960 98960|Anterior limiting membrane dystrophy type II
Corneal dystrophy of Bowman layer type II
Curly fiber corneal dystrophy
Honeycomb corneal dystrophy
TBCD
Waardenburg-Jonker corneal dystrophy|Unknown|Autosomal dominant|Adolescent
Childhood
Adult|602082 +98961 98961|Anterior limiting membrane dystrophy type I
Atypical granular corneal dystrophy
Corneal dystrophy of Bowman layer type I
Geographic corneal dystrophy
Granular corneal dystrophy type 3
Granular corneal dystrophy type III
RBCD
Superficial granular corneal dystrophy|<1 / 1 000 000|Autosomal dominant|Childhood|608470 +98962 98962|Classic GCD
Classic granular corneal dystrophy
Corneal dystrophy Groenouw type I
GCD1
GCDI
Granular corneal dystrophy type 1|Unknown|Autosomal dominant|Childhood|121900 +98963 98963|Avellino corneal dystrophy
GCD2
GCDII
Granular corneal dystrophy type 2
Granular-lattice corneal dystrophy|Unknown|Autosomal dominant|Childhood|607541 +98964 98964|Biber-Haab-Dimmer dystrophy
Classic lattice corneal dystrophy
LCD1
LCDI
Lattice corneal dystrophy type 1|Unknown|Autosomal dominant|All ages|122200 608471 +98967 98967|Crystalline stromal dystrophy
Hereditary crystalline stromal dystrophy of Schnyder
SCCD
SCD
Schnyder crystalline corneal dystrophy
Schnyder crystalline dystrophy sine crystals|<1 / 1 000 000|Autosomal dominant|All ages|121800 +98969 98969|Corneal dystrophy Groenouw type II
Fehr corneal dystrophy
MCD|1-9 / 100 000|Autosomal recessive|All ages|217800 +98970 98970|FCD
François-Neetens speckled corneal dystrophy|<1 / 1 000 000|Autosomal dominant|All ages|121850 +98971 98971|PACD
Posterior amorphous stromal dystrophy|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|612868 +98972 98972|CCDF
Central cloudy corneal dystrophy of Francois|<1 / 1 000 000|Autosomal dominant|Childhood|217600 +98973 98973|PPCD
Posterior polymorphous dystrophy
Schlichting dystrophy|Unknown|Autosomal dominant|Childhood|122000 609140 609141 +98974 98974|Endoepithelial corneal dystrophy
FECD
Late hereditary endothelial dystrophy|Unknown|Autosomal dominant
or Multigenic/multifactorial
or Not applicable|Adult|136800 610158 613267 613268 613269 613270 613271 615523 +98975 98975|Autosomal dominant CHED
Autosomal dominant congenital hereditary endothelial dystrophy
CHED1
CHEDI
Congenital hereditary endothelial dystrophy type 1|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|121700 +98976 98976|Buphthalmia
Buphthalmos
Buphthalmus
Primary congenital glaucoma|1-9 / 100 000|Autosomal recessive
or Not applicable
or Autosomal dominant|Infancy
Neonatal|231300 600975 613085 613086 +98977 98977|-|-|Autosomal dominant|All ages|137750 231300 608695 608696 610535 611274 +98978 98978|-|-|Autosomal dominant|-|601631 602482 +98979 98979|-|-|-|-| +98980 98980|-|-|-|-| +98981 98981|-|-|-|-| +98984 98984|Cataract, Coppock-like
Dusty cataract|-|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|116300 +98985 98985|Early-onset cataract with Y-shaped suture opacities|-|Autosomal dominant|Neonatal
Infancy|605728 +98988 98988|Early-onset anterior subcapsular cataract|-|Autosomal dominant|Infancy
Neonatal|601202 +98989 98989|Blue-dot cataract|-|Autosomal dominant|Childhood|115660 614422 +98990 98990|-|-|Autosomal dominant|Infancy
