Path 1 |
disease |
21128 |
|
Developmental Disease |
18449 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
18309 |
|
genetic disease |
18253 |
|
monogenic disease |
10363 |
|
autosomal genetic disease |
9517 |
|
autosomal dominant disease |
6235 |
|
3-methylglutaconic aciduria type 7a |
1 |
|
3p deletion syndrome |
39 |
|
46,XX sex reversal 2 |
1 |
|
46,XX sex reversal 4 |
1 |
|
46,XX sex reversal 5 |
1 |
|
46,XY sex reversal 10 |
1 |
|
46,XY sex reversal 3 |
3 |
|
46,XY sex reversal 6 |
1 |
|
46,XY sex reversal 9 |
1 |
|
ADULT syndrome |
1 |
|
APP-related cerebral amyloid angiopathy |
1 |
|
Alexander disease |
1 |
|
Alzheimer's disease 1 |
5 |
|
Alzheimer's disease 2 |
1 |
|
Alzheimer's disease 3 + |
4 |
|
Alzheimer's disease 4 |
3 |
|
Alzheimer's disease 5 |
0 |
|
Alzheimer's disease 9 |
2 |
|
Andersen-Tawil syndrome |
2 |
|
Annular Epidermolytic Ichthyosis + |
2 |
|
Antley-Bixler syndrome without disordered steroidogenesis |
2 |
|
Autosomal Dominant Dyskeratosis Congenita + |
158 |
|
Axenfeld-Rieger syndrome + |
36 |
|
Ayme-Gripp syndrome |
1 |
|
Bainbridge-Ropers syndrome |
1 |
|
Baraitser-Winter syndrome 1 |
2 |
|
Baraitser-Winter syndrome 2 |
1 |
|
Bart-Pumphrey syndrome |
1 |
|
Beare-Stevenson cutis gyrata syndrome |
1 |
|
Beukes hip dysplasia |
2 |
|
Birk-Barel syndrome |
2 |
|
Birt-Hogg-Dube syndrome |
23 |
|
Blau syndrome |
1 |
|
Bosch-Boonstra-Schaaf optic atrophy syndrome |
4 |
|
Bothnian type palmoplantar keratoderma |
1 |
|
Brooke-Spiegler syndrome |
1 |
|
Brugada syndrome 1 |
8 |
|
Brugada syndrome 7 |
1 |
|
Brugada syndrome 9 |
2 |
|
Buschke-Ollendorff syndrome |
2 |
|
C syndrome |
1 |
|
CADASIL 1 |
1 |
|
CADASIL2 |
2 |
|
CINCA syndrome |
1 |
|
CST3-related cerebral amyloid angiopathy + |
3 |
|
Carney complex + |
3 |
|
Carney-Stratakis syndrome |
24 |
|
Charcot-Marie-Tooth disease axonal type 2C |
3 |
|
Charcot-Marie-Tooth disease axonal type 2CC |
1 |
|
Charcot-Marie-Tooth disease axonal type 2F |
1 |
|
Charcot-Marie-Tooth disease axonal type 2K |
7 |
|
Charcot-Marie-Tooth disease axonal type 2L |
1 |
|
Charcot-Marie-Tooth disease axonal type 2N |
2 |
|
Charcot-Marie-Tooth disease axonal type 2O |
48 |
|
Charcot-Marie-Tooth disease axonal type 2P |
1 |
|
Charcot-Marie-Tooth disease axonal type 2Q |
1 |
|
Charcot-Marie-Tooth disease axonal type 2T |
2 |
|
Charcot-Marie-Tooth disease axonal type 2U |
7 |
|
Charcot-Marie-Tooth disease axonal type 2V |
1 |
|
Charcot-Marie-Tooth disease axonal type 2Z |
1 |
|
Charcot-Marie-Tooth disease dominant intermediate A |
1 |
|
Charcot-Marie-Tooth disease dominant intermediate B + |
67 |
|
Charcot-Marie-Tooth disease dominant intermediate C |
177 |
|
Charcot-Marie-Tooth disease dominant intermediate D |
2 |
|
Charcot-Marie-Tooth disease dominant intermediate E |
1 |
|
Charcot-Marie-Tooth disease dominant intermediate F |
1 |
|
Charcot-Marie-Tooth disease dominant intermediate G |
1 |
|
Charcot-Marie-Tooth disease type 1A |
8 |
|
Charcot-Marie-Tooth disease type 1B |
3 |
|
Charcot-Marie-Tooth disease type 1C |
23 |
|
Charcot-Marie-Tooth disease type 1D |
1 |
|
Charcot-Marie-Tooth disease type 1E |
2 |
|
Charcot-Marie-Tooth disease type 1F |
1 |
|
Charcot-Marie-Tooth disease type 1G |
1 |
|
Charcot-Marie-Tooth disease type 2A1 |
2 |
|
Charcot-Marie-Tooth disease type 2A2A |
2 |
|
Charcot-Marie-Tooth disease type 2B |
3 |
|
Charcot-Marie-Tooth disease type 2D |
1 |
|
Charcot-Marie-Tooth disease type 2DD |
1 |
|
Charcot-Marie-Tooth disease type 2E |
7 |
|
Charcot-Marie-Tooth disease type 2I |
2 |
|
Charcot-Marie-Tooth disease type 2J |
1 |
|
Charcot-Marie-Tooth disease type 2Y |
1 |
|
Charcot-Marie-Tooth disease type 3 |
11 |
|
Charcot-Marie-Tooth disease type 4E |
3 |
|
Charcot-Marie-Tooth disease type 5 |
1 |
|
Charcot-Marie-Tooth disease, axonal type 2W |
1 |
|
Clouston syndrome |
10 |
|
Cornelia de Lange syndrome 1 |
9 |
|
Cornelia de Lange syndrome 3 |
10 |
|
Cornelia de Lange syndrome 4 |
3 |
|
Costello syndrome |
9 |
|
Crouzon syndrome-acanthosis nigricans syndrome |
1 |
|
Culler-Jones syndrome |
1 |
|
Currarino syndrome |
58 |
|
D-2-hydroxyglutaric aciduria 2 |
36 |
|
DICER1 syndrome |
24 |
|
DeSanto-Shinawi syndrome |
1 |
|
Denys-Drash syndrome |
8 |
|
DiGeorge syndrome + |
90 |
|
Diamond-Blackfan anemia 1 |
4 |
|
Diamond-Blackfan anemia 10 |
3 |
|
Diamond-Blackfan anemia 11 |
1 |
|
Diamond-Blackfan anemia 12 |
2 |
|
Diamond-Blackfan anemia 13 |
1 |
|
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
3 |
|
Diamond-Blackfan anemia 16 |
1 |
|
Diamond-Blackfan anemia 17 |
1 |
|
Diamond-Blackfan anemia 18 |
1 |
|
Diamond-Blackfan anemia 19 |
1 |
|
Diamond-Blackfan anemia 2 |
0 |
|
Diamond-Blackfan anemia 20 |
1 |
|
Diamond-Blackfan anemia 3 |
2 |
|
Diamond-Blackfan anemia 4 |
1 |
|
Diamond-Blackfan anemia 5 |
2 |
|
Diamond-Blackfan anemia 6 |
2 |
|
Diamond-Blackfan anemia 7 |
1 |
|
Diamond-Blackfan anemia 8 |
5 |
|
Diamond-Blackfan anemia 9 |
2 |
|
Doyne honeycomb retinal dystrophy |
2 |
|
Dravet syndrome |
21 |
|
Duane-radial ray syndrome |
2 |
|
EEC syndrome + |
1 |
|
Ehlers-Danlos syndrome arthrochalasia type 1 |
4 |
|
Ehlers-Danlos syndrome arthrochalasia type 2 |
2 |
|
Ehlers-Danlos syndrome classic type 1 |
85 |
|
Ehlers-Danlos syndrome classic type 2 |
3 |
|
Ehlers-Danlos syndrome periodontal type 1 |
3 |
|
Ehlers-Danlos syndrome periodontal type 2 |
3 |
|
Fanconi anemia complementation group R |
1 |
|
Fanconi renotubular syndrome 1 |
2 |
|
Fanconi renotubular syndrome 3 |
1 |
|
Fanconi renotubular syndrome 4 |
2 |
|
Feingold syndrome + |
1 |
|
Floating-Harbor syndrome |
1 |
|
Frasier syndrome |
1 |
|
GRN-related frontotemporal lobar degeneration with TDP43 inclusions |
12 |
|
Greig cephalopolysyndactyly syndrome |
6 |
|
Guttmacher syndrome |
1 |
|
Hailey-Hailey disease |
