Path 1 |
disease |
17775 |
|
Developmental Disease |
17563 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
17450 |
|
genetic disease |
17428 |
|
monogenic disease |
10075 |
|
autosomal genetic disease |
9277 |
|
autosomal recessive disease |
6412 |
|
17-beta hydroxysteroid dehydrogenase 3 deficiency + |
5 |
|
2-aminoadipic 2-oxoadipic aciduria |
2 |
|
3-M syndrome + |
4 |
|
3-methylcrotonyl-CoA carboxylase deficiency + |
29 |
|
3-methylglutaconic aciduria type 1 |
3 |
|
3-methylglutaconic aciduria type 3 |
1 |
|
3-methylglutaconic aciduria type 5 |
3 |
|
3-methylglutaconic aciduria type 8 |
2 |
|
3-methylglutaconic aciduria type 9 |
1 |
|
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia + |
55 |
|
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
26 |
|
3MC syndrome + |
20 |
|
46,XY sex reversal 5 |
1 |
|
46,XY sex reversal 7 |
1 |
|
46,XY sex reversal 8 |
0 |
|
ABCD syndrome |
1 |
|
AGAT deficiency |
16 |
|
AMED syndrome |
2 |
|
ARC syndrome + |
3 |
|
Alkuraya-Kucinskas syndrome |
1 |
|
Alpers-Huttenlocher syndrome + |
7 |
|
Alstrom syndrome |
14 |
|
Antley-Bixler syndrome with disordered steroidogenesis |
2 |
|
Athabaskan brainstem dysgenesis syndrome |
2 |
|
Autosomal Recessive Cutis Laxa + |
36 |
|
Autosomal Recessive Dyskeratosis Congenita + |
25 |
|
Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development |
2 |
|
Autosomal Recessive Robinow Syndrome 2 |
1 |
|
Autosomal Recessive Woolly Hair + |
3 |
|
BH4-deficient hyperphenylalaninemia A |
28 |
|
BH4-deficient hyperphenylalaninemia B |
1 |
|
BH4-deficient hyperphenylalaninemia C |
1 |
|
BH4-deficient hyperphenylalaninemia D |
1 |
|
Bardet-Biedl syndrome + |
233 |
|
Becker disease |
2 |
|
Behr syndrome |
1 |
|
Bernard-Soulier syndrome + |
4 |
|
Bjornstad syndrome |
1 |
|
Bloom syndrome |
461 |
|
Boucher-Neuhauser syndrome |
3 |
|
Bowen-Conradi syndrome |
1 |
|
Brown-Vialetto-Van Laere syndrome 1 |
8 |
|
Brown-Vialetto-Van Laere syndrome 2 |
49 |
|
CD3epsilon deficiency |
72 |
|
CD3gamma deficiency |
0 |
|
CEDNIK syndrome |
2 |
|
CHIME syndrome |
1 |
|
COACH syndrome + |
5 |
|
CODAS syndrome |
1 |
|
CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY |
1 |
|
Canavan disease |
17 |
|
Caroli syndrome |
1 |
|
Charcot-Marie-Tooth disease axonal type 2H |
0 |
|
Charcot-Marie-Tooth disease axonal type 2K |
7 |
|
Charcot-Marie-Tooth disease axonal type 2P |
1 |
|
Charcot-Marie-Tooth disease axonal type 2S |
1 |
|
Charcot-Marie-Tooth disease axonal type 2T |
2 |
|
Charcot-Marie-Tooth disease axonal type 2X |
1 |
|
Charcot-Marie-Tooth disease recessive intermediate A |
2 |
|
Charcot-Marie-Tooth disease recessive intermediate B |
1 |
|
Charcot-Marie-Tooth disease recessive intermediate C |
1 |
|
Charcot-Marie-Tooth disease recessive intermediate D |
1 |
|
Charcot-Marie-Tooth disease type 1F |
1 |
|
Charcot-Marie-Tooth disease type 2A2B |
1 |
|
Charcot-Marie-Tooth disease type 2B1 |
1 |
|
Charcot-Marie-Tooth disease type 2B2 |
2 |
|
Charcot-Marie-Tooth disease type 2EE |
5 |
|
Charcot-Marie-Tooth disease type 2R |
1 |
|
Charcot-Marie-Tooth disease type 3 |
10 |
|
Charcot-Marie-Tooth disease type 4A |
4 |
|
Charcot-Marie-Tooth disease type 4B1 |
1 |
|
Charcot-Marie-Tooth disease type 4B2 |
1 |
|
Charcot-Marie-Tooth disease type 4B3 |
2 |
|
Charcot-Marie-Tooth disease type 4C |
1 |
|
Charcot-Marie-Tooth disease type 4D |
1 |
|
Charcot-Marie-Tooth disease type 4E |
3 |
|
Charcot-Marie-Tooth disease type 4F |
1 |
|
Charcot-Marie-Tooth disease type 4G |
1 |
|
Charcot-Marie-Tooth disease type 4H |
1 |
|
Charcot-Marie-Tooth disease type 4J |
1 |
|
Charcot-Marie-Tooth disease type 4K |
1 |
|
Chediak-Higashi syndrome + |
35 |
|
Cockayne syndrome + |
15 |
|
Cohen syndrome |
36 |
|
Compton-North congenital myopathy |
1 |
|
D-2-hydroxyglutaric aciduria 1 |
52 |
|
D-glyceric aciduria |
1 |
|
DEGCAGS SYNDROME |
1 |
|
DNA ligase IV deficiency |
1 |
|
DOORS syndrome |
2 |
|
Donnai-Barrow syndrome |
2 |
|
Donohue syndrome |
1 |
|
Dubowitz syndrome |
0 |
|
Dyggve-Melchior-Clausen disease + |
2 |
|
EAST syndrome |
4 |
|
Ehlers-Danlos syndrome cardiac valvular type |
3 |
|
Ehlers-Danlos syndrome classic-like 1 |
2 |
|
Ehlers-Danlos syndrome classic-like 2 |
1 |
|
Ehlers-Danlos syndrome dermatosparaxis type |
61 |
|
Ehlers-Danlos syndrome kyphoscoliotic type 1 |
7 |
|
Ehlers-Danlos syndrome kyphoscoliotic type 2 |
11 |
|
Ehlers-Danlos syndrome musculocontractural type 1 |
1 |
|
Ehlers-Danlos syndrome musculocontractural type 2 |
1 |
|
Ehlers-Danlos syndrome spondylodysplastic type 1 |
2 |
|
Ehlers-Danlos syndrome spondylodysplastic type 2 |
109 |
|
Eiken syndrome |
1 |
|
Ellis-Van Creveld syndrome + |
49 |
|
Fanconi anemia complementation group A + |
22 |
|
Fanconi anemia complementation group C |
3 |
|
Fanconi anemia complementation group D1 |
1 |
|
Fanconi anemia complementation group D2 |
2 |
|
Fanconi anemia complementation group E |
1 |
|
Fanconi anemia complementation group I |
2 |
|
Fanconi anemia complementation group L |
2 |
|
Fanconi anemia complementation group O |
6 |
|
Fanconi anemia complementation group P |
1 |
|
Fanconi anemia complementation group Q |
1 |
|
Fanconi anemia complementation group T |
2 |
|
Fanconi anemia complementation group U |
1 |
|
Fanconi anemia complementation group V |
1 |
|
Fanconi renotubular syndrome 2 |
1 |
|
Fanconi renotubular syndrome 5 |
1 |
|
Fazio-Londe disease |
1 |
|
Filippi syndrome |
2 |
|
Frank-Ter Haar syndrome |
1 |
|
Fraser syndrome + |
19 |
|
Fuhrmann syndrome |
1 |
|
GAPO syndrome |
1 |
|
GNE myopathy |
4 |
|
GRACILE syndrome |
1 |
|
Galloway-Mowat syndrome + |
13 |
|
Galloway-Mowat syndrome 1 |
3 |
|
Galloway-Mowat syndrome 3 |
1 |
|
Galloway-Mowat syndrome 4 |
1 |
|
Gaucher's disease type III + |
1 |
|
Ghosal hematodiaphyseal syndrome |
1 |
|
Gitelman syndrome |
9 |
|
Goldberg-Shprintzen syndrome |
56 |
|
Gordon Holmes syndrome |
1 |
|
Greenberg dysplasia |
1 |
|
Griscelli syndrome + |
7 |
|
HMG-CoA synthase 2 deficiency |
2 |
|
Harel-Yoon syndrome |
2 |
|
Heimler syndrome 1 |
4 |
|
Heimler syndrome 2 |
1 |
|
Hengel-Maroofian-Schols syndrome |
1 |
|
Jackson-Weiss syndrome |
2 |
|
Jalili syndrome |
1 |
|
Johanson-Blizzard syndrome |
1 |
|
Kahrizi syndrome |
1 |
|
Kaufman oculocerebrofacial syndrome |
1 |
|
Kenny-Caffey syndrome type 1 |
2 |
|
Klippel-Feil syndrome 2 |
2 |
|
Klippel-Feil syndrome 4 |
1 |
|
Kohlschutter-Tonz syndrome |
22 |
|
Kufor-Rakeb syndrome |
1 |
|
Lafora disease + |
3 |
|
Laron syndrome |
2 |
|
Larsen-like syndrome B3GAT3 type |
13 |
|
Laurence-Moon syndrome |
1 |
|
Leber congenital amaurosis 1 |
9 |
|
Leber congenital amaurosis 12 |
1 |
|
Leber congenital amaurosis 13 |
16 |
|
Leber congenital amaurosis 14 |
2 |
|
Leber congenital amaurosis 15 |
1 |
|
Leber congenital amaurosis 16 |
2 |
|
Leber congenital amaurosis 17 |
1 |
|
Leber congenital amaurosis 2 |
4 |
|
Leber congenital amaurosis 4 |
7 |
|
Leber congenital amaurosis 5 |
2 |
|
Leber congenital amaurosis 6 |
2 |
|
Leber congenital amaurosis 8 |
1 |
|
Leber congenital amaurosis 9 |
1 |
|
Leukoencephalomyelopathy |
1 |
|
Leydig cell hypoplasia + |
2 |
|
Mahvash disease |
1 |
|
Martsolf Syndrome + |
20 |
|
McKusick-Kaufman syndrome |
1 |
|
Meckel syndrome 13 |
1 |
|
Meier-Gorlin syndrome 1 |
3 |
|
Meier-Gorlin syndrome 2 |
1 |
|
Meier-Gorlin syndrome 3 |
2 |
|
Meier-Gorlin syndrome 4 |
1 |
|
Meier-Gorlin syndrome 5 |
1 |
|
Meier-Gorlin syndrome 7 |
1 |
|
Meier-Gorlin syndrome 8 |
1 |
|
Microvillus Inclusion Disease 2 |
1 |
|
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive + |
3 |
|
Miyoshi muscular dystrophy 1 |
1 |
|
Miyoshi muscular dystrophy 3 |
1 |
|
N-acetylglutamate synthase deficiency |
1 |
|
NGLY1-deficiency |
3 |
|
Native American myopathy |
3 |
|
Nestor-Guillermo progeria syndrome |
2 |
|
Nezelof syndrome |
0 |
|
Nijmegen breakage syndrome + |
5 |
|
Noonan syndrome 2 |
1 |
|
Norman-Roberts syndrome |
5 |
|
Oguchi disease-1 |
1 |
|
Oguchi disease-2 |
2 |
|
Oliver-McFarlane syndrome |
1 |
|
PHARC syndrome |
1 |
|
PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY |
1 |
|
Paget's disease of bone 5 |
2 |
|
Papillon-Lefevre disease + |
3 |
|
Parkinson's disease 14 |
2 |
|
Parkinson's disease 15 |
2 |
|
Parkinson's disease 19A |
1 |
|
Parkinson's disease 2 |
6 |
|
Parkinson's disease 20 |
35 |
|
Parkinson's disease 23 |
1 |
|
Parkinson's disease 25 |
1 |
|
Parkinson's disease 6 |
49 |
|
Parkinson's disease 7 |
1 |
|
Pendred syndrome |
7 |
|
Perrault syndrome + |
8 |
|
Pierson syndrome |
15 |
|
Pitt-Hopkins-like syndrome 2 |
11 |
|
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly + |
2 |
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive + |
10 |
|
RNASET2-deficient cystic leukoencephalopathy |
3 |
|
Riddle syndrome |
1 |
|
Ritscher-Schinzel syndrome 1 |
3 |
|
Roberts syndrome |
1 |
|
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome |
1 |
|
Ruijs-Aalfs syndrome |
1 |
|
SOST-related sclerosing bone dysplasia |
3 |
|
SPOAN syndrome |
1 |
|
Saldino-Noonan syndrome |
1 |
|
Sandestig-Stefanova syndrome |
1 |
|
Schimke immuno-osseous dysplasia |
1 |
|
Schindler disease + |
2 |
|
Schinzel type phocomelia |
1 |
|
Schwartz-Jampel syndrome 1 |
3 |
|
Seckel syndrome + |
14 |
|
Sengers syndrome |
2 |
|
Senior-Loken syndrome + |
20 |
|
Silverman-Handmaker type dyssegmental dysplasia |
2 |
|
Sjogren-Larsson syndrome + |
2 |
|
Spondylocostal Dysostosis, Autosomal Recessive + |
8 |
|
T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
1 |
|
TANGO2-related metabolic encephalopathy and arrythmias |
2 |
|
Temtamy syndrome |
63 |
|
Treacher Collins syndrome 2 |
1 |
|
Treacher Collins syndrome 3 |
1 |
|
Troyer syndrome |
2 |
|
Tukel syndrome |
0 |
|
UV-sensitive syndrome + |
3 |
|
Ullrich congenital muscular dystrophy + |
5 |
|
Usher syndrome + |
67 |
|
Van Maldergem syndrome + |
2 |
|
Van den Ende-Gupta syndrome |
1 |
|
Vici syndrome |
18 |
|
Walker-Warburg syndrome + |
68 |
|
Warburg micro syndrome + |
4 |
|
Warsaw breakage syndrome |
1 |
|
Werner syndrome + |
5 |
|
Wiedemann-Rautenstrauch syndrome |
3 |
|
Wolcott-Rallison syndrome |
1 |
|
Wolfram syndrome 1 |
1 |
|
Wolfram syndrome 2 |
2 |
|
Woodhouse-Sakati syndrome |
2 |
|
XFE progeroid syndrome |
2 |
|
Yoon-Bellen neurodevelopmental syndrome |
1 |
|
Yunis-Varon syndrome |
2 |
|
Zaki syndrome |
1 |
|
Zellweger syndrome + |
87 |
|
abetalipoproteinemia + |
3 |
|
aceruloplasminemia |
3 |
|
achalasia microcephaly syndrome |
0 |
|
acheiropody |
1 |
|
achondrogenesis type IA |
40 |
|
achondrogenesis type IB |
1 |
|
achromatopsia 2 |
1 |
|
achromatopsia 3 |
1 |
|
achromatopsia 7 |
1 |
|
acrocapitofemoral dysplasia |
1 |
|
acromesomelic dysplasia, Grebe type |
1 |
|
acromesomelic dysplasia, Hunter-Thompson type |
2 |
|
acromesomelic dysplasia, Maroteaux type |
86 |
|
acromesomelic dysplasia-4 |
1 |
|
acrorenal syndrome + |
0 |
|
adenine phosphoribosyltransferase deficiency |
3 |
|
adult spinal muscular atrophy |
1 |
|
agammaglobulinemia 1 |
2 |
|
agammaglobulinemia 2 |
9 |
|
agammaglobulinemia 3 |
2 |
|
agammaglobulinemia 4 |
7 |
|
agammaglobulinemia 6 |
1 |
|
agammaglobulinemia 7 |
1 |
|
agammaglobulinemia 8B |
1 |
|
agammaglobulinemia 9 |
1 |
|
agenesis of the corpus callosum with peripheral neuropathy |
5 |
|
alacrima, achalasia, and impaired intellectual development syndrome |
50 |
|
alopecia universalis + |
2 |
|
alopecia, neurologic defects, and endocrinopathy syndrome |
1 |
|
alopecia-mental retardation syndrome 1 |
1 |
|
alopecia-mental retardation syndrome 2 |
0 |
|
alopecia-mental retardation syndrome 3 |
0 |
|
alopecia-mental retardation syndrome 4 |
2 |
|
alpha-2-plasmin inhibitor deficiency |
1 |
|
amelogenesis imperfecta hypomaturation type 2A2 |
1 |
|
amelogenesis imperfecta hypomaturation type 2A3 |
1 |
|
amelogenesis imperfecta hypomaturation type 2A4 |
1 |
|
amelogenesis imperfecta hypomaturation type 2A5 |
1 |
|
amelogenesis imperfecta type 1C |
3 |
|
amelogenesis imperfecta type 1F |
1 |
|
amelogenesis imperfecta type 1G |
2 |
|
amelogenesis imperfecta type 1H |
1 |
|
amelogenesis imperfecta type 1J |
1 |
|
amelogenesis imperfecta type 2A1 |
1 |
|
amelogenesis imperfecta type 2A6 |
1 |
|
amelogenesis imperfecta type 3C |
1 |
|
amyotrophic lateral sclerosis type 1 |
110 |
|
anauxetic dysplasia 1 |
2 |
|
anauxetic dysplasia 2 |
1 |
|
anauxetic dysplasia 3 |
1 |
|
anterior segment dysgenesis 2 + |
3 |
|
anterior segment dysgenesis 7 |
1 |
|
anterior segment dysgenesis 8 |
2 |
|
antithrombin III deficiency |
20 |
|
arthrogryposis multiplex congenita + |
242 |
|
asphyxiating thoracic dystrophy 1 |
16 |
|
asphyxiating thoracic dystrophy 2 |
1 |
|
asphyxiating thoracic dystrophy 3 |
9 |
|
asphyxiating thoracic dystrophy 4 |
1 |
|
asphyxiating thoracic dystrophy 5 |
1 |
|
atransferrinemia |
2 |
|
atrial standstill 2 |
1 |
|
atrichia with papular lesions |
1 |
|
autoimmune lymphoproliferative syndrome type 2B |
27 |
|
autoimmune lymphoproliferative syndrome type 3 |
2 |
|
autosomal recessive Alport syndrome |
5 |
|
autosomal recessive Emery-Dreifuss muscular dystrophy 3 |
1 |
|
autosomal recessive Robinow syndrome |
2 |
|
autosomal recessive Whistling face syndrome |
0 |
|
autosomal recessive centronuclear myopathy + |
14 |
|
autosomal recessive cerebellar ataxia + |
162 |
|
autosomal recessive chronic granulomatous disease 1 |
1 |
|
autosomal recessive chronic granulomatous disease 2 |
31 |
|
autosomal recessive chronic granulomatous disease 3 |
5 |
|
autosomal recessive chronic granulomatous disease 4 |
42 |
|
autosomal recessive chronic granulomatous disease 5 |
1 |
|
autosomal recessive congenital bilateral absence of vas deferens |
2 |
|
autosomal recessive congenital ichthyosis + |
49 |
|
autosomal recessive congenital nystagmus |
1 |
|
autosomal recessive craniometaphyseal dysplasia |
1 |
|
autosomal recessive distal hereditary motor neuronopathy + |
62 |
|
autosomal recessive hyaline body myopathy |
1 |
|
autosomal recessive hypophosphatemic rickets + |
2 |
|
autosomal recessive intellectual developmental disorder + |
290 |
|
autosomal recessive isolated ectopia lentis 2 |
1 |
|
autosomal recessive limb-girdle muscular dystrophy + |
110 |
|
autosomal recessive nonsyndromic deafness + |
129 |
|
autosomal recessive osteopetrosis 1 |
3 |
|
autosomal recessive osteopetrosis 2 |
1 |
|
autosomal recessive osteopetrosis 3 |
1 |
|
autosomal recessive osteopetrosis 4 |
1 |
|
autosomal recessive osteopetrosis 5 |
1 |
|
autosomal recessive osteopetrosis 6 |
1 |
|
autosomal recessive osteopetrosis 7 |
1 |
|
autosomal recessive osteopetrosis 8 |
1 |
|
autosomal recessive pericentral pigmentary retinopathy |
0 |
|
autosomal recessive polycystic kidney disease + |
34 |
|
autosomal recessive pseudohypoaldosteronism type 1 + |
5 |
|
autosomal recessive pyridoxine-refractory sideroblastic anemia 2 |
2 |
|
autosomal recessive pyridoxine-refractory sideroblastic anemia 3 |
1 |
|
autosomal recessive spondyloepiphyseal dysplasia tarda |
1 |
|
autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type |
0 |
|
autosomal recessive thrombophilia due to protein C deficiency |
1 |
|
autosomal recessive thrombophilia due to protein S deficiency |
5 |
|
autosomal recessive type IV Ehlers-Danlos syndrome |
0 |
|
axial spondylometaphyseal dysplasia |
1 |
|
benign recurrent intrahepatic cholestasis 1 |
1 |
|
benign recurrent intrahepatic cholestasis 2 |
1 |
|
beta-ketothiolase deficiency |
7 |
|
bilateral frontoparietal polymicrogyria |
1 |
|
bilateral parasagittal parieto-occipital polymicrogyria |
1 |
|
biotinidase deficiency + |
2 |
|
brachyolmia-amelogenesis imperfecta syndrome |
2 |
|
bradyopsia + |
2 |
|
brain small vessel disease 3 |
1 |
|
branched-chain keto acid dehydrogenase kinase deficiency |
37 |
|
brittle cornea syndrome 1 |
2 |
|
brittle cornea syndrome 2 |
1 |
|
camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
2 |
|
carbamoyl phosphate synthetase I deficiency disease |
1 |
|
carboxypeptidase N deficiency |
1 |
|
carnitine-acylcarnitine translocase deficiency |
1 |
|
cartilage-hair hypoplasia |
1 |
|
cataract 11 multiple types + |