Neonatal|115800 +98991 98991|-|-|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Infancy
Neonatal|116400 607304 609376 610019 +98992 98992|-|-|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Infancy
Neonatal|115660 115800 116300 116400 601202 605728 607304 609376 610019 613763 614422 +98993 98993|-|-|Autosomal dominant|Infancy
Neonatal|613763 +98994 98994|-|-|Autosomal dominant
or Autosomal recessive|Infancy
Neonatal|616509 +98995 98995|-|-|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Infancy
Neonatal|116400 605728 607304 609376 610019 613763 +99 99|ADCA
Autosomal dominant spinocerebellar ataxia|1-9 / 100 000|Autosomal dominant|All ages| +990 990|-|<1 / 1 000 000|Not applicable
or Autosomal recessive
or Autosomal dominant|Neonatal
Antenatal|202650 +99000 99000|AOFMD
AVMD
Adult-onset foveomacular dystrophy
Adult-onset foveomacular dystrophy with choroidal neovascularization
Adult-onset vitelliform macular dystrophy
Gass disease
Pseudo-Best disease
Pseudo-vitelliform macular dystrophy|Unknown|Autosomal dominant
or Not applicable|Adult|153840 608161 616151 616152 +99001 99001|Butterfly-shaped pattern dystrophy
Butterfly-shaped pigmentary macular dystrophy|-|Autosomal dominant|Adult|169150 608970 610125 +99002 99002|-|-|Unknown|Adult|179840 267800 +99003 99003|Multifocal pattern dystrophy simulating Stargardt disease|-|Autosomal dominant|Adult| +99004 99004|-|-|-|-| +99012 99012|-|-|-|-|258500 +99013 99013|SPG7|1-9 / 100 000|Autosomal recessive
or Autosomal dominant|All ages|607259 +99014 99014|CMT5X
CMTX5|-|X-linked recessive|-|311070 +99015 99015|SPG2
Spastic gait type 2
Spastic paraparesis type 2
X-linked spastic paraplegia type 2|<1 / 1 000 000|X-linked recessive|Childhood|312920 +99022 99022|-|Unknown|-|-|607616 +99027 99027|ADLD
Adult-onset autosomal dominant demyelinating leukodystrophy|<1 / 1 000 000|Autosomal dominant|Adult|169500 +99042 99042|Congenitally uncorrected transposition of the great vessels with coarctation
TGA with coarctation|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +99043 99043|DORV with subaortic or doubly committed VSD with pulmonary stenosis
DORV, Fallot type
Double outlet right ventricle, Fallot type|-|Multigenic/multifactorial|-| +99045 99045|DORV with subpulmonary VSD
DORV-TGA
Double outlet right ventricle with transposition of the great arteries
Taussig-Bing syndrome|-|Multigenic/multifactorial|-| +99046 99046|DORV with non-committed subpulmonary VSD|-|Multigenic/multifactorial|-| +99048 99048|APV/PDA, non-Fallot type
Absence of pulmonary valve-ventricular septal defect-persistent ductus arteriosus syndrome
PVA/PDA, non-Fallot type|-|-|-| +99049 99049|-|-|-|-| +99050 99050|Abnormal origin of right or left pulmonary artery from the aorta
Hemitruncus arteriosus|Unknown|-|-| +99051 99051|-|-|-|-|271950 +99052 99052|-|-|-|-| +99053 99053|-|-|-|-| +99054 99054|-|-|-|-| +99055 99055|-|-|-|-| +99056 99056|-|-|-|-| +99057 99057|-|-|-|-| +99058 99058|-|-|-|-| +99059 99059|-|-|-|-| +99060 99060|-|-|-|-| +99061 99061|-|-|-|-| +99062 99062|-|-|-|-| +99063 99063|-|-|-|-| +99064 99064|-|-|-|-| +99066 99066|CAVC type A
CAVC-left heart obstruction syndrome
Complete atrioventricular canal type A|-|-|-| +99067 99067|CAVC type B
CAVC-ventricle hypoplasia syndrome
Complete atrioventricular canal type B|-|-|-| +99068 99068|CAVC type C