1 |
|
Hajdu-Cheney syndrome |
11 |
|
Harel-Yoon syndrome |
2 |
|
Heinz body anemia |
4 |
|
Hereditary Diffuse Leukoencephalopathy with Spheroids 2 |
1 |
|
Holt-Oram syndrome |
3 |
|
ITM2B-related cerebral amyloid angiopathy 1 |
1 |
|
ITM2B-related cerebral amyloid angiopathy 2 |
1 |
|
IVIC syndrome |
1 |
|
Jansen's metaphyseal chondrodysplasia |
2 |
|
KINSSHIP syndrome |
1 |
|
King Denborough syndrome |
1 |
|
Kleefstra syndrome 1 |
106 |
|
Kleefstra syndrome 2 |
2 |
|
Klippel-Feil syndrome 1 |
8 |
|
Klippel-Feil syndrome 3 |
41 |
|
Kniest dysplasia |
1 |
|
Larsen syndrome |
4 |
|
Laurin-Sandrow syndrome |
1 |
|
Leber congenital amaurosis 11 |
1 |
|
Leber congenital amaurosis 13 |
16 |
|
Leber congenital amaurosis with early-onset deafness |
1 |
|
Legius syndrome |
3 |
|
Lenz-Majewski hyperostotic dwarfism |
1 |
|
Li-Fraumeni syndrome + |
72 |
|
Loeys-Dietz syndrome + |
42 |
|
Lynch syndrome + |
105 |
|
Marsili syndrome |
3 |
|
Meesmann corneal dystrophy 1 |
1 |
|
Meesmann corneal dystrophy 2 |
0 |
|
Meier-Gorlin syndrome 6 |
1 |
|
Miller-Dieker lissencephaly syndrome |
5 |
|
Mitchell syndrome |
1 |
|
Miura type epiphyseal chondrodysplasia |
2 |
|
Moebius syndrome + |
20 |
|
Mowat-Wilson syndrome |
11 |
|
Muckle-Wells syndrome |
2 |
|
Muenke syndrome |
1 |
|
Mullerian aplasia and hyperandrogenism |
1 |
|
NFIA-related disorder |
1 |
|
Naegeli-Franceschetti-Jadassohn syndrome |
1 |
|
Nicolaides-Baraitser syndrome |
4 |
|
Noonan syndrome 1 |
17 |
|
Noonan syndrome 10 |
1 |
|
Noonan syndrome 11 |
1 |
|
Noonan syndrome 12 |
1 |
|
Noonan syndrome 13 |
1 |
|
Noonan syndrome 3 |
7 |
|
Noonan syndrome 4 |
1 |
|
Noonan syndrome 5 |
2 |
|
Noonan syndrome 6 |
1 |
|
Noonan syndrome 7 |
1 |
|
Noonan syndrome 8 |
15 |
|
Noonan syndrome 9 |
2 |
|
Noonan syndrome with multiple lentigines + |
10 |
|
PAPA syndrome |
2 |
|
Paget's disease of bone 2 |
2 |
|
Paget's disease of bone 3 |
2 |
|
Paget's disease of bone 4 |
0 |
|
Paget's disease of bone 6 |
1 |
|
Pallister-Hall syndrome + |
2 |
|
Parkinson's disease 1 |
2 |
|
Parkinson's disease 17 |
3 |
|
Parkinson's disease 21 |
1 |
|
Parkinson's disease 22 |
1 |
|
Parkinson's disease 3 |
0 |
|
Parkinson's disease 4 |
1 |
|
Parkinson's disease 8 |
1 |
|
Pelger-Huet anomaly + |
2 |
|
Peroxisome biogenesis disorder 4B |
1 |
|
Perry syndrome |
1 |
|
Pfeiffer syndrome |
2 |
|
Pitt-Hopkins syndrome + |
16 |
|
Rapp-Hodgkin syndrome |
1 |
|
Romano-Ward Syndrome |
14 |
|
Rubinstein-Taybi syndrome + |
51 |
|
SADDAN |
1 |
|
SHORT syndrome |
1 |
|
STING-associated vasculopathy with onset in infancy |
30 |
|
Saethre-Chotzen syndrome |
3 |
|
Saul-Wilson syndrome |
1 |
|
Schinzel Giedion syndrome |
1 |
|
Schnyder corneal dystrophy |
1 |
|
Schopf-Schulz-Passarge syndrome |
1 |
|
Sorsby's fundus dystrophy |
2 |
|
Sotos syndrome 1 |
2 |
|
Sotos syndrome 2 |
1 |
|
Stickler syndrome 1 |
1 |
|
Stickler syndrome 2 |
1 |
|
Stormorken syndrome |
3 |
|
Sweeney-Cox syndrome |
1 |
|
Tatton-Brown-Rahman syndrome |
67 |
|
Teebi hypertelorism syndrome 1 |
2 |
|
Thiel-Behnke corneal dystrophy |
2 |
|
Thomsen disease |
2 |
|
Tietz syndrome |
1 |
|
Timothy syndrome |
1 |
|
Townes-Brocks syndrome + |
2 |
|
Treacher Collins syndrome + |
4 |
|
Ullrich congenital muscular dystrophy + |
5 |
|
Vissers-Bodmer syndrome |
1 |
|
Vohwinkel syndrome |
1 |
|
WEISS-KRUSZKA SYNDROME |
1 |
|
WHIM syndrome 1 |
9 |
|
Waardenburg syndrome + |
15 |
|
Watson syndrome |
1 |
|
Weaver syndrome |
5 |
|
Weyers acrofacial dysostosis |
2 |
|
Williams-Beuren syndrome + |
32 |
|
Worth syndrome |
1 |
|
abdominal obesity-metabolic syndrome + |
71 |
|
ablepharon macrostomia syndrome |
1 |
|
achondrogenesis type II |
1 |
|
acrofacial dysostosis Cincinnati type |
1 |
|
acrokeratosis verruciformis |
1 |
|
acromelic frontonasal dysostosis |
1 |
|
adermatoglyphia |
1 |
|
adult-onset autosomal dominant demyelinating leukodystrophy |
4 |
|
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia |
2 |
|
advanced sleep phase syndrome + |
9 |
|
agammaglobulinemia 10 |
1 |
|
agammaglobulinemia 5 |
1 |
|
agammaglobulinemia 8A |
1 |
|
age related macular degeneration + |
43 |
|
amelogenesis imperfecta type 1A |
2 |
|
amelogenesis imperfecta type 1B |
2 |
|
amelogenesis imperfecta type 3A |
1 |
|
amelogenesis imperfecta type 3B |
1 |
|
amelogenesis imperfecta type 4 |
1 |
|
amyotrophic lateral sclerosis type 1 |
112 |
|
amyotrophic lateral sclerosis type 24 |
1 |
|
amyotrophic lateral sclerosis type 25 |
1 |
|
amyotrophic lateral sclerosis type 26 |
1 |
|
amyotrophic lateral sclerosis type 28 |
1 |
|
amyotrophic neuralgia |
1 |
|
aniridia 1 |
7 |
|
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome |
1 |
|
ankylosing spondylitis 2 |
0 |
|
ankyrin-B-related cardiac arrhythmia |
1 |
|
anterior segment dysgenesis 1 |
4 |
|
antithrombin III deficiency |
22 |
|
aortic valve disease 1 |
7 |
|
aortic valve disease 2 |
7 |
|
aortic valve disease 3 |
1 |
|
aplasia of lacrimal and salivary glands |
1 |
|
apolipoprotein C-III deficiency + |
3 |
|
arrhythmogenic right ventricular dysplasia 1 |
9 |
|
arrhythmogenic right ventricular dysplasia 10 |
3 |
|
arrhythmogenic right ventricular dysplasia 12 |
1 |
|
arrhythmogenic right ventricular dysplasia 13 |
2 |
|
arrhythmogenic right ventricular dysplasia 14 |
1 |
|
arrhythmogenic right ventricular dysplasia 3 |
0 |
|
arrhythmogenic right ventricular dysplasia 4 |
0 |
|
arrhythmogenic right ventricular dysplasia 5 |
2 |
|
arrhythmogenic right ventricular dysplasia 8 |
4 |
|
arrhythmogenic right ventricular dysplasia 9 |
14 |
|
atrial heart septal defect 2 + |
1 |
|
atrial heart septal defect 5 |
1 |
|
atrial heart septal defect 6 |
1 |
|
atrial heart septal defect 7 |
9 |
|
atrial heart septal defect 8 |
2 |
|
atrial heart septal defect 9 |
1 |
|