2 |
|
cataract 13 with adult i phenotype |
7 |
|
cataract 16 multiple types |
2 |
|
cataract 17 multiple types |
2 |
|
cataract 18 |
1 |
|
cataract 19 multiple types |
1 |
|
cataract 22 multiple types |
1 |
|
cataract 33 |
3 |
|
cataract 35 |
0 |
|
cataract 36 |
1 |
|
cataract 38 |
1 |
|
cataract 44 |
1 |
|
cataract 45 |
1 |
|
cataract 46 juvenile-onset |
1 |
|
cataract 48 |
1 |
|
cataract 9 multiple types |
64 |
|
cerebellar atrophy, visual impairment, and psychomotor retardation |
1 |
|
cerebellofaciodental syndrome |
1 |
|
cerebral folate receptor alpha deficiency |
14 |
|
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities |
1 |
|
chondrodysplasia with joint dislocations gPAPP type |
1 |
|
choreaacanthocytosis |
3 |
|
classic dopamine transporter deficiency syndrome |
1 |
|
classic galactosemia |
1 |
|
cleft lip-palate-ectodermal dysplasia syndrome |
1 |
|
cold-induced sweating syndrome + |
3 |
|
combined D-2- and L-2-hydroxyglutaric aciduria |
1 |
|
combined cellular and humoral immune defects with granulomas |
3 |
|
combined deficiency of vitamin K-dependent clotting factors 1 |
2 |
|
combined deficiency of vitamin K-dependent clotting factors 2 |
1 |
|
combined malonic and methylmalonic acidemia |
1 |
|
combined oxidative phosphorylation deficiency 1 |
6 |
|
combined oxidative phosphorylation deficiency 10 |
2 |
|
combined oxidative phosphorylation deficiency 11 |
1 |
|
combined oxidative phosphorylation deficiency 12 |
2 |
|
combined oxidative phosphorylation deficiency 13 |
1 |
|
combined oxidative phosphorylation deficiency 14 |
4 |
|
combined oxidative phosphorylation deficiency 15 |
1 |
|
combined oxidative phosphorylation deficiency 16 |
1 |
|
combined oxidative phosphorylation deficiency 17 |
1 |
|
combined oxidative phosphorylation deficiency 18 |
1 |
|
combined oxidative phosphorylation deficiency 19 |
2 |
|
combined oxidative phosphorylation deficiency 2 |
1 |
|
combined oxidative phosphorylation deficiency 20 |
1 |
|
combined oxidative phosphorylation deficiency 21 |
1 |
|
combined oxidative phosphorylation deficiency 22 |
1 |
|
combined oxidative phosphorylation deficiency 23 |
1 |
|
combined oxidative phosphorylation deficiency 24 |
1 |
|
combined oxidative phosphorylation deficiency 25 |
1 |
|
combined oxidative phosphorylation deficiency 26 |
1 |
|
combined oxidative phosphorylation deficiency 27 |
2 |
|
combined oxidative phosphorylation deficiency 28 |
1 |
|
combined oxidative phosphorylation deficiency 29 |
1 |
|
combined oxidative phosphorylation deficiency 3 |
2 |
|
combined oxidative phosphorylation deficiency 30 |
1 |
|
combined oxidative phosphorylation deficiency 31 |
1 |
|
combined oxidative phosphorylation deficiency 32 |
2 |
|
combined oxidative phosphorylation deficiency 33 |
1 |
|
combined oxidative phosphorylation deficiency 34 |
2 |
|
combined oxidative phosphorylation deficiency 35 |
1 |
|
combined oxidative phosphorylation deficiency 36 |
1 |
|
combined oxidative phosphorylation deficiency 37 |
1 |
|
combined oxidative phosphorylation deficiency 38 |
1 |
|
combined oxidative phosphorylation deficiency 39 |
1 |
|
combined oxidative phosphorylation deficiency 4 |
1 |
|
combined oxidative phosphorylation deficiency 40 |
2 |
|
combined oxidative phosphorylation deficiency 41 |
1 |
|
combined oxidative phosphorylation deficiency 42 |
1 |
|
combined oxidative phosphorylation deficiency 43 |
1 |
|
combined oxidative phosphorylation deficiency 44 |
1 |
|
combined oxidative phosphorylation deficiency 45 |
1 |
|
combined oxidative phosphorylation deficiency 46 |
1 |
|
combined oxidative phosphorylation deficiency 47 |
1 |
|
combined oxidative phosphorylation deficiency 48 |
1 |
|
combined oxidative phosphorylation deficiency 49 |
1 |
|
combined oxidative phosphorylation deficiency 5 |
1 |
|
combined oxidative phosphorylation deficiency 50 |
1 |
|
combined oxidative phosphorylation deficiency 51 |
1 |
|
combined oxidative phosphorylation deficiency 52 |
1 |
|
combined oxidative phosphorylation deficiency 53 |
1 |
|
combined oxidative phosphorylation deficiency 54 |
1 |
|
combined oxidative phosphorylation deficiency 56 |
1 |
|
combined oxidative phosphorylation deficiency 57 |
1 |
|
combined oxidative phosphorylation deficiency 7 |
2 |
|
combined oxidative phosphorylation deficiency 8 |
3 |
|
combined oxidative phosphorylation deficiency 9 |
1 |
|
common variable immunodeficiency + |
234 |
|
congenital adrenal insufficiency |
1 |
|
congenital afibrinogenemia + |
5 |
|
congenital amegakaryocytic thrombocytopenia + |
2 |
|
congenital diarrhea 5 with tufting enteropathy |
1 |
|
congenital diarrhea 7 with exudative enteropathy |
1 |
|
congenital disorder of glycosylation Ia |
7 |
|
congenital disorder of glycosylation Iaa |
26 |
|
congenital disorder of glycosylation Ib |
2 |
|
congenital disorder of glycosylation Ic |
1 |
|
congenital disorder of glycosylation Id |
27 |
|
congenital disorder of glycosylation Ie |
3 |
|
congenital disorder of glycosylation If |
2 |
|
congenital disorder of glycosylation Ig |
34 |
|
congenital disorder of glycosylation Ih |
1 |
|
congenital disorder of glycosylation Ii |
26 |
|
congenital disorder of glycosylation Ij |
9 |
|
congenital disorder of glycosylation Ik |
2 |
|
congenital disorder of glycosylation Il |
10 |
|
congenital disorder of glycosylation Im |
2 |
|
congenital disorder of glycosylation In |
29 |
|
congenital disorder of glycosylation Ip |
2 |
|
congenital disorder of glycosylation Iq |
1 |
|
congenital disorder of glycosylation Ir |
45 |
|
congenital disorder of glycosylation It |
1 |
|
congenital disorder of glycosylation Iu |
23 |
|
congenital disorder of glycosylation Iw |
2 |
|
congenital disorder of glycosylation Ix |
1 |
|
congenital disorder of glycosylation type IIa |
3 |
|
congenital disorder of glycosylation type IIb |
43 |
|
congenital disorder of glycosylation type IIc |
41 |
|
congenital disorder of glycosylation type IId |
1 |
|
congenital disorder of glycosylation type IIe |
9 |
|
congenital disorder of glycosylation type IIf |
2 |
|
congenital disorder of glycosylation type IIg |
2 |
|
congenital disorder of glycosylation type IIh |
2 |
|
congenital disorder of glycosylation type IIi |
4 |
|
congenital disorder of glycosylation type IIj |
3 |
|
congenital disorder of glycosylation type IIk |
20 |
|
congenital disorder of glycosylation type IIl |
1 |
|
congenital disorder of glycosylation type IIn |
1 |
|
congenital disorder of glycosylation type IIo |
1 |
|
congenital disorder of glycosylation type IIp |
1 |
|
congenital disorder of glycosylation type IIq |
12 |
|
congenital dyserythropoietic anemia type II |
3 |
|
congenital dyserythropoietic anemia type Ia |
1 |
|
congenital dyserythropoietic anemia type Ib |
1 |
|
congenital fibrosis of the extraocular muscles 2 |
1 |
|
congenital fibrosis of the extraocular muscles 5 |
1 |
|
congenital generalized lipodystrophy + |
7 |
|
congenital heart defects, hamartomas of tongue, and polysyndactyly |
1 |
|
congenital hereditary endothelial dystrophy of cornea |
1 |
|
congenital hypotrichosis with juvenile macular dystrophy |
1 |
|
congenital lactase deficiency |
1 |
|
congenital leptin deficiency |
1 |
|
congenital limbs-face contractures-hypotonia-developmental delay syndrome |
1 |
|
congenital malabsorptive diarrhea 4 |
1 |
|
congenital merosin-deficient muscular dystrophy 1A + |
3 |
|
congenital muscular dystrophy 1B |
0 |
|
congenital muscular dystrophy due to integrin alpha-7 deficiency |
3 |
|
congenital muscular dystrophy with cataracts and intellectual disability |
1 |
|
congenital muscular dystrophy-dystroglycanopathy type A + |
55 |
|
congenital myasthenic syndrome 10 |
1 |
|
congenital myasthenic syndrome 11 |
1 |
|
congenital myasthenic syndrome 12 |
2 |
|
congenital myasthenic syndrome 13 |
9 |
|
congenital myasthenic syndrome 14 |
24 |
|
congenital myasthenic syndrome 15 |
1 |
|
congenital myasthenic syndrome 16 |
1 |
|
congenital myasthenic syndrome 17 |
1 |
|
congenital myasthenic syndrome 19 |