CAVC-Fallot tetralogy syndrome
Complete atrioventricular canal type C|-|-|-| +99069 99069|-|<1 / 1 000 000|-|-| +99070 99070|-|-|-|-| +99071 99071|-|-|-|-| +99072 99072|-|-|-|-| +99075 99075|-|-|-|-| +99076 99076|-|-|-|-| +99077 99077|-|-|Not applicable|-| +99078 99078|-|-|-|-| +99079 99079|Aortic arch syndrome|-|-|-| +99081 99081|-|-|-|-| +99082 99082|-|-|-|-| +99083 99083|-|-|-|-| +99084 99084|-|-|-|-| +99085 99085|-|-|-|-| +99086 99086|-|-|-|-| +99087 99087|-|-|-|-| +99088 99088|-|-|-|-| +99089 99089|-|-|-|-| +99090 99090|-|-|-|-| +99092 99092|-|-|-|-|105805 +99094 99094|VSD with aortic insufficiency
Ventricular septal defect with aortic insufficiency|Unknown|-|Infancy
Neonatal| +99095 99095|Left ventricular-to-right atrial communication|Unknown|-|Infancy
Neonatal| +99096 99096|-|-|-|-| +99097 99097|-|-|-|-| +99098 99098|Cor triatriatum dextrum
Divided right atrium|-|-|-| +99099 99099|Cor triatriatum sinistrum
Divided left atrium|-|-|-| +991 991|Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome|<1 / 1 000 000|Not applicable|Neonatal|202660 +99100 99100|Juxtaposition of the atrial auricles|-|-|-| +99101 99101|Dilatation of the right atrial appendage
Dilatation of the right atrial auricle
Ectasia of the right atrial auricle|-|-|-| +99102 99102|Dilatation of the left appendage
Dilatation of the left auricle
Ectasia of the left auricle|-|-|-| +99103 99103|ASD, ostium secundum type|-|-|-| +99104 99104|ASD, coronary sinus type
Unroofed coronary sinus|-|-|-| +99105 99105|ASD, sinus venosus type|-|-|-| +99106 99106|ASD, ostium primum type|-|-|-| +99107 99107|-|-|-|-| +99108 99108|-|-|-|-| +99109 99109|Persistent left SVC connecting to the left-sided atrium
Persistent left superior caval vein connecting to the left-sided atrium|-|-|-| +99110 99110|Right SVC connecting to left-sided atrium
Right superior caval vein connecting to left-sided atrium|-|-|-| +99111 99111|Left SVC persisting to left-sided atrium
Left superior caval vein persisting to left-sided atrium|-|-|-| +99112 99112|Absence of brachiocephalic vein|-|-|-| +99113 99113|Subaortic course of brachiocephalic vein|-|-|-| +99114 99114|Absence of the SVC
Absence of the superior caval vein
Absence of the superior vena cava
Agenesis of the SVC
Agenesis of the superior caval vein|-|-|-| +99117 99117|-|-|-|-| +99118 99118|-|-|-|-| +99119 99119|Right IVC connecting to left-sided atrium
Right inferior caval vein connecting to left-sided atrium|-|-|-| +99120 99120|-|-|-|-| +99121 99121|Azygos continuation of the IVC
Azygos continuation of the inferior caval vein|-|-|-| +99122 99122|Congenital stenosis of the IVC
Congenital stenosis of the inferior caval vein|-|-|-| +99123 99123|IVC interruption
Inferior caval vein interruption|-|-|-| +99124 99124|-|-|-|Infancy
Childhood
Adolescent
Adult| +99125 99125|-|-|-|Neonatal|106700 +99129 99129|-|-|Not applicable|-| +99130 99130|-|-|Not applicable|-| +99131 99131|-|-|Not applicable|-| +99138 99138|-|-|Autosomal dominant|-| +99139 99139|-|-|-|-| +99141 99141|-|-|Autosomal recessive|-|613611 +99147 99147|Acquired von Willebrand disease|Unknown|Not applicable|Adult| +99169 99169|-|-|-|-| +99170 99170|-|-|-|-| +99171 99171|-|-|-|-| +99172 99172|-|-|Unknown|Neonatal| +99176 99176|-|-|-|-| +99177 99177|-|-|-|-|126300 +99179 99179|-|-|-|-|228990 +99226 99226|-|-|-|-| +99228 99228|-|-|-|-| +99324 99324|UPD(13)pat|-|-|-| +99361 99361|Familial MTC|-|Autosomal dominant|-|155240 +994 994|Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1|<1 / 1 000 000|Autosomal recessive|Antenatal