atrial standstill 1 |
3 |
|
autoimmune interstitial lung, joint, and kidney disease |
86 |
|
autoimmune lymphoproliferative syndrome type 2A |
0 |
|
autoimmune lymphoproliferative syndrome type 4 |
2 |
|
autosomal dominant Aarskog syndrome |
0 |
|
autosomal dominant Alport syndrome |
4 |
|
autosomal dominant Emery-Dreifuss muscular dystrophy 4 |
2 |
|
autosomal dominant Emery-Dreifuss muscular dystrophy 5 |
1 |
|
autosomal dominant Emery-Dreifuss muscular dystrophy 7 |
1 |
|
autosomal dominant Robinow syndrome 1 |
5 |
|
autosomal dominant Robinow syndrome 2 |
4 |
|
autosomal dominant Robinow syndrome 3 |
2 |
|
autosomal dominant Wolfram syndrome |
2 |
|
autosomal dominant beta thalassemia |
1 |
|
autosomal dominant centronuclear myopathy + |
10 |
|
autosomal dominant cerebellar ataxia + |
87 |
|
autosomal dominant chondrodysplasia punctata + |
0 |
|
autosomal dominant congenital deafness with onychodystrophy |
1 |
|
autosomal dominant craniodiaphyseal dysplasia |
1 |
|
autosomal dominant craniometaphyseal dysplasia |
2 |
|
autosomal dominant cutis laxa + |
3 |
|
autosomal dominant distal hereditary motor neuronopathy + |
34 |
|
autosomal dominant dystrophic epidermolysis bullosa + |
3 |
|
autosomal dominant familial periodic fever |
2 |
|
autosomal dominant familial visceral neuropathy |
5 |
|
autosomal dominant hyaline body myopathy |
2 |
|
autosomal dominant hypocalcemia + |
8 |
|
autosomal dominant hypophosphatemic rickets |
2 |
|
autosomal dominant intellectual developmental disorder + |
447 |
|
autosomal dominant isolated ectopia lentis 1 |
2 |
|
autosomal dominant keratitis + |
3 |
|
autosomal dominant limb-girdle muscular dystrophy + |
14 |
|
autosomal dominant macrothrombocytopenia TUBB1-related |
1 |
|
autosomal dominant microcephaly + |
1 |
|
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques |
2 |
|
autosomal dominant nocturnal frontal lobe epilepsy + |
106 |
|
autosomal dominant nonsyndromic deafness + |
79 |
|
autosomal dominant osteopetrosis 1 |
2 |
|
autosomal dominant osteopetrosis 2 |
1 |
|
autosomal dominant polycystic kidney disease + |
70 |
|
autosomal dominant progressive external ophthalmoplegia 1 |
3 |
|
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 |
1 |
|
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 |
1 |
|
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 |
2 |
|
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 |
1 |
|
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 |
0 |
|
autosomal dominant pseudohypoaldosteronism type 1 |
5 |
|
autosomal dominant sensory ataxia 1 |
1 |
|
autosomal dominant severe congenital neutropenia + |
11 |
|
autosomal dominant sideroblastic anemia 4 |
1 |
|
autosomal dominant spondyloepiphyseal dysplasia tarda |
0 |
|
autosomal dominant thrombophilia due to protein S deficiency |
1 |
|
autosomal dominant vitreoretinochoroidopathy |
2 |
|
autosomal dominant woolly hair |
0 |
|
benign familial hematuria + |
7 |
|
benign familial infantile seizures 1 |
1 |
|
benign familial infantile seizures 2 |
1 |
|
benign familial infantile seizures 3 |
8 |
|
benign familial infantile seizures 5 |
2 |
|
benign familial infantile seizures 6 |
49 |
|
bilateral optic nerve hypoplasia |
1 |
|
blepharocheilodontic syndrome + |
2 |
|
blepharophimosis-impaired intellectual development syndrome |
1 |
|
blue color blindness |
1 |
|
brachycephaly, trichomegaly, and developmental delay |
1 |
|
brachydactyly type A1 + |
4 |
|
brachydactyly type A2 + |
3 |
|
brachydactyly type C |
1 |
|
brachydactyly type D + |
1 |
|
brachydactyly-syndactyly syndrome |
1 |
|
brain small vessel disease 1 |
3 |
|
brain small vessel disease 2 |
2 |
|
branchiooculofacial syndrome |
2 |
|
branchiootorenal syndrome + |
13 |
|
bronchiectasis 1 |
5 |
|
bronchiectasis 2 |
2 |
|
bronchiectasis 3 |
1 |
|
bullous congenital ichthyosiform erythroderma |
3 |
|
campomelic dysplasia + |
1 |
|
cardiofaciocutaneous syndrome 1 |
3 |
|
cardiofaciocutaneous syndrome 2 |
1 |
|
cardiofaciocutaneous syndrome 3 |
1 |
|
cardiofaciocutaneous syndrome 4 |
1 |
|
carpal tunnel syndrome 1 |
1 |
|
carpal tunnel syndrome 2 |
1 |
|
cataract 1 multiple types |
8 |
|
cataract 10 multiple types |
1 |
|
cataract 11 multiple types + |
2 |
|
cataract 12 multiple types |
1 |
|
cataract 14 multiple types |
8 |
|
cataract 15 multiple types |
1 |
|
cataract 16 multiple types |
2 |
|
cataract 17 multiple types |
2 |
|
cataract 2 multiple types |
2 |
|
cataract 20 multiple types |
1 |
|
cataract 21 multiple types |
3 |
|
cataract 22 multiple types |
1 |
|
cataract 24 |
0 |
|
cataract 29 |
0 |
|
cataract 3 multiple types |
2 |
|
cataract 30 |
2 |
|
cataract 31 multiple types |
1 |
|
cataract 32 multiple types |
0 |
|
cataract 33 |
3 |
|
cataract 37 |
0 |
|
cataract 39 multiple types |
1 |
|
cataract 4 multiple types + |
1 |
|
cataract 41 |
1 |
|
cataract 42 |
1 |
|
cataract 43 |
1 |
|
cataract 47 |
1 |
|
cataract 5 multiple types |
26 |
|
cataract 6 multiple types |
2 |
|
cataract 7 |
2 |
|
cataract 8 multiple types |
0 |
|
cataract 9 multiple types |
65 |
|
central conducting lymphatic anomaly |
3 |
|
central precocious puberty 1 |
1 |
|
central precocious puberty 2 |
1 |
|
cerebrocostomandibular syndrome |
1 |
|
cherubism + |
46 |
|
childhood onset GLUT1 deficiency syndrome 2 |
1 |
|
childhood-onset neurodegeneration with brain atrophy |
1 |
|
chromosome 13q14 deletion syndrome |
72 |
|
chromosome 15q11.2 deletion syndrome |
31 |
|
chromosome 15q24 deletion syndrome |
10 |
|
chromosome 15q25 deletion syndrome |
0 |
|
chromosome 17p13.1 deletion syndrome |
0 |
|
chromosome 17q11.2 deletion syndrome |
1 |
|
chromosome 17q12 deletion syndrome |
18 |
|
chromosome 18p deletion syndrome |
49 |
|
chromosome 18q deletion syndrome |
56 |
|