1 |
|
congenital myasthenic syndrome 1B |
3 |
|
congenital myasthenic syndrome 20 |
2 |
|
congenital myasthenic syndrome 21 |
2 |
|
congenital myasthenic syndrome 22 |
2 |
|
congenital myasthenic syndrome 2C |
1 |
|
congenital myasthenic syndrome 3B |
1 |
|
congenital myasthenic syndrome 3C |
1 |
|
congenital myasthenic syndrome 4A |
12 |
|
congenital myasthenic syndrome 4B |
3 |
|
congenital myasthenic syndrome 4C |
9 |
|
congenital myasthenic syndrome 5 |
1 |
|
congenital myasthenic syndrome 6 |
3 |
|
congenital myasthenic syndrome 8 |
43 |
|
congenital myasthenic syndrome 9 |
1 |
|
congenital myopathy 10B |
1 |
|
congenital myopathy 14 |
1 |
|
congenital myopathy 17 |
1 |
|
congenital myopathy 18 |
1 |
|
congenital myopathy 19 |
1 |
|
congenital myopathy 1A + |
7 |
|
congenital myopathy 20 |
1 |
|
congenital myopathy 21 |
1 |
|
congenital myopathy 22A |
1 |
|
congenital myopathy 22B |
1 |
|
congenital myopathy 2B |
1 |
|
congenital myopathy 5 |
4 |
|
congenital myopathy 6 |
12 |
|
congenital myopathy 9A |
1 |
|
congenital myopathy 9B |
1 |
|
congenital nongoitrous hypothyroidism 1 |
4 |
|
congenital nongoitrous hypothyroidism 4 |
1 |
|
congenital nongoitrous hypothyroidism 7 |
1 |
|
congenital secretory chloride diarrhea 1 |
2 |
|
congenital secretory sodium diarrhea 3 |
1 |
|
congenital secretory sodium diarrhea 8 |
1 |
|
congenital stationary night blindness 1B |
2 |
|
congenital stationary night blindness 1C |
2 |
|
congenital stationary night blindness 1D |
1 |
|
congenital stationary night blindness 1E |
1 |
|
congenital stationary night blindness 1F |
1 |
|
congenital stationary night blindness 1G |
1 |
|
congenital stationary night blindness 1H |
2 |
|
congenital sucrase-isomaltase deficiency |
1 |
|
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B |
5 |
|
corneal dystrophy-perceptive deafness syndrome |
1 |
|
cortical dysplasia-focal epilepsy syndrome |
4 |
|
corticosterone methyloxidase deficiency 1 |
1 |
|
cortisone reductase deficiency 1 |
1 |
|
cranioectodermal dysplasia + |
9 |
|
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 |
1 |
|
craniolenticulosutural dysplasia |
1 |
|
craniotubular dysplasia Ikegawa type |
1 |
|
cystathioninuria |
1 |
|
cystic fibrosis + |
88 |
|
cystinosis + |
6 |
|
cytochrome P450 oxidoreductase deficiency |
2 |
|
developmental and epileptic encephalopathy 101 |
1 |
|
developmental and epileptic encephalopathy 102 |
1 |
|
developmental and epileptic encephalopathy 105 |
1 |
|
developmental and epileptic encephalopathy 106 |
2 |
|
developmental and epileptic encephalopathy 107 |
1 |
|
developmental and epileptic encephalopathy 110 |
1 |
|
developmental and epileptic encephalopathy 12 |
52 |
|
developmental and epileptic encephalopathy 15 |
1 |
|
developmental and epileptic encephalopathy 16 |
2 |
|
developmental and epileptic encephalopathy 18 |
2 |
|
developmental and epileptic encephalopathy 21 |
40 |
|
developmental and epileptic encephalopathy 23 |
5 |
|
developmental and epileptic encephalopathy 25 |
30 |
|
developmental and epileptic encephalopathy 28 |
5 |
|
developmental and epileptic encephalopathy 29 |
1 |
|
developmental and epileptic encephalopathy 3 |
1 |
|
developmental and epileptic encephalopathy 31B |
2 |
|
developmental and epileptic encephalopathy 34 |
1 |
|
developmental and epileptic encephalopathy 35 |
1 |
|
developmental and epileptic encephalopathy 37 |
6 |
|
developmental and epileptic encephalopathy 38 |
1 |
|
developmental and epileptic encephalopathy 39 |
1 |
|
developmental and epileptic encephalopathy 40 |
1 |
|
developmental and epileptic encephalopathy 44 |
2 |
|
developmental and epileptic encephalopathy 48 |
1 |
|
developmental and epileptic encephalopathy 49 |
1 |
|
developmental and epileptic encephalopathy 50 |
1 |
|
developmental and epileptic encephalopathy 51 |
1 |
|
developmental and epileptic encephalopathy 52 |
2 |
|
developmental and epileptic encephalopathy 53 |
1 |
|
developmental and epileptic encephalopathy 55 |
1 |
|
developmental and epileptic encephalopathy 60 |
1 |
|
developmental and epileptic encephalopathy 61 |
1 |
|
developmental and epileptic encephalopathy 63 |
1 |
|
developmental and epileptic encephalopathy 68 |
1 |
|
developmental and epileptic encephalopathy 71 |
1 |
|
developmental and epileptic encephalopathy 75 |
1 |
|
developmental and epileptic encephalopathy 76 |
2 |
|
developmental and epileptic encephalopathy 80 |
2 |
|
developmental and epileptic encephalopathy 81 |
1 |
|
developmental and epileptic encephalopathy 82 |
1 |
|
developmental and epileptic encephalopathy 83 |
2 |
|
developmental and epileptic encephalopathy 84 |
1 |
|
developmental and epileptic encephalopathy 86 |
1 |
|
developmental and epileptic encephalopathy 88 |
2 |
|
developmental and epileptic encephalopathy 89 |
1 |
|
developmental and epileptic encephalopathy 95 |
1 |
|
diastrophic dysplasia + |
1 |
|
dicarboxylic aminoaciduria |
1 |
|
dihydropyrimidinase deficiency |
1 |
|
dilated cardiomyopathy 1X |
1 |
|
dilated cardiomyopathy 2A |
3 |
|
dilated cardiomyopathy 2B |
1 |
|
dilated cardiomyopathy 2C |
2 |
|
dilated cardiomyopathy 2D |
1 |
|
dilated cardiomyopathy 2E |
1 |
|
dilated cardiomyopathy 2F |
1 |
|
dilated cardiomyopathy 2G |
1 |
|
diphthamide deficiency syndrome + |
4 |
|
distal arthrogryposis type 5D |
1 |
|
distal myopathy with anterior tibial onset |
1 |
|
dystonia 16 |
5 |
|
dystonia 27 |
1 |
|
dystonia 5 |
9 |
|
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome |
1 |
|
ectodermal dysplasia 10B |
4 |
|
ectodermal dysplasia 11B |
3 |
|
ectodermal dysplasia 13 |
2 |
|
ectodermal dysplasia 14 |
1 |
|
ectodermal dysplasia 15 |
1 |
|
ectodermal dysplasia 4 |
3 |
|
ectodermal dysplasia 5 |
0 |
|
ectodermal dysplasia 6 |
0 |
|
ectodermal dysplasia 7 |
1 |
|
ectodermal dysplasia 8 |
0 |
|
ectodermal dysplasia 9 |
1 |
|
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome |
1 |
|
ectopia lentis with ectopia of pupil |
1 |
|
endocrine-cerebro-osteodysplasia syndrome |
3 |
|
enhanced S-cone syndrome |
3 |
|
enterokinase deficiency |
1 |
|
epidermodysplasia verruciformis + |
6 |
|
epidermolysis bullosa simplex with muscular dystrophy |
60 |
|
erythrokeratodermia variabilis et progressiva 1 |
3 |
|
erythrokeratodermia variabilis et progressiva 4 |
1 |
|
erythrokeratodermia variabilis et progressiva 5 |
0 |
|
essential fructosuria |
2 |
|
factor V deficiency + |
5 |
|
factor VII deficiency |
2 |
|
factor X deficiency |
37 |
|
factor XII deficiency |
2 |
|
factor XIII deficiency + |
3 |
|
familial adenomatous polyposis 2 |
11 |
|
familial adenomatous polyposis 3 |
1 |
|
familial adenomatous polyposis 4 |
2 |
|
familial adult myoclonic epilepsy 5 |
89 |
|
familial apolipoprotein C-II deficiency |
1 |
|
familial benign fleck retina |
1 |
|
familial erythrocytosis 2 |
5 |
|
familial hemophagocytic lymphohistiocytosis 1 |
0 |
|
familial hemophagocytic lymphohistiocytosis 2 |
7 |
|
familial hemophagocytic lymphohistiocytosis 3 |
1 |
|
familial hemophagocytic lymphohistiocytosis 4 |
8 |
|
familial hepatic adenoma |
1 |
|
familial hyperinsulinemic hypoglycemia 1 |
3 |
|
familial hyperinsulinemic hypoglycemia 2 |
2 |
|
familial hyperinsulinemic hypoglycemia 4 |
2 |
|
familial hyperinsulinemic hypoglycemia 8 |
1 |
|
familial hypertryptophanemia |
1 |
|
familial isolated trichomegaly |
1 |
|
familial lipase maturation factor 1 deficiency |
1 |
|
familial lipoprotein lipase deficiency + |
4 |
|
familial partial lipodystrophy type 5 |
1 |
|
familial partial lipodystrophy type 6 |
1 |
|
familial temporal lobe epilepsy 5 |
1 |
|
fatal infantile hypertonic myofibrillar myopathy |
1 |
|
fetal akinesia deformation sequence syndrome 1 |
61 |
|
fetal akinesia deformation sequence syndrome 2 |
1 |
|
fetal akinesia deformation sequence syndrome 3 |
2 |
|
fetal akinesia deformation sequence syndrome 4 |
2 |
|
fetal encasement syndrome |
1 |
|
fibrochondrogenesis 1 |
2 |
|
fibrochondrogenesis 2 |
1 |
|
fibular hypoplasia and complex brachydactyly |
2 |
|