Neonatal|208150 300073 +99408 99408|-|-|-|-| +99413 99413|-|-|-|-| +99429 99429|CAIS
Complete androgen resistance syndrome|1-9 / 1 000 000|X-linked recessive|All ages|300068 300274 +99642 99642|-|Unknown|-|Childhood
Adolescent
Adult|613343 +99645 99645|-|-|-|-| +99646 99646|-|Unknown|Not applicable|Neonatal
Infancy
Childhood|614875 +99647 99647|Generalized enchondromatosis with platyspondyly|<1 / 1 000 000|No data available|Neonatal
Infancy| +99654 99654|FCPD
Fibrocalculous pancreatic diabetes
Tropical pancreatic diabetes|-|-|-| +99657 99657|DYT2|Unknown|Autosomal recessive|Childhood|224500 +99666 99666|-|-|-|-| +99672 99672|-|-|-|-|602401 +99688 99688|-|-|-|-| +99701 99701|-|-|-|-| +99706 99706|-|-|Autosomal recessive|-| +99718 99718|LHON plus disease|<1 / 1 000 000|Mitochondrial inheritance|Adolescent
Infancy
Childhood
Adult|165200 500001 +99725 99725|Hypophyseal gigantism
Infantile and juvenile forms of acromegaly|-|-|-|102200 +99731 99731|ISOD
Sulfocysteinuria|-|-|-|272300 +99732 99732|Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase
MOCOD|-|-|-|252150 252160 615501 +99734 99734|Exercise-induced delayed-onset myotonia
Fluctuating myotonia|Unknown|Autosomal dominant|Childhood|608390 +99735 99735|-|Unknown|Autosomal dominant|Childhood|608390 +99736 99736|ACZ-responsive congenital myotonia
ACZ-responsive myotonia
Acetazolamide-responsive congenital myotonia
Myotonia-painful contractions syndrome
Painful congenital myotonia
Painful myotonia|1-9 / 1 000 000|Autosomal dominant|Childhood|608390 +99739 99739|Rare familial disorder with hypertrophic obstructive cardiomyopathy
Rare familial disorder with hypertrophic subaortic stenosis|-|Autosomal dominant|-| +99741 99741|Koussef-Nichols syndrome|-|Autosomal dominant|-|145600 +99742 99742|-|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|607196 +99745 99745|Typhoid fever
Typhoidal salmonellosis|Unknown|Not applicable|All ages| +99748 99748|-|Unknown|Not applicable|All ages| +99749 99749|Infantile agranulocytosis
Severe congenital neutropenia type 3|<1 / 1 000 000|Autosomal recessive|-|610738 +99750 99750|Atypical PSP syndrome|1-9 / 100 000|-|-|260540 +99756 99756|-|-|-|-|268220 +99757 99757|-|-|-|-|268210 +99763 99763|18-hydroxylase deficiency
18-oxidase deficiency
Aldosterone synthase deficiency
CMO I
CMO II
Corticosterone methyloxidase deficiency type I
FHHA1|-|-|-|203400 610600 +99764 99764|Aldosterone synthase deficiency unrelated to CYP11B2
Aldosterone synthase deficiency unrelated to the aldosterone synthase gene
FHHA2|<1 / 1 000 000|-|Infancy|606984 +99771 99771|Bifidity of the uvula
Uvular cleft|Unknown|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal| +99772 99772|Cleft soft palate
Cleft velum palatinum|1-5 / 10 000|Multigenic/multifactorial
or Not applicable|Infancy
Neonatal|119570 +99776 99776|-|-|-|Neonatal
Infancy| +99789 99789|DD-I
DTDP1
Radicular dentin dysplasia|1-9 / 100 000|Autosomal dominant
or Autosomal recessive|Childhood| +99791 99791|DD-II