chromosome 19p13.13 deletion syndrome |
0 |
|
chromosome 19q13.11 deletion syndrome |
1 |
|
chromosome 1p36.33 duplication syndrome |
0 |
|
chromosome 5q12 deletion syndrome |
0 |
|
cleft palate, cardiac defects, and intellectual disabillity |
1 |
|
cleidocranial dysplasia + |
7 |
|
common variable immunodeficiency 10 |
2 |
|
common variable immunodeficiency 13 |
1 |
|
common variable immunodeficiency 14 |
15 |
|
common variable immunodeficiency 2 |
40 |
|
complex cortical dysplasia with other brain malformations + |
1588 |
|
congenital adrenal insufficiency |
1 |
|
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
2 |
|
congenital central hypoventilation syndrome + |
10 |
|
congenital contractural arachnodactyly |
1 |
|
congenital diarrhea 6 |
2 |
|
congenital dyserythropoietic anemia type IV |
2 |
|
congenital fibrosis of the extraocular muscles 1 |
1 |
|
congenital fibrosis of the extraocular muscles 3A |
1 |
|
congenital fibrosis of the extraocular muscles 3C |
0 |
|
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder |
1 |
|
congenital limbs-face contractures-hypotonia-developmental delay syndrome |
1 |
|
congenital megabladder |
1 |
|
congenital muscular dystrophy due to LMNA mutation |
1 |
|
congenital myasthenic syndrome 18 |
11 |
|
congenital myasthenic syndrome 1A |
5 |
|
congenital myasthenic syndrome 1B |
3 |
|
congenital myasthenic syndrome 2A |
62 |
|
congenital myasthenic syndrome 3A |
1 |
|
congenital myasthenic syndrome 4A |
12 |
|
congenital myasthenic syndrome 7 |
1 |
|
congenital myopathy 15 |
1 |
|
congenital myopathy 16 |
1 |
|
congenital myopathy 18 |
1 |
|
congenital myopathy 1A + |
7 |
|
congenital myopathy 2C |
1 |
|
congenital myopathy 4A + |
8 |
|
congenital myopathy 6 |
12 |
|
congenital myopathy 8 |
1 |
|
congenital nongoitrous hypothyroidism 2 |
2 |
|
congenital nongoitrous hypothyroidism 3 |
0 |
|
congenital nongoitrous hypothyroidism 5 |
1 |
|
congenital nongoitrous hypothyroidism 6 |
2 |
|
congenital nongoitrous hypothyroidism 8 |
1 |
|
congenital nystagmus 2 |
0 |
|
congenital nystagmus 3 |
0 |
|
congenital nystagmus 7 |
0 |
|
congenital stationary night blindness autosomal dominant 1 |
1 |
|
congenital stationary night blindness autosomal dominant 2 |
1 |
|
congenital stationary night blindness autosomal dominant 3 |
1 |
|
congenital symmetric circumferential skin creases 1 |
1 |
|
congenital symmetric circumferential skin creases 2 |
1 |
|
congenital vertical talus |
1 |
|
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A |
1 |
|
cortisone reductase deficiency 2 |
1 |
|
craniofacial-deafness-hand syndrome |
1 |
|
dehydrated hereditary stomatocytosis 1 |
2 |
|
dehydrated hereditary stomatocytosis 2 |
1 |
|
delta beta-thalassemia + |
108 |
|
dentinogenesis imperfecta + |
17 |
|
dermatopathia pigmentosa reticularis |
1 |
|
developmental and epileptic encephalopathy 100 |
1 |
|
developmental and epileptic encephalopathy 103 |
1 |
|
developmental and epileptic encephalopathy 104 |
1 |
|
developmental and epileptic encephalopathy 108 |
1 |
|
developmental and epileptic encephalopathy 109 |
1 |
|
developmental and epileptic encephalopathy 11 |
7 |
|
developmental and epileptic encephalopathy 13 |
5 |
|
developmental and epileptic encephalopathy 14 |
124 |
|
developmental and epileptic encephalopathy 17 |
1 |
|
developmental and epileptic encephalopathy 19 |
1 |
|
developmental and epileptic encephalopathy 24 |
1 |
|
developmental and epileptic encephalopathy 26 |
8 |
|
developmental and epileptic encephalopathy 27 |
2 |
|
developmental and epileptic encephalopathy 30 |
65 |
|
developmental and epileptic encephalopathy 31A |
33 |
|
developmental and epileptic encephalopathy 32 |
10 |
|
developmental and epileptic encephalopathy 33 |
48 |
|
developmental and epileptic encephalopathy 4 |
5 |
|
developmental and epileptic encephalopathy 41 |
1 |
|
developmental and epileptic encephalopathy 42 |
1 |
|
developmental and epileptic encephalopathy 43 |
1 |
|
developmental and epileptic encephalopathy 45 |
1 |
|
developmental and epileptic encephalopathy 46 |
1 |
|
developmental and epileptic encephalopathy 47 |
1 |
|
developmental and epileptic encephalopathy 5 |
1 |
|
developmental and epileptic encephalopathy 54 |
52 |
|
developmental and epileptic encephalopathy 56 |
1 |
|
developmental and epileptic encephalopathy 57 |
1 |
|
developmental and epileptic encephalopathy 58 |
1 |
|
developmental and epileptic encephalopathy 59 |
1 |
|
developmental and epileptic encephalopathy 62 |
1 |
|
developmental and epileptic encephalopathy 64 |
2 |
|
developmental and epileptic encephalopathy 65 |
1 |
|
developmental and epileptic encephalopathy 66 |
2 |
|
developmental and epileptic encephalopathy 67 |
2 |
|
developmental and epileptic encephalopathy 69 |
1 |
|
developmental and epileptic encephalopathy 6B |
1 |
|
developmental and epileptic encephalopathy 7 |
1 |
|
developmental and epileptic encephalopathy 70 |
2 |
|
developmental and epileptic encephalopathy 72 |
1 |
|
developmental and epileptic encephalopathy 73 |
1 |
|
developmental and epileptic encephalopathy 74 |
1 |
|
developmental and epileptic encephalopathy 78 |
1 |
|
developmental and epileptic encephalopathy 79 |
1 |
|
developmental and epileptic encephalopathy 87 |
2 |
|
developmental and epileptic encephalopathy 91 |
1 |
|
developmental and epileptic encephalopathy 92 |
2 |
|
developmental and epileptic encephalopathy 93 |
1 |
|
developmental and epileptic encephalopathy 96 |
1 |
|
developmental and epileptic encephalopathy 97 |
1 |
|
developmental and epileptic encephalopathy 98 |
1 |
|
developmental and epileptic encephalopathy 99 |
1 |
|
developmental dysplasia of the hip 1 |
1 |
|
developmental dysplasia of the hip 2 |
0 |
|