focal segmental glomerulosclerosis 6 |
2 |
|
focal segmental glomerulosclerosis 9 |
1 |
|
foveal hypoplasia 2 |
1 |
|
frontonasal dysplasia 1 |
1 |
|
frontonasal dysplasia 2 |
1 |
|
frontonasal dysplasia 3 |
1 |
|
fumarase deficiency |
8 |
|
galactose epimerase deficiency |
2 |
|
gamma-glutamyl transpeptidase deficiency |
1 |
|
gangliosidosis + |
40 |
|
gelatinous drop-like corneal dystrophy |
2 |
|
geleophysic dysplasia 1 |
1 |
|
geroderma osteodysplasticum |
1 |
|
giant axonal neuropathy 1 |
9 |
|
glucocorticoid deficiency 1 |
3 |
|
glutamate formiminotransferase deficiency |
2 |
|
glutamate-cysteine ligase deficiency |
1 |
|
glutaric acidemia I |
63 |
|
glutaric acidemia type 3 |
1 |
|
glutathione synthetase deficiency of erythrocytes |
1 |
|
glutatione synthetase deficiency with 5-oxoprolinuria |
1 |
|
glycogen storage disease II + |
5 |
|
glycogen storage disease III + |
2 |
|
glycogen storage disease IV + |
4 |
|
glycogen storage disease IXC |
1 |
|
glycogen storage disease Ia |
4 |
|
glycogen storage disease Ib |
33 |
|
glycogen storage disease Ic |
1 |
|
glycogen storage disease V |
81 |
|
glycogen storage disease VI |
1 |
|
glycogen storage disease VII |
2 |
|
glycogen storage disease XV |
30 |
|
gray platelet syndrome + |
3 |
|
growth hormone insensitivity syndrome with immune dysregulation 1 |
4 |
|
hepatic venoocclusive disease with immunodeficiency |
2 |
|
hereditary angioedema type I |
4 |
|
hereditary arterial and articular multiple calcification syndrome + |
12 |
|
hereditary folate malabsorption |
2 |
|
hereditary sensory and autonomic neuropathy type 2A |
10 |
|
hereditary sensory and autonomic neuropathy type 2B |
1 |
|
hereditary sensory and autonomic neuropathy type 5 |
2 |
|
hereditary sensory and autonomic neuropathy type 6 |
1 |
|
hereditary sensory and autonomic neuropathy type 8 |
1 |
|
hereditary sensory neuropathy type 2C |
1 |
|
hereditary sensory neuropathy type 4 |
4 |
|
hereditary spastic paraplegia 11 |
10 |
|
hereditary spastic paraplegia 14 |
0 |
|
hereditary spastic paraplegia 15 |
1 |
|
hereditary spastic paraplegia 18 |
1 |
|
hereditary spastic paraplegia 23 |
1 |
|
hereditary spastic paraplegia 24 |
0 |
|
hereditary spastic paraplegia 25 |
0 |
|
hereditary spastic paraplegia 26 |
1 |
|
hereditary spastic paraplegia 27 |
0 |
|
hereditary spastic paraplegia 28 |
2 |
|
hereditary spastic paraplegia 32 |
0 |
|
hereditary spastic paraplegia 35 |
1 |
|
hereditary spastic paraplegia 39 |
6 |
|
hereditary spastic paraplegia 43 |
1 |
|
hereditary spastic paraplegia 44 |
1 |
|
hereditary spastic paraplegia 45 |
2 |
|
hereditary spastic paraplegia 46 |
2 |
|
hereditary spastic paraplegia 47 |
30 |
|
hereditary spastic paraplegia 48 |
1 |
|
hereditary spastic paraplegia 49 |
2 |
|
hereditary spastic paraplegia 50 |
2 |
|
hereditary spastic paraplegia 51 |
2 |
|
hereditary spastic paraplegia 52 |
1 |
|
hereditary spastic paraplegia 53 |
20 |
|
hereditary spastic paraplegia 54 |
22 |
|
hereditary spastic paraplegia 55 |
1 |
|
hereditary spastic paraplegia 56 |
1 |
|
hereditary spastic paraplegia 57 |
1 |
|
hereditary spastic paraplegia 5A |
6 |
|
hereditary spastic paraplegia 61 |
1 |
|
hereditary spastic paraplegia 62 |
1 |
|
hereditary spastic paraplegia 63 |
49 |
|
hereditary spastic paraplegia 64 |
1 |
|
hereditary spastic paraplegia 7 |
2 |
|
hereditary spastic paraplegia 70 |
2 |
|
hereditary spastic paraplegia 72A |
1 |
|
hereditary spastic paraplegia 74 |
1 |
|
hereditary spastic paraplegia 75 |
81 |
|
hereditary spastic paraplegia 76 |
1 |
|
hereditary spastic paraplegia 77 |
2 |
|
hereditary spastic paraplegia 78 |
1 |
|
hereditary spastic paraplegia 79B |
1 |
|
hereditary spastic paraplegia 81 |
1 |
|
hereditary spastic paraplegia 82 |
1 |
|
hereditary spastic paraplegia 83 |
1 |
|
hereditary spastic paraplegia 84 |
1 |
|
hereditary spastic paraplegia 85 |
1 |
|
hereditary spastic paraplegia 86 |
1 |
|
hereditary spastic paraplegia 87 |
1 |
|
hereditary spastic paraplegia 89 |
1 |
|
hereditary spastic paraplegia 90B |
1 |
|
hereditary spastic paraplegia 9B |
1 |
|
hereditary spherocytosis type 1 |
4 |
|
hereditary spherocytosis type 3 |
2 |
|
hereditary spherocytosis type 5 |
1 |
|
high molecular weight kininogen deficiency |
1 |
|
high myopia-sensorineural deafness syndrome |
1 |
|
histiocytosis-lymphadenopathy plus syndrome |
1 |
|
homocystinuria-megaloblastic anemia cblE type |
1 |
|
homocystinuria-megaloblastic anemia cblG type |
1 |
|
hyaline fibromatosis syndrome |
2 |
|
hydrolethalus syndrome + |
3 |
|
hydroxykynureninuria |
1 |
|
hyper IgE recurrent infection syndrome 2 |
5 |
|
hyper IgE recurrent infection syndrome 3 |
1 |
|
hyper IgE recurrent infection syndrome 4 |
1 |
|
hyperekplexia 1 |
2 |
|
hyperekplexia 2 |
1 |
|
hyperekplexia 3 |
1 |
|
hyperekplexia 4 |
1 |
|
hyperphosphatemic familial tumoral calcinosis + |
118 |
|
hyperprolinemia type 1 |
1 |
|
hyperprolinemia type 2 |
45 |
|
hypertelorism, microtia, facial clefting syndrome |
0 |
|
hypogonadotropic hypogonadism 10 with or without anosmia |
1 |
|
hypogonadotropic hypogonadism 11 with or without anosmia |
1 |
|
hypogonadotropic hypogonadism 12 with or without anosmia |
3 |
|
hypogonadotropic hypogonadism 13 with or without anosmia |
1 |
|
hypogonadotropic hypogonadism 18 with or without anosmia |
1 |
|
hypogonadotropic hypogonadism 22 with or without anosmia |
1 |
|
hypogonadotropic hypogonadism 23 with or without anosmia |
1 |
|
hypogonadotropic hypogonadism 24 without anosmia |
1 |
|
hypogonadotropic hypogonadism 7 with or without anosmia |
23 |
|
hypogonadotropic hypogonadism 8 with or without anosmia |
1 |
|
hypomyelinating leukodystrophy 10 |
1 |
|
hypomyelinating leukodystrophy 11 |
1 |
|
hypomyelinating leukodystrophy 12 |
1 |
|
hypomyelinating leukodystrophy 13 |
1 |
|
hypomyelinating leukodystrophy 14 |
1 |
|
hypomyelinating leukodystrophy 15 |
1 |
|
hypomyelinating leukodystrophy 17 |
2 |
|
hypomyelinating leukodystrophy 18 |
1 |
|
hypomyelinating leukodystrophy 2 |
3 |
|
hypomyelinating leukodystrophy 20 |
1 |
|
hypomyelinating leukodystrophy 21 |
1 |
|
hypomyelinating leukodystrophy 23 |
1 |
|
hypomyelinating leukodystrophy 26 |
2 |
|
hypomyelinating leukodystrophy 3 |
1 |
|
hypomyelinating leukodystrophy 4 |
2 |
|
hypomyelinating leukodystrophy 5 |
8 |
|
hypomyelinating leukodystrophy 7 |
4 |
|
hypomyelinating leukodystrophy 8 |
3 |
|
hypomyelinating leukodystrophy 9 |
1 |
|
hypoparathyroidism-retardation-dysmorphism syndrome |
2 |
|
hypotrichosis 10 |
0 |
|
hypotrichosis 6 |
1 |
|
hypotrichosis 7 |
1 |
|
hypotrichosis 8 |
3 |
|
hypotrichosis 9 |
0 |
|
hypotrichosis-lymphedema-telangiectasia syndrome + |
1 |
|
immunodeficiency 10 |
1 |
|
immunodeficiency 11A |
6 |
|
immunodeficiency 12 |
16 |
|
immunodeficiency 15B |
18 |
|
immunodeficiency 16 |
70 |
|
immunodeficiency 17 |
72 |
|
immunodeficiency 18 |
72 |
|
immunodeficiency 19 |
72 |
|
immunodeficiency 20 |
1 |
|
immunodeficiency 22 |
1 |
|
immunodeficiency 23 |
8 |
|
immunodeficiency 24 |
3 |
|
immunodeficiency 25 |
11 |
|
immunodeficiency 26 |
5 |
|
immunodeficiency 27A |
13 |
|
immunodeficiency 28 |
4 |
|
immunodeficiency 29 |
1 |
|
immunodeficiency 30 |
1 |
|
immunodeficiency 31B |
19 |
|
immunodeficiency 32B |
4 |
|
immunodeficiency 35 |
1 |
|
immunodeficiency 37 |
1 |
|
immunodeficiency 38 |
70 |
|
immunodeficiency 40 |
10 |
|
immunodeficiency 41 |
1 |
|
immunodeficiency 42 |
188 |
|
immunodeficiency 43 |
1 |
|
immunodeficiency 44 |
2 |
|
immunodeficiency 45 |
1 |
|
immunodeficiency 46 |
1 |
|
immunodeficiency 48 |
1 |
|
immunodeficiency 51 |
34 |
|
immunodeficiency 52 |
1 |
|
immunodeficiency 53 |
1 |
|
immunodeficiency 54 |
1 |
|
immunodeficiency 55 |
1 |
|
immunodeficiency 56 |
1 |
|
immunodeficiency 57 |
1 |
|
immunodeficiency 58 |
2 |
|
immunodeficiency 59 |
1 |
|
immunodeficiency 61 |
1 |
|
immunodeficiency 62 |
3 |
|
immunodeficiency 63 |
1 |
|
immunodeficiency 64 |
1 |
|
immunodeficiency 65 |
1 |
|
immunodeficiency 66 |
1 |
|
immunodeficiency 69 |
1 |
|
immunodeficiency 7 |