DTDP2|<1 / 1 000 000|Autosomal dominant|-| +99792 99792|-|<1 / 1 000 000|-|Infancy|125440 +99796 99796|Subcortical laminar heterotopia|-|Autosomal recessive
or X-linked recessive
or Unknown|-|300067 600348 607432 +99797 99797|-|-|-|-|206780 +99798 99798|Selective tooth agenesis|Unknown|Autosomal dominant
or Autosomal recessive
or X-linked recessive|Childhood|106600 150400 313500 604625 610926 616724 617073 +998 998|-|<1 / 1 000 000|X-linked recessive|Neonatal|300700 +99802 99802|Unilateral megalencephaly|Unknown|Not applicable|Infancy| +99803 99803|Congenital central alveolar hypoventilation-Hirschsprung disease syndrome
Ondine-Hirschsprung disease
Ondine-Hirschsprung syndrome|<1 / 1 000 000|Autosomal dominant
or Multigenic/multifactorial|Infancy
Neonatal|209880 +99806 99806|OOD|<1 / 1 000 000|-|Infancy|166750 +99807 99807|-|<1 / 1 000 000|Autosomal recessive|Neonatal
Infancy|260565 +99810 99810|-|<1 / 1 000 000|Autosomal dominant|Infancy
Neonatal|175780 614483 +99811 99811|-|-|-|-| +99812 99812|DNA ligase IV deficiency
Ligase 4 syndrome|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|606593 +99817 99817|-|Unknown|Autosomal dominant
or Autosomal recessive|Childhood| +99818 99818|-|-|Autosomal dominant|All ages|175100 +99819 99819|-|-|Autosomal dominant|-|603373 +99824 99824|LF
Lassa hemorrhagic fever|Unknown|-|All ages| +99825 99825|Nipah encephalitis
Nipah fever|<1 / 1 000 000|-|All ages| +99826 99826|Green monkey disease
MHF
Marburg virus disease|<1 / 1 000 000|-|All ages| +99827 99827|CCHF
Congo fever
Congo hemorrhagic fever
Crimean hemorrhagic fever|Unknown|-|All ages| +99828 99828|DF
Dengue virus infection|Unknown|-|All ages|614371 +99829 99829|Bronze John
YF
Yellow Jack|Unknown|-|All ages| +99832 99832|Central hypothyroidism due to TRH receptor deficiency
TRH resistance syndrome|<1 / 1 000 000|Autosomal recessive|Infancy| +99842 99842|LAD-I|1-9 / 1 000 000|Autosomal recessive|Childhood|116920 +99843 99843|CDG syndrome type IIc
CDG-IIc
CDG2C
LAD-II
Rambam-Hasharon syndrome
SLC35C1-CDG|<1 / 1 000 000|Autosomal recessive|Childhood|266265 +99844 99844|LAD-1 variant
LAD-III
Leukocyte adhesion deficiency-1 variant|<1 / 1 000 000|Autosomal recessive|Childhood|612840 +99845 99845|-|Unknown|Autosomal dominant
or Autosomal recessive
or Not applicable|Childhood|268200 550500 +99846 99846|-|<1 / 1 000 000|-|No data available|160010 +99849 99849|GSD due to muscle beta-enolase deficiency
GSDXIII
Glycogenosis due to muscle beta-enolase deficiency
Glycogenosis type 13
Muscle enolase deficiency
Muscular enolase deficiency|<1 / 1 000 000|Autosomal recessive|Adult|612932 +99852 99852|Progressive encephalopathy with severe infantile anorexia
Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome|<1 / 1 000 000|Autosomal recessive|Infancy| +99853 99853|-|<1 / 1 000 000|Autosomal recessive|Childhood
Adolescent
Adult|603896 615889 +99854 99854|-|-|-|-|603896 +99856 99856|Congenital syringomyelia|-|-|-| +99857 99857|-|-|-|-| +99858 99858|-|-|-|-| +99860 99860|B-ALL
Precursor B-cell acute lymphoblastic leukemia/lymphoma
Precursor B-cell acute lymphocytic leukemia
Precursor B-cell acute lymphocytic leukemia/lymphoma|-|-|-|615545 +99861 99861|Precursor T-cell acute lymphoblastic leukemia/lymphoma