diaphyseal medullary stenosis with malignant fibrous histiocytoma |
1 |
|
diffuse cystic renal dysplasia |
3 |
|
dilated cardiomyopathy 1A |
34 |
|
dilated cardiomyopathy 1AA |
4 |
|
dilated cardiomyopathy 1B |
32 |
|
dilated cardiomyopathy 1C |
1 |
|
dilated cardiomyopathy 1CC |
1 |
|
dilated cardiomyopathy 1D |
1 |
|
dilated cardiomyopathy 1DD |
5 |
|
dilated cardiomyopathy 1E |
1 |
|
dilated cardiomyopathy 1HH |
1 |
|
dilated cardiomyopathy 1II |
9 |
|
dilated cardiomyopathy 1JJ |
1 |
|
dilated cardiomyopathy 1KK |
1 |
|
dilated cardiomyopathy 1LL |
53 |
|
dilated cardiomyopathy 1MM |
1 |
|
dilated cardiomyopathy 1NN |
1 |
|
dilated cardiomyopathy 1R |
1 |
|
dilated cardiomyopathy 1S |
14 |
|
dilated cardiomyopathy 1U |
1 |
|
dilated cardiomyopathy 1V |
1 |
|
dilated cardiomyopathy 1Y |
2 |
|
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome |
1 |
|
distal arthrogryposis type 10 |
0 |
|
distal arthrogryposis type 1A |
90 |
|
distal arthrogryposis type 1B |
1 |
|
distal arthrogryposis type 2A |
1 |
|
distal arthrogryposis type 2B1 |
4 |
|
distal arthrogryposis type 2B2 |
1 |
|
distal arthrogryposis type 2B3 |
1 |
|
distal arthrogryposis type 3 |
1 |
|
distal arthrogryposis type 5 |
1 |
|
distal arthrogryposis type 7 |
2 |
|
distal myopathy 1 |
2 |
|
distal myopathy 3 |
1 |
|
distal myopathy Tateyama type |
3 |
|
distal myopathy with rimmed vacuoles |
2 |
|
dominant optic atrophy plus syndrome |
1 |
|
dominant pericentral pigmentary retinopathy |
0 |
|
dysplastic nevus syndrome |
4 |
|
dystonia 12 |
3 |
|
dystonia 21 |
0 |
|
dystonia 23 |
2 |
|
dystonia 24 |
1 |
|
dystonia 25 |
1 |
|
dystonia 28 childhood-onset |
1 |
|
dystonia 30 |
2 |
|
dystonia 33 |
1 |
|
dystonia 5 |
9 |
|
dystonia 9 |
1 |
|
dystonia, DOPA-responsive |
2 |
|
dystransthyretinemic hyperthyroxinemia |
1 |
|
early-onset dystonia and/or spastic paraplegia |
1 |
|
early-onset epilepsy 2 |
1 |
|
early-onset epilepsy 3 |
1 |
|
ectodermal dysplasia 10A |
9 |
|
ectodermal dysplasia 11A |
1 |
|
ectodermal dysplasia 12 |
1 |
|
ectodermal dysplasia and immunodeficiency 2 |
8 |
|
epidermolysis bullosa simplex Ogna type |
1 |
|
epidermolysis bullosa simplex generalized type + |
14 |
|
epidermolysis bullosa simplex localized type + |
4 |
|
epidermolysis bullosa simplex with mottled pigmentation |
1 |
|
epidermolytic hyperkeratosis 1 |
1 |
|
episodic kinesigenic dyskinesia 1 |
25 |
|
episodic kinesigenic dyskinesia 2 |
0 |
|
episodic kinesigenic dyskinesia 3 |
1 |
|
epithelial basement membrane dystrophy |
1 |
|
epithelial recurrent erosion dystrophy |
1 |
|
erythrokeratodermia variabilis et progressiva 1 |
3 |
|
erythrokeratodermia variabilis et progressiva 2 |
1 |
|
erythrokeratodermia variabilis et progressiva 3 |
1 |
|
erythrokeratodermia variabilis et progressiva 6 |
1 |
|
essential tremor 1 |
3 |
|
essential tremor 2 |
0 |
|
essential tremor 4 |
1 |
|
essential tremor 5 |
1 |
|
essential tremor 6 |
1 |
|
exudative vitreoretinopathy 1 |
18 |
|
exudative vitreoretinopathy 3 |
0 |
|
exudative vitreoretinopathy 5 |
1 |
|
exudative vitreoretinopathy 6 |
1 |
|
exudative vitreoretinopathy 7 |
1 |
|
familial Behcet-like autoinflammatory syndrome 1 |
1 |
|
familial adenomatous polyposis 1 |
360 |
|
familial adult myoclonic epilepsy 1 |
1 |
|
familial adult myoclonic epilepsy 2 |
2 |
|
familial adult myoclonic epilepsy 3 |
1 |
|
familial adult myoclonic epilepsy 4 |
1 |
|
familial adult myoclonic epilepsy 6 |
1 |
|
familial adult myoclonic epilepsy 7 |
1 |
|
familial apolipoprotein A5 deficiency |
1 |
|
familial cold autoinflammatory syndrome 1 |
1 |
|
familial cold autoinflammatory syndrome 2 |
4 |
|
familial cold autoinflammatory syndrome 3 |
1 |
|
familial cold autoinflammatory syndrome 4 |
7 |
|
familial encephalopathy with neuroserpin inclusion bodies |
3 |
|
familial episodic pain syndrome 1 |
1 |
|
familial episodic pain syndrome 2 |
1 |
|
familial episodic pain syndrome 3 |
1 |
|
familial erythrocytosis 1 |
5 |
|
familial erythrocytosis 3 |
1 |
|
familial erythrocytosis 5 |
1 |
|
familial expansile osteolysis |
1 |
|
familial focal epilepsy with variable foci + |
9 |
|
familial gestational hyperthyroidism |
2 |
|
familial hyperinsulinemic hypoglycemia 1 |
3 |
|
familial hyperinsulinemic hypoglycemia 2 |
2 |
|
familial hyperinsulinemic hypoglycemia 3 |
1 |
|
familial hyperinsulinemic hypoglycemia 5 |
1 |
|
familial hyperinsulinemic hypoglycemia 6 |
2 |
|
familial hyperinsulinemic hypoglycemia 7 |
1 |
|
familial hypocalciuric hypercalcemia + |
38 |
|
familial juvenile hyperuricemic nephropathy + |
8 |
|
familial male-limited precocious puberty |
4 |
|
familial multiple lipomatosis |
0 |
|
familial partial lipodystrophy type 2 |
1 |
|
familial partial lipodystrophy type 3 |
2 |
|
familial partial lipodystrophy type 4 |
1 |
|
familial progressive hyperpigmentation with or without hypopigmentation |
1 |
|
familial temporal lobe epilepsy 1 |
10 |
|
familial temporal lobe epilepsy 2 |
1 |
|
familial temporal lobe epilepsy 3 |
1 |
|
familial temporal lobe epilepsy 4 |
0 |
|
familial temporal lobe epilepsy 5 |
1 |
|
familial temporal lobe epilepsy 6 |
0 |
|
familial temporal lobe epilepsy 7 |
1 |
|
familial temporal lobe epilepsy 8 |
1 |
|
familial visceral amyloidosis |
4 |
|
fibrochondrogenesis 2 |
1 |
|
fibrodysplasia ossificans progressiva |
4 |
|
focal nonepidermolytic palmoplantar keratoderma 1 |
1 |
|
focal nonepidermolytic palmoplantar keratoderma 2 |
1 |
|
focal or diffuse nonepidermolytic palmoplantar keratoderma |
1 |
|
focal segmental glomerulosclerosis 1 |
21 |
|
focal segmental glomerulosclerosis 2 |
1 |
|
focal segmental glomerulosclerosis 5 |
16 |
|
focal segmental glomerulosclerosis 7 |
1 |
|
focal segmental glomerulosclerosis 8 |
2 |
|
foveal hypoplasia 1 |
2 |
|
frontometaphyseal dysplasia 2 |