1 |
|
immunodeficiency 71 |
1 |
|
immunodeficiency 72 |
1 |
|
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia |
1 |
|
immunodeficiency 79 |
1 |
|
immunodeficiency 9 |
1 |
|
immunodeficiency with hyper IgM type 3 |
1 |
|
immunodeficiency with hyper IgM type 5 |
2 |
|
immunodeficiency with hyper-IgM type 2 |
3 |
|
immunodeficiency-centromeric instability-facial anomalies syndrome + |
10 |
|
immunoglobulin alpha deficiency + |
7 |
|
infantile cerebellar-retinal degeneration |
2 |
|
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
1 |
|
infantile liver failure syndrome 1 |
1 |
|
infantile parkinsonism-dystonia 2 |
1 |
|
inflammatory bowel disease 25 |
2 |
|
inflammatory bowel disease 28 |
72 |
|
inflammatory poikiloderma with hair abnormalities and acral keratoses |
1 |
|
intellectual developmental disorder with cardiac arrhythmia |
1 |
|
intellectual developmental disorder with short stature and behavioral abnormalities |
1 |
|
intermediate spinal muscular atrophy |
1 |
|
isolated hyperchlorhidrosis |
1 |
|
isolated microphthalmia 1 |
0 |
|
isolated microphthalmia 2 |
2 |
|
isolated microphthalmia 3 |
16 |
|
isolated microphthalmia 5 |
72 |
|
isolated microphthalmia 6 |
4 |
|
isolated microphthalmia 8 |
1 |
|
isolated sulfite oxidase deficiency |
1 |
|
junctional epidermolysis bullosa Herlitz type + |
4 |
|
junctional epidermolysis bullosa non-Herlitz type + |
6 |
|
junctional epidermolysis bullosa with pyloric atresia |
4 |
|
karyomegalic interstitial nephritis |
2 |
|
keratosis pilaris atrophicans + |
3 |
|
late-adult onset retinitis pigmentosa |
0 |
|
lethal congenital contracture syndrome + |
13 |
|
leukocyte adhesion deficiency + |
167 |
|
leukoencephalopathy with vanishing white matter + |
8 |
|
lissencephaly 4 |
2 |
|
lissencephaly 5 |
2 |
|
lissencephaly 6 |
1 |
|
lissencephaly 7 with cerebellar hypoplasia |
1 |
|
lissencephaly 8 |
1 |
|
lymphoproliferative syndrome 1 |
10 |
|
lymphoproliferative syndrome 2 |
82 |
|
lysosomal acid lipase deficiency + |
7 |
|
mandibuloacral dysplasia type B lipodystrophy |
1 |
|
megaconial type congenital muscular dystrophy |
11 |
|
megalencephalic leukoencephalopathy with subcortical cysts 1 |
2 |
|
megalencephalic leukoencephalopathy with subcortical cysts 2A |
1 |
|
methemoglobinemia and ambiguous genitalia |
1 |
|
microcephalic osteodysplastic primordial dwarfism type I |
1 |
|
microcephalic osteodysplastic primordial dwarfism type II |
2 |
|
microcephaly and chorioretinopathy 1 |
4 |
|
microcephaly and chorioretinopathy 2 |
1 |
|
microcephaly and chorioretinopathy 3 |
2 |
|
microcephaly, seizures, and developmental delay |
2 |
|
microphthalmia with limb anomalies |
1 |
|
microvillus inclusion disease + |
3 |
|
mismatch repair cancer syndrome + |
13 |
|
mitochondrial DNA depletion syndrome 1 |
4 |
|
mitochondrial DNA depletion syndrome 11 |
1 |
|
mitochondrial DNA depletion syndrome 12b |
1 |
|
mitochondrial DNA depletion syndrome 13 |
1 |
|
mitochondrial DNA depletion syndrome 15 |
2 |
|
mitochondrial DNA depletion syndrome 16 |
2 |
|
mitochondrial DNA depletion syndrome 16B |
2 |
|
mitochondrial DNA depletion syndrome 17 |
1 |
|
mitochondrial DNA depletion syndrome 18 |
1 |
|
mitochondrial DNA depletion syndrome 19 |
1 |
|
mitochondrial DNA depletion syndrome 2 |
1 |
|
mitochondrial DNA depletion syndrome 20 |
1 |
|
mitochondrial DNA depletion syndrome 3 |
2 |
|
mitochondrial DNA depletion syndrome 4B |
2 |
|
mitochondrial DNA depletion syndrome 5 |
7 |
|
mitochondrial DNA depletion syndrome 6 |
3 |
|
mitochondrial DNA depletion syndrome 8A |
5 |
|
mitochondrial DNA depletion syndrome 8b |
1 |
|
mitochondrial DNA depletion syndrome 9 |
2 |
|
mitochondrial complex IV deficiency nuclear type 1 |
12 |
|
mitochondrial complex IV deficiency nuclear type 10 |
1 |
|
mitochondrial complex IV deficiency nuclear type 11 |
1 |
|
mitochondrial complex IV deficiency nuclear type 12 |
2 |
|
mitochondrial complex IV deficiency nuclear type 13 |
1 |
|
mitochondrial complex IV deficiency nuclear type 14 |
1 |
|
mitochondrial complex IV deficiency nuclear type 15 |
1 |
|
mitochondrial complex IV deficiency nuclear type 16 |
1 |
|
mitochondrial complex IV deficiency nuclear type 17 |
14 |
|
mitochondrial complex IV deficiency nuclear type 18 |
1 |
|
mitochondrial complex IV deficiency nuclear type 19 |
2 |
|
mitochondrial complex IV deficiency nuclear type 2 |
5 |
|
mitochondrial complex IV deficiency nuclear type 20 |
1 |
|
mitochondrial complex IV deficiency nuclear type 21 |
1 |
|
mitochondrial complex IV deficiency nuclear type 22 |
1 |
|
mitochondrial complex IV deficiency nuclear type 23 |
1 |
|
mitochondrial complex IV deficiency nuclear type 3 |
1 |
|
mitochondrial complex IV deficiency nuclear type 4 |
1 |
|
mitochondrial complex IV deficiency nuclear type 6 |
1 |
|
mitochondrial complex IV deficiency nuclear type 7 |
1 |
|
mitochondrial complex IV deficiency nuclear type 8 |
1 |
|
mitochondrial complex IV deficiency nuclear type 9 |
1 |
|
mitochondrial complex V (ATP synthase) deficiency nuclear type 4B |
1 |
|
mitochondrial complex V (ATP synthase) deficiency nuclear type 5 |
1 |
|
mitochondrial complex V (ATP synthase) deficiency nuclear type 7 |
1 |
|
mitochondrial pyruvate carrier deficiency |
1 |
|
mitochondrial trifunctional protein deficiency + |
3 |
|
mosaic variegated aneuploidy syndrome 1 |
4 |
|
mosaic variegated aneuploidy syndrome 2 |
2 |
|
mosaic variegated aneuploidy syndrome 3 |
1 |
|
mucolipidosis III alpha/beta + |
1 |
|
mucolipidosis III gamma |
2 |
|
mucopolysaccharidosis IVA |
6 |
|
mucopolysaccharidosis Ih |
3 |
|
mucopolysaccharidosis Ih/s |
2 |
|
mucopolysaccharidosis type IIIA |
7 |
|
mucopolysaccharidosis type IIIB |
5 |
|
mucopolysaccharidosis type IIIC |
4 |
|
mucopolysaccharidosis type IIID |
2 |
|
mucopolysaccharidosis type IVB |
2 |
|
mucosulfatidosis |
3 |
|
mulibrey nanism |
8 |
|
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly |
1 |
|
multiple congenital anomalies-hypotonia-seizures syndrome 1 |
17 |
|
multiple congenital anomalies-hypotonia-seizures syndrome 3 |
1 |
|
multiple congenital anomalies-hypotonia-seizures syndrome 4 |
1 |
|
multiple epiphyseal dysplasia 4 |
1 |
|
multiple epiphyseal dysplasia 7 |
1 |
|
multiple intestinal atresia |
4 |
|
multiple mitochondrial dysfunctions syndrome 1 |
1 |
|
multiple mitochondrial dysfunctions syndrome 2 |
2 |
|
multiple mitochondrial dysfunctions syndrome 3 |
8 |
|
multiple mitochondrial dysfunctions syndrome 4 |
1 |
|
multiple mitochondrial dysfunctions syndrome 5 |
0 |
|
multiple mitochondrial dysfunctions syndrome 6 |
1 |
|
muscular dystrophy-dystroglycanopathy type B1 |
6 |
|
muscular dystrophy-dystroglycanopathy type B15 |
1 |
|
muscular dystrophy-dystroglycanopathy type B2 |
1 |
|
muscular dystrophy-dystroglycanopathy type B3 |
2 |
|
muscular dystrophy-dystroglycanopathy type B4 |
1 |
|
muscular dystrophy-dystroglycanopathy type B5 |
1 |
|
muscular dystrophy-dystroglycanopathy type B6 |
12 |
|
myofibrillar myopathy 10 |
1 |
|
myofibrillar myopathy 7 |
2 |
|
myofibrillar myopathy 8 |
1 |
|
myopathy with extrapyramidal signs |
1 |
|
nemaline myopathy 1 |
2 |
|
nemaline myopathy 10 |
1 |
|
nemaline myopathy 11 |
1 |
|
nemaline myopathy 2 |
6 |
|
nemaline myopathy 3 |
1 |
|
nemaline myopathy 5A |
8 |
|
nemaline myopathy 5B |
1 |
|
nemaline myopathy 7 |
1 |
|
nemaline myopathy 8 |
1 |
|
nemaline myopathy 9 |
1 |
|
neonatal diabetes mellitus with congenital hypothyroidism |
1 |
|
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome |
1 |
|
neonatal-onset type II citrullinemia |
1 |
|
nephrogenic diabetes insipidus type 2 |
1 |
|
nephronophthisis + |
115 |
|
nephrotic syndrome type 1 |
12 |
|
nephrotic syndrome type 10 |
1 |
|
nephrotic syndrome type 11 |
1 |
|
nephrotic syndrome type 12 |
1 |
|
nephrotic syndrome type 13 |
1 |
|
nephrotic syndrome type 14 |
1 |
|
nephrotic syndrome type 15 |
1 |
|
nephrotic syndrome type 16 |
1 |
|
nephrotic syndrome type 17 |
2 |
|
nephrotic syndrome type 18 |
1 |
|