Precursor T-cell acute lymphocytic leukemia
Precursor T-cell acute lymphocytic leukemia/lymphoma
T-ALL|-|-|-| +99865 99865|-|Unknown|Unknown|Adolescent
Adult|273300 +99867 99867|Primary thymic epithelial neoplasm
Primary thymic epithelial tumor|Unknown|Not applicable|Adult|274230 +99868 99868|Malignant thymoma|Unknown|Not applicable|Adult| +99869 99869|-|Unknown|Not applicable|Adult| +99870 99870|Acute and disseminated Langerhans cell histiocytosis|1-9 / 1 000 000|-|Infancy
Neonatal|246400 +99871 99871|Chronic and localized Langerhans cell histiocytosis|-|-|-| +99872 99872|Congenital Langerhans cell histiocytosis|<1 / 1 000 000|-|Infancy
Neonatal| +99873 99873|Chronic multifocal Langerhans cell histiocytosis
Multifocal eosinophilic granuloma|-|-|-| +99874 99874|Pulmonary histiocytosis X|Unknown|Not applicable|Adult| +99875 99875|EDS VIIA|-|Autosomal dominant|Infancy
Neonatal|130060 +99876 99876|EDS VIIB|-|Autosomal dominant|Infancy
Neonatal|130060 +99877 99877|-|-|-|-|145000 +99878 99878|Familial parathyroids hyperplasia
Hereditary parathyroids hyperplasia|-|-|-|600166 +99879 99879|FIHPT|Unknown|Autosomal dominant|Adult|145000 610071 +99880 99880|HPT-JT|Unknown|-|Adolescent
Adult|145001 +99885 99885|Monogenic diabetes of infancy
PNDM|1-9 / 1 000 000|Autosomal dominant
or Autosomal recessive|Antenatal
Neonatal
Infancy|606176 +99886 99886|TNDM|Unknown|Autosomal dominant
or Autosomal recessive
or Not applicable|Antenatal
Neonatal|601410 610374 610582 +99887 99887|DS-AMKL|-|Not applicable|-| +99889 99889|Adrenocorticotropic hormone secretion syndrome
Ectopic ACTH secreting tumor
Ectopic Cushing syndrome
Occult ectopic ACTH secretion
Paraneoplastic Cushing syndrome|Unknown|-|-| +99892 99892|ACTH-dependent CS
Adrenocorticotropic hormone-dependent Cushing syndrome
Corticotropin-dependent Cushing syndrome|Unknown|-|-| +99893 99893|Adrenal Cushing syndrome
Adrenocorticotropic hormone-independent Cushing syndrome
Corticotropin-independent Cushing syndrome|-|-|-| +99898 99898|MSMD due to complete IFNgammaR1 deficiency
MSMD due to complete interferon gamma receptor 1 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency|Unknown|Autosomal recessive|Infancy
Neonatal|209950 +999 999|O'Doherty syndrome
Pigmentary disorder with hearing loss|<1 / 1 000 000|Autosomal recessive|Neonatal|227010 +99900 99900|LCAD|-|-|-| +99901 99901|ACAD9 deficiency|Unknown|Autosomal recessive|Infancy
Neonatal|611126 +99903 99903|Sodoku|Unknown|-|-| +99905 99905|-|Unknown|-|-| +99906 99906|-|-|-|-| +99907 99907|-|-|-|-| +99908 99908|Bird fancier lung|-|-|-|145300 +99909 99909|-|-|-|-| +99912 99912|Dysgerminomatous germ cell cancer of ovary
Malignant ovarian dysgerminoma|Unknown|Unknown|Adolescent| +99913 99913|-|-|-|-| +99914 99914|-|-|-|-| +99915 99915|Granulosa cell cancer
Granulosa cell malignant tumor|-|-|Adult
Elderly| +99916 99916|Androblastoma
Arrhenoblastoma
Ovarian Sertoli-Leydig cell cancer
Ovarian malignant Sertoli-Leydig cell tumor
Virilizing ovarian tumor|-|-|Adult
Elderly| +99917 99917|Theca (steroid-producing) cell cancer, not further specified|-|-|Adult| +99918 99918|Streptococcal TSS|-|Not applicable|-| +99919 99919|Staphylococcal TSS|Unknown|Not applicable|-| +99920 99920|-|-|-|-| +99921 99921|-|-|-|-| +99922 99922|-|-|-|-| +99925 99925|-|Unknown|Not applicable|Adult| +99926 99926|-|Unknown|Not applicable|Adult| +99927 99927|Molar pregnancy|Unknown|Autosomal recessive