1 |
|
geleophysic dysplasia 2 |
1 |
|
geleophysic dysplasia 3 |
1 |
|
giant axonal neuropathy 2 |
1 |
|
gingival fibromatosis 5 |
1 |
|
glomangioma + |
1 |
|
gnathodiaphyseal dysplasia |
1 |
|
granular corneal dystrophy + |
1 |
|
growth hormone insensitivity syndrome with immune dysregulation 2 |
1 |
|
hand-foot-genital syndrome |
2 |
|
hawkinsinuria |
1 |
|
heparin cofactor II deficiency |
2 |
|
hereditary angioedema + |
11 |
|
hereditary breast ovarian cancer syndrome |
172 |
|
hereditary diffuse gastric cancer |
4 |
|
hereditary hemorrhagic telangiectasia + |
14 |
|
hereditary lymphedema IA |
3 |
|
hereditary lymphedema IB |
0 |
|
hereditary lymphedema IC |
1 |
|
hereditary lymphedema ID |
1 |
|
hereditary lymphedema II |
0 |
|
hereditary mixed polyposis syndrome 2 |
1 |
|
hereditary multiple exostoses + |
26 |
|
hereditary neuropathy with liability to pressure palsies |
9 |
|
hereditary neutrophilia |
1 |
|
hereditary sensory and autonomic neuropathy type 1A |
1 |
|
hereditary sensory and autonomic neuropathy type 1C |
9 |
|
hereditary sensory and autonomic neuropathy type 7 |
3 |
|
hereditary sensory neuropathy type 1B |
0 |
|
hereditary sensory neuropathy type 1D |
2 |
|
hereditary sensory neuropathy type 1E |
2 |
|
hereditary sensory neuropathy type 1F |
1 |
|
hereditary spastic paraplegia 10 |
11 |
|
hereditary spastic paraplegia 12 |
1 |
|
hereditary spastic paraplegia 13 |
1 |
|
hereditary spastic paraplegia 17 |
2 |
|
hereditary spastic paraplegia 19 |
0 |
|
hereditary spastic paraplegia 29 |
0 |
|
hereditary spastic paraplegia 31 |
16 |
|
hereditary spastic paraplegia 33 |
3 |
|
hereditary spastic paraplegia 36 |
0 |
|
hereditary spastic paraplegia 37 |
0 |
|
hereditary spastic paraplegia 38 |
0 |
|
hereditary spastic paraplegia 3A |
3 |
|
hereditary spastic paraplegia 4 |
18 |
|
hereditary spastic paraplegia 41 |
0 |
|
hereditary spastic paraplegia 42 |
1 |
|
hereditary spastic paraplegia 6 |
4 |
|
hereditary spastic paraplegia 72A |
1 |
|
hereditary spastic paraplegia 73 |
2 |
|
hereditary spastic paraplegia 79A |
1 |
|
hereditary spastic paraplegia 8 |
6 |
|
hereditary spastic paraplegia 80 |
1 |
|
hereditary spastic paraplegia 88 |
1 |
|
hereditary spastic paraplegia 90A |
1 |
|
hereditary spastic paraplegia 90B |
1 |
|
hereditary spastic paraplegia 9A |
1 |
|
hereditary spherocytosis type 1 |
4 |
|
hereditary spherocytosis type 2 |
2 |
|
hereditary spherocytosis type 4 |
1 |
|
holoprosencephaly 1 |
5 |
|
holoprosencephaly 11 |
52 |
|
holoprosencephaly 12 |
1 |
|
holoprosencephaly 2 |
3 |
|
holoprosencephaly 3 |
15 |
|
holoprosencephaly 4 |
7 |
|
holoprosencephaly 5 |
47 |
|
holoprosencephaly 7 |
2 |
|
holoprosencephaly 9 |
2 |
|
hot water epilepsy 1 |
0 |
|
hyper IgE recurrent infection syndrome 1 |
6 |
|
hyperalphalipoproteinemia 1 |
0 |
|
hyperekplexia 1 |
3 |
|
hyperekplexia 3 |
1 |
|
hyperferritinemia-cataract syndrome |
2 |
|
hypertension and brachydactyly syndrome |
1 |
|
hypochondroplasia |
1 |
|
hypogonadotropic hypogonadism 14 with or without anosmia |
1 |
|
hypogonadotropic hypogonadism 15 with or without anosmia |
1 |
|
hypogonadotropic hypogonadism 16 with or without anosmia |
1 |
|
hypogonadotropic hypogonadism 17 with or without anosmia |
1 |
|
hypogonadotropic hypogonadism 18 with or without anosmia |
1 |
|
hypogonadotropic hypogonadism 19 with or without anosmia |
1 |
|
hypogonadotropic hypogonadism 2 with or without anosmia + |
23 |
|
hypogonadotropic hypogonadism 20 with or without anosmia |
1 |
|
hypogonadotropic hypogonadism 21 with or without anosmia |
2 |
|
hypogonadotropic hypogonadism 3 with or without anosmia |
1 |
|
hypogonadotropic hypogonadism 4 with or without anosmia |
1 |
|
hypogonadotropic hypogonadism 5 with or without anosmia + |
1 |
|
hypogonadotropic hypogonadism 6 with or without anosmia |
1 |
|
hypogonadotropic hypogonadism 9 with or without anosmia |
1 |
|
hypoinsulinemic hypoglycemia with hemihypertrophy |
1 |
|
hypomyelinating leukodystrophy 16 |
1 |
|
hypomyelinating leukodystrophy 19 |
1 |
|
hypomyelinating leukodystrophy 22 |
1 |
|
hypomyelinating leukodystrophy 24 |
1 |
|
hypomyelinating leukodystrophy 25 |
1 |
|
hypomyelinating leukodystrophy 6 |
1 |
|
hypophosphatemic nephrolithiasis/osteoporosis 1 |
3 |
|
hypophosphatemic nephrolithiasis/osteoporosis 2 |
1 |
|
hypoplastic or aplastic tibia with polydactyly |
2 |
|
hypotonia, ataxia, and delayed development syndrome |
1 |
|
hypotrichosis 1 |
6 |
|
hypotrichosis 11 |
1 |
|
hypotrichosis 12 |
1 |
|
hypotrichosis 13 |
1 |
|
hypotrichosis 2 |
1 |
|
hypotrichosis 3 |
0 |
|
hypotrichosis 4 |
2 |
|
hypotrichosis 5 |
1 |
|
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
1 |
|
ichthyosis vulgaris + |
3 |
|
immunodeficiency 11B |
1 |
|
immunodeficiency 13 |
1 |
|
immunodeficiency 14 |
22 |
|
immunodeficiency 15A |
1 |
|
immunodeficiency 21 |
36 |
|
immunodeficiency 27B |
1 |
|
immunodeficiency 31A |
1 |
|
immunodeficiency 31C |
2 |
|
immunodeficiency 32A |
1 |
|
immunodeficiency 36 |
1 |
|
immunodeficiency 39 |
61 |
|
immunodeficiency 49 |
1 |
|
immunodeficiency 60 |
1 |
|
immunodeficiency 70 |
1 |
|
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis |
1 |
|
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia |
1 |
|
inclusion body myopathy and brain white matter abnormalities |
1 |
|
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 |
1 |
|
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 |
1 |
|
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 |
1 |
|
infantile-onset distal myopathy |
0 |
|
inflammatory bowel disease 21 |
0 |
|
inflammatory bowel disease 29 |
1 |
|
inflammatory bowel disease 3 |
0 |
|
inflammatory bowel disease 30 |
0 |
|
intellectual disability-severe speech delay-mild dysmorphism syndrome |