nephrotic syndrome type 19 |
1 |
|
nephrotic syndrome type 2 |
20 |
|
nephrotic syndrome type 21 |
2 |
|
nephrotic syndrome type 22 |
1 |
|
nephrotic syndrome type 23 |
1 |
|
nephrotic syndrome type 3 |
2 |
|
nephrotic syndrome type 5 |
2 |
|
nephrotic syndrome type 6 |
1 |
|
nephrotic syndrome type 7 |
1 |
|
nephrotic syndrome type 8 |
1 |
|
nephrotic syndrome type 9 |
1 |
|
neurodegeneration with brain iron accumulation 2A |
53 |
|
neurodegeneration with brain iron accumulation 2B |
1 |
|
neurodegeneration with brain iron accumulation 4 |
1 |
|
neurodegeneration with brain iron accumulation 6 |
1 |
|
neurodevelopmental disorder with midbrain and hindbrain malformations |
1 |
|
neuronal ceroid lipofuscinosis 1 |
12 |
|
neuronal ceroid lipofuscinosis 10 |
1 |
|
neuronal ceroid lipofuscinosis 11 |
1 |
|
neuronal ceroid lipofuscinosis 13 |
1 |
|
neuronal ceroid lipofuscinosis 2 |
2 |
|
neuronal ceroid lipofuscinosis 3 |
4 |
|
neuronal ceroid lipofuscinosis 5 |
1 |
|
neuronal ceroid lipofuscinosis 6A |
7 |
|
neuronal ceroid lipofuscinosis 6B |
1 |
|
neuronal ceroid lipofuscinosis 7 |
7 |
|
neuronal ceroid lipofuscinosis 8 |
1 |
|
neuronal ceroid lipofuscinosis 8 northern epilepsy variant |
1 |
|
neuronal ceroid lipofuscinosis 9 |
0 |
|
nonphotosensitive trichothiodystrophy + |
7 |
|
nonphotosensitive trichothiodystrophy 4 |
1 |
|
nonphotosensitive trichothiodystrophy 6 |
1 |
|
nonphotosensitive trichothiodystrophy 7 |
1 |
|
nonsyndromic congenital nail disorder 3 |
1 |
|
nonsyndromic congenital nail disorder 4 |
4 |
|
nonsyndromic congenital nail disorder 9 |
0 |
|
nuclear type mitochondrial complex I deficiency 1 |
27 |
|
nuclear type mitochondrial complex I deficiency 10 |
2 |
|
nuclear type mitochondrial complex I deficiency 11 |
1 |
|
nuclear type mitochondrial complex I deficiency 13 |
2 |
|
nuclear type mitochondrial complex I deficiency 14 |
1 |
|
nuclear type mitochondrial complex I deficiency 15 |
1 |
|
nuclear type mitochondrial complex I deficiency 16 |
1 |
|
nuclear type mitochondrial complex I deficiency 17 |
1 |
|
nuclear type mitochondrial complex I deficiency 18 |
1 |
|
nuclear type mitochondrial complex I deficiency 19 |
1 |
|
nuclear type mitochondrial complex I deficiency 2 |
1 |
|
nuclear type mitochondrial complex I deficiency 20 |
7 |
|
nuclear type mitochondrial complex I deficiency 21 |
1 |
|
nuclear type mitochondrial complex I deficiency 22 |
1 |
|
nuclear type mitochondrial complex I deficiency 23 |
1 |
|
nuclear type mitochondrial complex I deficiency 24 |
2 |
|
nuclear type mitochondrial complex I deficiency 25 |
1 |
|
nuclear type mitochondrial complex I deficiency 26 |
1 |
|
nuclear type mitochondrial complex I deficiency 27 |
1 |
|
nuclear type mitochondrial complex I deficiency 28 |
1 |
|
nuclear type mitochondrial complex I deficiency 29 |
1 |
|
nuclear type mitochondrial complex I deficiency 3 |
1 |
|
nuclear type mitochondrial complex I deficiency 31 |
1 |
|
nuclear type mitochondrial complex I deficiency 32 |
1 |
|
nuclear type mitochondrial complex I deficiency 33 |
1 |
|
nuclear type mitochondrial complex I deficiency 34 |
1 |
|
nuclear type mitochondrial complex I deficiency 35 |
2 |
|
nuclear type mitochondrial complex I deficiency 4 |
1 |
|
nuclear type mitochondrial complex I deficiency 5 |
1 |
|
nuclear type mitochondrial complex I deficiency 6 |
1 |
|
nuclear type mitochondrial complex I deficiency 7 |
1 |
|
nuclear type mitochondrial complex I deficiency 8 |
1 |
|
nuclear type mitochondrial complex I deficiency 9 |
2 |
|
oculocutaneous albinism + |
80 |
|
omodysplasia 1 |
1 |
|
optic atrophy 11 |
1 |
|
optic atrophy 6 |
0 |
|
optic atrophy 7 |
1 |
|
optic atrophy 9 |
4 |
|
optic disc anomalies with retinal and/or macular dystrophy |
2 |
|
orofacial cleft 14 |
0 |
|
orofacial cleft 7 + |
1 |
|
orofaciodigital syndrome III |
3 |
|
orofaciodigital syndrome IV |
2 |
|
orofaciodigital syndrome IX |
1 |
|
orofaciodigital syndrome V |
1 |
|
orofaciodigital syndrome XVI |
1 |
|
orofaciodigital syndrome XVII |
1 |
|
osteogenesis imperfecta type 10 |
1 |
|
osteogenesis imperfecta type 11 |
1 |
|
osteogenesis imperfecta type 12 |
2 |
|
osteogenesis imperfecta type 13 |
2 |
|
osteogenesis imperfecta type 15 |
2 |
|
osteogenesis imperfecta type 17 |
1 |
|
osteogenesis imperfecta type 18 |
1 |
|
osteogenesis imperfecta type 20 |
1 |
|
osteogenesis imperfecta type 21 |
1 |
|
osteogenesis imperfecta type 7 |
3 |
|
osteogenesis imperfecta type 8 |
1 |
|
osteogenesis imperfecta type 9 |
2 |
|
osteoporosis-pseudoglioma syndrome |
1 |
|
osteosclerotic metaphyseal dysplasia |
1 |
|
otospondylomegaepiphyseal dysplasia, autosomal recessive |
2 |
|
otulipenia |
1 |
|
ovarian dysgenesis 1 |
1 |
|
ovarian dysgenesis 3 |
3 |
|
ovarian dysgenesis 4 |
1 |
|
ovarian dysgenesis 5 |
1 |
|
ovarian dysgenesis 6 |
1 |
|
ovarian dysgenesis 7 |
1 |
|
oxoglutarate dehydrogenase deficiency |
2 |
|
pantothenate kinase-associated neurodegeneration |
63 |
|
peeling skin syndrome + |
10 |
|
pentosuria |
1 |
|
permanent neonatal diabetes mellitus + |
7 |
|
peroxisomal acyl-CoA oxidase deficiency |
2 |
|
peroxisome biogenesis disorder 14B |
1 |
|
peroxisome biogenesis disorder 1B |
2 |
|
peroxisome biogenesis disorder 2B |
64 |
|
peroxisome biogenesis disorder 3B |
2 |
|
photosensitive trichothiodystrophy 1 |
2 |
|
photosensitive trichothiodystrophy 2 |
1 |
|
photosensitive trichothiodystrophy 3 |
1 |
|
plasminogen deficiency type I |
1 |
|
platelet-type bleeding disorder 10 |
2 |
|
platelet-type bleeding disorder 11 |
1 |
|
platelet-type bleeding disorder 18 |
1 |
|
platelet-type bleeding disorder 19 |
0 |
|
platelet-type bleeding disorder 8 |
2 |
|
poikiloderma with neutropenia |
1 |
|
polyhydramnios, megalencephaly, and symptomatic epilepsy |
1 |
|
pontocerebellar hypoplasia type 11 |
1 |
|
pontocerebellar hypoplasia type 12 |
1 |
|
pontocerebellar hypoplasia type 13 |
1 |
|
pontocerebellar hypoplasia type 14 |
1 |
|
pontocerebellar hypoplasia type 15 |
1 |
|
pontocerebellar hypoplasia type 16 |
1 |
|
pontocerebellar hypoplasia type 1A |
2 |
|
pontocerebellar hypoplasia type 1B |
14 |
|
pontocerebellar hypoplasia type 1C |
1 |
|
pontocerebellar hypoplasia type 1D |
1 |
|
pontocerebellar hypoplasia type 1E |
1 |
|
pontocerebellar hypoplasia type 1F |
1 |
|
pontocerebellar hypoplasia type 2A |
1 |
|
pontocerebellar hypoplasia type 2B |
1 |
|
pontocerebellar hypoplasia type 2C |
1 |
|
pontocerebellar hypoplasia type 2D |
2 |
|
pontocerebellar hypoplasia type 2E |
1 |
|
pontocerebellar hypoplasia type 2F |
1 |
|
postaxial acrofacial dysostosis |
1 |
|
primary autosomal recessive microcephaly + |
34 |
|
primary ciliary dyskinesia 38 |
1 |
|
primary ciliary dyskinesia 39 |
1 |
|
primary ciliary dyskinesia 40 |
1 |
|
primary ciliary dyskinesia 41 |
1 |
|
primary ciliary dyskinesia 42 |
1 |
|
primary ciliary dyskinesia 44 |
1 |
|
primary ciliary dyskinesia 45 |
1 |
|
primary coenzyme Q10 deficiency 9 |
1 |
|
primary ovarian insufficiency 10 |
1 |
|
primary ovarian insufficiency 12 |
1 |
|
primary ovarian insufficiency 13 |
1 |
|
primary ovarian insufficiency 14 |
1 |
|
primary ovarian insufficiency 15 |
1 |
|
primary ovarian insufficiency 18 |
1 |
|
primary ovarian insufficiency 19 |
1 |
|
primary ovarian insufficiency 8 |
1 |
|
primary ovarian insufficiency 9 |
1 |
|
progressive familial intrahepatic cholestasis 1 |
4 |
|
progressive familial intrahepatic cholestasis 2 |
2 |
|
progressive familial intrahepatic cholestasis 3 |
2 |
|
progressive familial intrahepatic cholestasis 4 |
2 |
|
progressive familial intrahepatic cholestasis 5 |
1 |
|
progressive leukoencephalopathy with ovarian failure |
2 |
|
progressive myoclonus epilepsy 10 |
2 |
|
progressive myoclonus epilepsy 1A |
1 |
|
progressive myoclonus epilepsy 1B |
2 |
|
progressive myoclonus epilepsy 3 |
2 |
|
progressive myoclonus epilepsy 4 |
3 |
|
progressive myoclonus epilepsy 6 |
1 |
|
progressive myoclonus epilepsy 8 |
15 |
|
progressive myoclonus epilepsy 9 |
35 |
|
progressive pseudorheumatoid arthropathy of childhood |