or Not applicable|Adult|231090 614293 +99928 99928|PSST|<1 / 1 000 000|Not applicable|Adult| +99930 99930|-|-|-|-| +99931 99931|-|Unknown|-|Childhood|178550 235500 +99932 99932|Cow's milk hypersensitivity|-|-|Infancy| +99933 99933|-|-|-|-| +99934 99934|-|-|-|-| +99935 99935|-|-|-|-| +99936 99936|CMT2B|-|Autosomal dominant|Adolescent
Adult|600882 +99937 99937|CMT2C|-|Autosomal dominant|Infancy
Childhood
Adolescent
Adult|606071 +99938 99938|CMT2D|<1 / 1 000 000|Autosomal dominant|Adolescent
Adult|601472 +99939 99939|CMT2E|-|Autosomal dominant|Childhood
Adolescent
Adult|607684 +99940 99940|CMT2F|<1 / 1 000 000|Autosomal dominant|Adolescent
Adult
Elderly|606595 +99941 99941|CMT2G|<1 / 1 000 000|Autosomal dominant|Childhood
Adolescent
Adult
Elderly|608591 +99942 99942|CMT2I|-|Autosomal dominant|Adult|607677 +99943 99943|CMT2J|-|Autosomal dominant|Adult|607736 +99944 99944|CMT2K|<1 / 1 000 000|Autosomal dominant|Childhood
Adolescent
Adult|607831 +99945 99945|CMT2L|<1 / 1 000 000|Autosomal dominant|Adolescent
Adult|608673 +99946 99946|CMT2A1|<1 / 1 000 000|Autosomal dominant|Childhood|118210 +99947 99947|CMT2A2|Unknown|Autosomal dominant|Childhood|609260 +99948 99948|CMT4A|Unknown|Autosomal recessive|Infancy
Neonatal|214400 +99949 99949|CMT4C|Unknown|Autosomal recessive|Childhood|601596 +99950 99950|CMT4D
HMSN, Lom type
HMSN-Lom
Hereditary motor and sensory neuropathy, Lom type|Unknown|Autosomal recessive|Childhood
Adolescent|601455 +99951 99951|Autosomal recessive congenital hypomyelinating neuropathy
CMT4E|-|Autosomal recessive|Infancy
Neonatal|605253 +99952 99952|CMT4F|<1 / 1 000 000|Autosomal recessive|Childhood|614895 +99953 99953|CMT4G
HMSNR
Hereditary motor and sensory neuropathy, Russe Type|Unknown|Autosomal recessive|Childhood|605285 +99954 99954|CMT4H|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|609311 +99955 99955|CMT4B1|<1 / 1 000 000|Autosomal recessive|Infancy
Neonatal|601382 +99956 99956|CMT4B2|Unknown|Autosomal recessive|Childhood|604563 +99960 99960|BRIC type 1
BRIC1|-|-|-|243300 +99961 99961|BRIC type 2
BRIC2|-|-|-|605479 +99965 99965|-|-|-|-| +99966 99966|ATRT|Unknown|-|Antenatal
Neonatal
Infancy
Childhood|609322 +99967 99967|MRCLS|Unknown|Not applicable|Adult|613488 +99969 99969|PLS|Unknown|Not applicable|Adult| +99970 99970|DDLS|Unknown|Not applicable|Adult| +99971 99971|ALT
Atypical lipoma
Atypical lipomatous tumor
WDLS|Unknown|Not applicable|Adult| +99976 99976|Esophageal adenocarcinoma|1-9 / 100 000|Not applicable|Adult|614266 +99977 99977|ESCC
Esophageal epidermoid carcinoma
Esophageal squamous cell carcinoma|1-9 / 100 000|Not applicable|Adult|133239 +99978 99978|Hilar CCA
Hilar cholangiocarcinoma|1-9 / 100 000|Not applicable|Adult| +99981 99981|-|1-9 / 100 000|-|Infancy
Neonatal| +99983 99983|-|-|-|-| +99989 99989|Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form|Unknown|Not applicable
or Autosomal dominant
or Autosomal recessive|Neonatal
Infancy| +99990 99990|Brill disease
Recrudescent typhus|-|-|-| +99991 99991|-|-|-|-| +99994 99994|Causalgia|Unknown|-|All ages| +99995 99995|Algodystrophy
Reflex sympathetic dystrophy|-|-|All ages|604335