1 |
|
intracranial berry aneurysm 1 |
0 |
|
intracranial berry aneurysm 3 |
0 |
|
intrahepatic cholestasis of pregnancy 1 |
1 |
|
intrahepatic cholestasis of pregnancy 3 |
2 |
|
iridogoniodysgenesis syndrome + |
2 |
|
ischiocoxopodopatellar syndrome |
1 |
|
isolated elevated serum creatine phosphokinase levels |
20 |
|
isolated microphthalmia 7 |
1 |
|
isolated mitochondrial myopathy |
2 |
|
juvenile amyotrophic lateral sclerosis type 27 |
1 |
|
juvenile glaucoma |
6 |
|
juvenile polyposis syndrome + |
15 |
|
keratosis palmoplantaris striata 1 |
2 |
|
keratosis palmoplantaris striata 2 |
1 |
|
keratosis palmoplantaris striata 3 |
1 |
|
lacrimoauriculodentodigital syndrome 1 |
3 |
|
lacrimoauriculodentodigital syndrome 2 |
1 |
|
lacrimoauriculodentodigital syndrome 3 |
1 |
|
lateral meningocele syndrome |
1 |
|
lattice corneal dystrophy + |
4 |
|
leucine-sensitive hypoglycemia of infancy |
2 |
|
lissencephaly 1 |
3 |
|
lissencephaly 10 |
2 |
|
lissencephaly 3 + |
3 |
|
lissencephaly 9 with complex brainstem malformation |
1 |
|
long QT syndrome 1 |
24 |
|
long QT syndrome 10 + |
38 |
|
long QT syndrome 11 |
1 |
|
long QT syndrome 12 |
1 |
|
long QT syndrome 13 |
1 |
|
long QT syndrome 14 |
1 |
|
long QT syndrome 15 |
1 |
|
long QT syndrome 16 |
1 |
|
long QT syndrome 2 |
7 |
|
long QT syndrome 3 |
1 |
|
long QT syndrome 4 |
1 |
|
long QT syndrome 5 |
1 |
|
long QT syndrome 6 |
6 |
|
long QT syndrome 8 |
1 |
|
long QT syndrome 9 |
4 |
|
lymphedema-distichiasis syndrome + |
1 |
|
macrocephaly-autism syndrome |
2 |
|
malignant hyperthermia + |
13 |
|
mandibulofacial dysostosis, Guion-Almeida type |
1 |
|
maturity-onset diabetes of the young + |
104 |
|
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations |
1 |
|
megalencephalic leukoencephalopathy with subcortical cysts 2B |
1 |
|
melanoma and neural system tumor syndrome |
1 |
|
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome |
2 |
|
metatropic dysplasia |
1 |
|
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation |
1 |
|
mitochondrial DNA depletion syndrome 12a |
3 |
|
mitochondrial complex V (ATP synthase) deficiency nuclear type 4A |
1 |
|
monilethrix + |
4 |
|
multicentric carpotarsal osteolysis syndrome |
1 |
|
multiple cutaneous and mucosal venous malformations |
2 |
|
multiple endocrine neoplasia type 1 |
8 |
|
multiple endocrine neoplasia type 2A + |
7 |
|
multiple endocrine neoplasia type 2B + |
1 |
|
multiple endocrine neoplasia type 4 |
3 |
|
multiple epiphyseal dysplasia 1 |
2 |
|
multiple epiphyseal dysplasia 2 |
1 |
|
multiple epiphyseal dysplasia 3 |
1 |
|
multiple epiphyseal dysplasia 5 |
2 |
|
multiple epiphyseal dysplasia 6 |
1 |
|
multiple epiphyseal dysplasia with myopia and deafness |
1 |
|
multiple synostoses syndrome + |
4 |
|
multiple types of congenital heart defects 6 |
3 |
|
myoclonic dystonia 11 |
4 |
|
myoclonic dystonia 15 |
0 |
|
myoclonic dystonia 26 |
51 |
|
myoclonic dystonia 34 |
1 |
|
myoclonic-atonic epilepsy |
19 |
|
myofibrillar myopathy 1 |
45 |
|
myofibrillar myopathy 2 |
1 |
|
myofibrillar myopathy 4 |
1 |
|
myofibrillar myopathy 5 |
6 |
|
myofibrillar myopathy 6 |
2 |
|
nail-patella syndrome + |
4 |
|
nemaline myopathy 4 |
1 |
|
nemaline myopathy 5C |
1 |
|
nemaline myopathy 6 |
42 |
|
nephrogenic diabetes insipidus type 2 |
1 |
|
nephrotic syndrome type 4 |
1 |
|
neurodegeneration with brain iron accumulation 3 |
2 |
|
neurodevelopmental disorder with involuntary movements |
1 |
|
neurofibromatosis + |
55 |
|
neurofibromatosis-Noonan syndrome |
4 |
|
neurogenic scapuloperoneal syndrome Kaeser type |
1 |
|
neurohypophyseal diabetes insipidus + |
1 |
|
neuronal ceroid lipofuscinosis 4 |
1 |
|
neuronal intranuclear inclusion disease |
1 |
|
neurooculocardiogenitourinary syndrome |
1 |
|
nevoid basal cell carcinoma syndrome 1 |
1 |
|
nonautoimmune hyperthyroidism |
2 |
|
nonsyndromic congenital nail disorder 1 |
1 |
|
nonsyndromic congenital nail disorder 2 |
0 |
|
nonsyndromic congenital nail disorder 3 |
1 |
|
nonsyndromic congenital nail disorder 5 |
0 |
|
nonsyndromic congenital nail disorder 6 |
0 |
|
nonsyndromic congenital nail disorder 7 |
0 |
|
nonsyndromic congenital nail disorder 8 |
1 |
|
oblique facial clefting 1 |
1 |
|
ocular albinism with sensorineural deafness |
3 |
|
oculopharyngodistal myopathy 1 |
1 |
|
oculopharyngodistal myopathy 2 |
1 |
|
oculopharyngodistal myopathy 3 |
0 |
|
oculopharyngodistal myopathy 4 |
1 |
|
omodysplasia 2 |
1 |
|
optic atrophy 1 |
3 |
|
optic atrophy 10 |
1 |
|
optic atrophy 12 |
2 |
|
optic atrophy 3 |
1 |
|
optic atrophy 4 |
0 |
|
optic atrophy 5 |
2 |
|
optic atrophy 8 |
0 |
|
orofacial cleft 1 |
13 |
|
orofacial cleft 13 |
0 |
|
orofacial cleft 6 |
1 |
|
orofaciodigital syndrome X |
0 |
|
osteogenesis imperfecta type 1 |
14 |
|
osteogenesis imperfecta type 2 + |
3 |
|
osteogenesis imperfecta type 3 |
11 |
|
osteogenesis imperfecta type 4 |
3 |
|
osteogenesis imperfecta type 5 |
3 |
|
osteoglophonic dysplasia |
1 |
|
otosclerosis + |
7 |
|
otospondylomegaepiphyseal dysplasia, autosomal dominant |
2 |
|
ovarian dysgenesis 8 |
1 |
|
overhydrated hereditary stomatocytosis |
1 |
|
pachyonychia congenita + |
2 |
|
palmoplantar keratoderma-deafness syndrome |
3 |
|
palmoplantar keratoderma-esophageal carcinoma syndrome |
1 |
|
pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
1 |
|
paraganglioma + |
47 |
|
paramyotonia congenita of Von Eulenburg |
1 |
|
parastremmatic dwarfism |
1 |
|
paroxysmal extreme pain disorder |
2 |
|
paroxysmal nonkinesigenic dyskinesia 1 |
53 |
|
paroxysmal nonkinesigenic dyskinesia 2 |
0 |
|
paroxysmal nonkinesigenic dyskinesia 3 |
3 |
|
permanent neonatal diabetes mellitus + |
8 |
|
piebaldism + |
10 |
|
pigmented paravenous chorioretinal atrophy |