1 |
|
prolidase deficiency |
1 |
|
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome |
1 |
|
proprotein convertase 1/3 deficiency |
2 |
|
proteasome-associated autoinflammatory syndrome 1 |
159 |
|
proteosome-associated autoinflammatory syndrome 3 |
2 |
|
proteosome-associated autoinflammatory syndrome 4 |
1 |
|
proteosome-associated autoinflammatory syndrome 5 |
1 |
|
prothrombin deficiency + |
2 |
|
prune belly syndrome + |
3 |
|
pseudo-TORCH syndrome 1 |
1 |
|
pseudoxanthoma elasticum + |
15 |
|
pulmonary venoocclusive disease 2 |
2 |
|
purine nucleoside phosphorylase deficiency |
28 |
|
pycnodysostosis |
2 |
|
pyridoxine-dependent epilepsy + |
8 |
|
pyruvate kinase deficiency of red cells |
2 |
|
rapadilino syndrome |
1 |
|
recessive dystrophic epidermolysis bullosa |
3 |
|
restrictive dermopathy 1 |
1 |
|
reticular dysgenesis |
1 |
|
retinal cone dystrophy 3B |
1 |
|
retinal dystrophy with leukodystrophy |
1 |
|
retinitis pigmentosa 1 |
2 |
|
retinitis pigmentosa 12 |
6 |
|
retinitis pigmentosa 14 |
3 |
|
retinitis pigmentosa 19 |
1 |
|
retinitis pigmentosa 20 |
1 |
|
retinitis pigmentosa 25 |
2 |
|
retinitis pigmentosa 26 |
2 |
|
retinitis pigmentosa 28 |
1 |
|
retinitis pigmentosa 29 |
0 |
|
retinitis pigmentosa 35 |
1 |
|
retinitis pigmentosa 37 |
1 |
|
retinitis pigmentosa 38 |
1 |
|
retinitis pigmentosa 4 |
1 |
|
retinitis pigmentosa 40 |
4 |
|
retinitis pigmentosa 41 |
1 |
|
retinitis pigmentosa 45 |
1 |
|
retinitis pigmentosa 50 |
2 |
|
retinitis pigmentosa 56 |
1 |
|
retinitis pigmentosa 57 |
1 |
|
retinitis pigmentosa 59 |
35 |
|
retinitis pigmentosa 62 |
1 |
|
retinitis pigmentosa 68 |
1 |
|
retinitis pigmentosa 69 |
1 |
|
retinitis pigmentosa 7 |
2 |
|
retinitis pigmentosa 71 |
2 |
|
retinitis pigmentosa 72 |
1 |
|
retinitis pigmentosa 73 |
1 |
|
retinitis pigmentosa 74 |
2 |
|
retinitis pigmentosa 75 |
1 |
|
retinitis pigmentosa 77 |
1 |
|
retinitis pigmentosa 81 |
1 |
|
retinitis pigmentosa 84 |
1 |
|
retinitis pigmentosa 85 |
1 |
|
retinitis pigmentosa 88 |
1 |
|
retinitis pigmentosa 90 |
1 |
|
retinitis pigmentosa with or without situs inversus |
1 |
|
rhizomelic chondrodysplasia punctata + |
5 |
|
right atrial isomerism |
5 |
|
rigid spine muscular dystrophy 1 |
5 |
|
salt and pepper syndrome |
6 |
|
sarcosinemia |
1 |
|
sclerosteosis 1 |
1 |
|
sclerosteosis 2 |
1 |
|
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
6 |
|
sepiapterin reductase deficiency |
1 |
|
severe combined immunodeficiency with sensitivity to ionizing radiation |
4 |
|
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive |
11 |
|
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive + |
7 |
|
severe congenital neutropenia 3 |
188 |
|
severe congenital neutropenia 4 + |
1 |
|
severe congenital neutropenia 5 |
188 |
|
severe congenital neutropenia 6 |
11 |
|
severe congenital neutropenia 7 |
1 |
|
short stature, hearing loss, retinitis pigmentosa, and distinctive facies |
1 |
|
short-rib thoracic dysplasia 10 with or without polydactyly |
5 |
|
short-rib thoracic dysplasia 11 with or without polydactyly |
2 |
|
short-rib thoracic dysplasia 13 with or without polydactyly |
1 |
|
short-rib thoracic dysplasia 14 with polydactyly |
1 |
|
short-rib thoracic dysplasia 18 with polydactyly |
1 |
|
short-rib thoracic dysplasia 19 with or without polydactyly |
1 |
|
short-rib thoracic dysplasia 6 with or without polydactyly |
16 |
|
short-rib thoracic dysplasia 7 with or without polydactyly |
2 |
|
short-rib thoracic dysplasia 8 with or without polydactyly |
1 |
|
short-rib thoracic dysplasia 9 with or without polydactyly |
162 |
|
sickle cell anemia + |
41 |
|
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay |
1 |
|
sitosterolemia + |
4 |
|
spastic ataxia 2 |
11 |
|
spastic ataxia 3 |
2 |
|
spastic ataxia 4 |
1 |
|
spastic ataxia 5 |
2 |
|
spastic ataxia 8 |
1 |
|
spastic quadriplegic cerebral palsy 3 |
1 |
|
spermatogenic failure 13 |
1 |
|
spermatogenic failure 14 |
1 |
|
spermatogenic failure 15 |
1 |
|
spermatogenic failure 16 |
1 |
|
spermatogenic failure 17 |
2 |
|
spermatogenic failure 18 |
4 |
|
spermatogenic failure 19 |
1 |
|
spermatogenic failure 20 |
2 |
|
spermatogenic failure 21 |
1 |
|
spermatogenic failure 22 |
2 |
|
spermatogenic failure 23 |
1 |
|
spermatogenic failure 24 |
1 |
|
spermatogenic failure 25 |
1 |
|
spermatogenic failure 26 |
1 |
|
spermatogenic failure 27 |
1 |
|
spermatogenic failure 28 |
1 |
|
spermatogenic failure 29 |
1 |
|
spermatogenic failure 30 |
1 |
|
spermatogenic failure 31 |
2 |
|
spermatogenic failure 33 |
2 |
|
spermatogenic failure 34 |
1 |
|
spermatogenic failure 35 |
1 |
|
spermatogenic failure 37 |
1 |
|
spermatogenic failure 38 |
2 |
|
spermatogenic failure 39 |
1 |
|
spermatogenic failure 40 |
1 |
|
spermatogenic failure 41 |
1 |
|
spermatogenic failure 42 |
1 |
|
spermatogenic failure 43 |
1 |
|
spermatogenic failure 44 |
1 |
|
spermatogenic failure 45 |
1 |
|
spermatogenic failure 46 |
1 |
|
spermatogenic failure 47 |
1 |
|
spermatogenic failure 48 |
1 |
|
spermatogenic failure 49 |
1 |
|
spermatogenic failure 5 |
1 |
|
spermatogenic failure 50 |
1 |
|
spermatogenic failure 51 |
1 |
|
spermatogenic failure 52 |
1 |
|
spermatogenic failure 53 |
1 |
|
spermatogenic failure 54 |
1 |
|
spermatogenic failure 55 |
1 |
|
spermatogenic failure 56 |
1 |
|
spermatogenic failure 57 |
2 |
|
spermatogenic failure 58 |
1 |
|
spermatogenic failure 59 |
1 |
|
spermatogenic failure 6 |
1 |
|
spermatogenic failure 60 |
1 |
|
spermatogenic failure 61 |
1 |
|
spermatogenic failure 62 |
1 |
|
spermatogenic failure 63 |
1 |
|
spermatogenic failure 64 |
1 |
|
spermatogenic failure 65 |
1 |
|
spermatogenic failure 7 |
3 |
|
spermatogenic failure 9 |
1 |
|
spinal muscular atrophy with progressive myoclonic epilepsy |
1 |
|
split hand-foot malformation 1 with sensorineural hearing loss |
1 |
|
split hand-foot malformation 6 |
1 |
|
spondylocarpotarsal synostosis syndrome |
2 |
|
spondyloepimetaphyseal dysplasia with joint laxity type 1 |
3 |
|
spondyloepimetaphyseal dysplasia with joint laxity type 3 |
1 |
|
spondyloepimetaphyseal dysplasia, Genevieve-type |
2 |
|
spondyloepimetaphyseal dysplasia, Pakistani type |
1 |
|
spondyloepimetaphyseal dysplasia, Sponastrime type |
1 |
|
spondyloepiphyseal dysplasia Kondo-Fu type |
1 |
|
spondyloepiphyseal dysplasia tarda with characteristic facies |
0 |
|
spondyloepiphyseal dysplasia tarda with intellectual disability |
0 |
|
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis |
1 |
|
spondylometaepiphyseal dysplasia, short limb-hand type |
1 |
|
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type |
1 |
|
spondylometaphyseal dysplasia Sedaghatian type |
1 |
|
spondylometaphyseal dysplasia with cone-rod dystrophy |
1 |
|
spondylometaphyseal dysplasia with corneal dystrophy |
1 |
|
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures |
1 |
|
syndromic microphthalmia 9 |
5 |
|
temtamy preaxial brachydactyly syndrome |
1 |
|
tetraamelia syndrome 1 |
1 |
|
tetraamelia syndrome 2 |
1 |
|
thalassemia + |
196 |
|
thiamine-responsive megaloblastic anemia syndrome |
1 |
|
thrombocytopenia-absent radius syndrome |
26 |
|
thyroid dyshormonogenesis 1 |
1 |
|
thyroid dyshormonogenesis 2A |
1 |
|
thyroid dyshormonogenesis 3 |
2 |
|
thyroid dyshormonogenesis 4 |
1 |
|
thyroid dyshormonogenesis 5 |
1 |
|
thyroid dyshormonogenesis 6 |
1 |
|
torsion dystonia 17 |
0 |
|
torsion dystonia 2 |
1 |
|
transient bullous dermolysis of the newborn |
1 |
|
transient infantile liver failure |
4 |
|
trichohepatoenteric syndrome + |
4 |
|
trimethylaminuria |
1 |
|
triple-A syndrome |
2 |
|
urocanase deficiency |
1 |
|
urofacial syndrome + |
2 |
|
ventriculomegaly - cystic kidney disease |
1 |
|
visual impairment and progressive phthisis bulbi |
1 |
|
vitamin D-dependent rickets type 1A |
4 |
|
vitamin D-dependent rickets type 1B |
1 |
|
vitamin D-dependent rickets type 2A |
2 |
|
wrinkly skin syndrome |
1 |
|
xanthinuria + |
3 |
|
xeroderma pigmentosum + |
19 |
|