1 |
|
platelet-type bleeding disorder 12 |
0 |
|
platelet-type bleeding disorder 14 |
1 |
|
platelet-type bleeding disorder 15 |
2 |
|
platelet-type bleeding disorder 16 |
2 |
|
platelet-type bleeding disorder 17 |
1 |
|
platelet-type bleeding disorder 20 |
1 |
|
platelet-type bleeding disorder 3 |
1 |
|
platelet-type bleeding disorder 9 |
2 |
|
polycystic liver disease + |
29 |
|
popliteal pterygium syndrome + |
3 |
|
posterior amorphous corneal dystrophy |
0 |
|
posterior polymorphous corneal dystrophy 1 |
4 |
|
posterior polymorphous corneal dystrophy 2 |
1 |
|
posterior polymorphous corneal dystrophy 4 |
1 |
|
primary ciliary dyskinesia 43 |
1 |
|
primary failure of tooth eruption |
1 |
|
primary ovarian insufficiency 11 |
1 |
|
primary ovarian insufficiency 16 |
25 |
|
primary ovarian insufficiency 3 |
2 |
|
primary ovarian insufficiency 5 |
1 |
|
primary ovarian insufficiency 6 |
1 |
|
primary ovarian insufficiency 7 |
1 |
|
progeria + |
20 |
|
progressive familial heart block type IA |
3 |
|
progressive familial heart block type IB |
10 |
|
progressive familial heart block type II |
0 |
|
progressive myoclonus epilepsy 7 |
24 |
|
progressive osseous heteroplasia |
6 |
|
proprotein convertase 1/3 deficiency |
2 |
|
protein C deficiency + |
16 |
|
proteosome-associated autoinflammatory syndrome 2 |
1 |
|
prothrombin thrombophilia |
0 |
|
proximal symphalangism + |
6 |
|
pseudoachondroplasia |
1 |
|
pulmonary venoocclusive disease 1 |
2 |
|
punctate palmoplantar keratoderma type II |
1 |
|
punctate palmoplantar keratoderma type III |
0 |
|
renal coloboma syndrome |
3 |
|
retinal arterial tortuosity |
2 |
|
retinal cone dystrophy 1 |
0 |
|
retinal macular dystrophy + |
3 |
|
retinal vasculopathy with cerebral leukodystrophy |
2 |
|
retinitis pigmentosa 1 |
2 |
|
retinitis pigmentosa 10 |
1 |
|
retinitis pigmentosa 11 |
1 |
|
retinitis pigmentosa 13 |
1 |
|
retinitis pigmentosa 17 |
1 |
|
retinitis pigmentosa 18 |
1 |
|
retinitis pigmentosa 27 |
1 |
|
retinitis pigmentosa 33 |
1 |
|
retinitis pigmentosa 35 |
1 |
|
retinitis pigmentosa 37 |
1 |
|
retinitis pigmentosa 4 |
1 |
|
retinitis pigmentosa 42 |
1 |
|
retinitis pigmentosa 60 |
1 |
|
retinitis pigmentosa 63 |
0 |
|
retinitis pigmentosa 7 |
2 |
|
retinitis pigmentosa 70 |
1 |
|
retinitis pigmentosa 83 |
1 |
|
retinitis pigmentosa 87 |
1 |
|
retinitis pigmentosa 89 |
1 |
|
retinitis pigmentosa 9 |
1 |
|
retinitis pigmentosa-deafness syndrome |
12 |
|
ring dermoid of cornea |
1 |
|
scalp-ear-nipple syndrome |
1 |
|
scapuloperoneal spinal muscular atrophy |
1 |
|
schizophrenia 1 |
0 |
|
schizophrenia 10 |
0 |
|
schizophrenia 11 |
0 |
|
schizophrenia 12 |
0 |
|
schizophrenia 15 |
1 |
|
schizophrenia 2 |
0 |
|
schizophrenia 3 |
0 |
|
schizophrenia 4 |
2 |
|
schizophrenia 5 |
0 |
|
schizophrenia 6 |
1 |
|
schizophrenia 7 |
0 |
|
schizophrenia 8 |
0 |
|
sclerosteosis 2 |
1 |
|
selective pituitary thyroid hormone resistance |
1 |
|
sepiapterin reductase deficiency |
1 |
|
snowflake vitreoretinal degeneration |
2 |
|
solitary median maxillary central incisor |
2 |
|
spastic ataxia 1 |
2 |
|
spastic ataxia 7 |
0 |
|
speech-language disorder-1 |
5 |
|
spermatogenic failure 10 |
1 |
|
spermatogenic failure 11 |
1 |
|
spermatogenic failure 12 |
1 |
|
spermatogenic failure 2 |
1 |
|
spermatogenic failure 3 |
34 |
|
spermatogenic failure 32 |
1 |
|
spermatogenic failure 36 |
2 |
|
spermatogenic failure 4 |
6 |
|
spermatogenic failure 8 |
1 |
|
spinal muscular atrophy with predominant lower extremity + |
14 |
|
spinal muscular atrophy, Jokela type |
2 |
|
split hand-foot malformation 1 |
3 |
|
split hand-foot malformation 4 |
1 |
|
spondyloepimetaphyseal dysplasia with joint laxity type 2 |
1 |
|
spondyloepimetaphyseal dysplasia, Missouri type |
1 |
|
spondyloepimetaphyseal dysplasia, Strudwick type |
3 |
|
spondyloepiphyseal dysplasia Kimberley type |
1 |
|
spondyloepiphyseal dysplasia Maroteaux type |
1 |
|
spondyloepiphyseal dysplasia Nishimura type |
2 |
|
spondyloepiphyseal dysplasia Stanescu type |
2 |
|
spondyloepiphyseal dysplasia congenita |
6 |
|
spondylometaphyseal dysplasia Kozlowski type |
1 |
|
spondylometaphyseal dysplasia corner fracture type |
3 |
|
spondyloperipheral dysplasia |
1 |
|
stiff skin syndrome |
1 |
|
syndactyly type 1 |
2 |
|
syndactyly type 3 |
1 |
|
syndactyly type 4 |
2 |
|
syndactyly type 5 |
2 |
|
syndactyly-telecanthus-anogenital and renal malformations syndrome |
1 |
|
syndromic microphthalmia 3 |
12 |
|
syndromic microphthalmia 5 |
43 |
|
syndromic microphthalmia 6 |
7 |
|
tarsal-carpal coalition syndrome + |
1 |
|
terminal osseous dysplasia |
1 |
|
thrombophilia due to HRG deficiency |
1 |
|
thrombophilia due to activated protein C resistance |
4 |
|
thrombophilia due to thrombin defect |
5 |
|
tibial muscular dystrophy |
1 |
|
torsion dystonia 1 |
1 |
|
torsion dystonia 13 |
0 |
|
torsion dystonia 4 |
1 |
|
torsion dystonia 6 |
18 |
|
torsion dystonia 7 |
1 |
|
torsion dystonia with onset in infancy |
0 |
|
transthyretin amyloidosis |
8 |
|
trichodontoosseous syndrome |
44 |
|
trichorhinophalangeal syndrome type I |
59 |
|
trichorhinophalangeal syndrome type II |
2 |
|
trichorhinophalangeal syndrome type III |
1 |
|
tuberous sclerosis + |
181 |
|
tubular aggregate myopathy 1 |
4 |
|
tubular aggregate myopathy 2 |
1 |
|
type 1 diabetes mellitus 2 |
4 |
|
ulnar-mammary syndrome |
1 |
|
uveal coloboma-cleft lip and palate-intellectual disability |
1 |
|
variant ABeta2M amyloidosis |
0 |
|
vascular type Ehlers-Danlos syndrome + |
1 |
|
vertebral anomalies and variable endocrine and T-cell dysfunction |
1 |
|
vertebral hypersegmentation and orofacial anomalies |
1 |
|
warfarin sensitivity + |
6 |
|
white sponge nevus 1 |
2 |
|
white sponge nevus 2 |
1 |
|