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Autosomal dominant disease

MONDO:0000426

Autosomal dominant form of disease.

Also known as: autosomal dominant disease or disorder, autosomal dominant hereditary disorder, autosomal dominant inherited disorder, disease or disorder, autosomal dominant, disease, autosomal dominant

699 clinical trials for this condition and its sub-types, 0 tagged with Autosomal dominant disease itself.

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Part of

↑ Autosomal genetic disease (1670)

Sub-types of Autosomal dominant disease

Neurofibromatosis 19 trials · 94 incl. sub-types
5 sub-types
- Neurofibromatosis type 1 73 trials Sub-types →
- NF2-related schwannomatosis 21 trials
- Schwannomatosis 3 trials Sub-types →
- Neurofibromatosis-Noonan syndrome 2 trials Sub-types →
- Neurofibromatosis, type IV, of Riccardi 0 trials
Lynch syndrome 81 trials · 83 incl. sub-types
5 sub-types
- Lynch syndrome 1 5 trials
- Lynch syndrome 2 3 trials
- Lynch syndrome 4 0 trials
- Lynch syndrome 5 0 trials
- Lynch syndrome 8 0 trials
Autosomal dominant polycystic kidney disease 59 trials
7 sub-types
- Polycystic kidney disease 1 1 trial
- ALG9-associated autosomal dominant polycystic kidney disease 0 trials
- Polycystic kidney disease 2 0 trials
- Polycystic kidney disease 3 with or without polycystic liver disease 0 trials
- Polycystic kidney disease 6 with or without polycystic liver disease 0 trials
- Polycystic kidney disease 7 0 trials
- Polycystic kidney disease 8 0 trials
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 53 trials
Tuberous sclerosis 41 trials · 44 incl. sub-types
2 sub-types
- Tuberous sclerosis 1 33 trials
- Tuberous sclerosis 2 2 trials
Hereditary breast ovarian cancer syndrome 35 trials · 38 incl. sub-types
2 sub-types
- Breast-ovarian cancer, familial, susceptibility to, 1 3 trials
- Breast-ovarian cancer, familial, susceptibility to, 2 2 trials
Early-onset autosomal dominant Alzheimer disease 31 trials · 37 incl. sub-types
14 sub-types
- Alzheimer disease 3 5 trials
- Alzheimer disease type 1 4 trials
- Alzheimer disease 4 3 trials
- Alzheimer disease 10 1 trial
- Alzheimer disease 11 1 trial
- Alzheimer disease 12 1 trial
- Alzheimer disease 13 1 trial
- Alzheimer disease 14 1 trial
- Alzheimer disease 5 1 trial
- Alzheimer disease 6 1 trial
- Alzheimer disease 7 1 trial
- Alzheimer disease 8 1 trial
- Alzheimer disease without neurofibrillary tangles 1 trial
- Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology 0 trials
Hereditary hemorrhagic telangiectasia 34 trials
5 sub-types
- Telangiectasia, hereditary hemorrhagic, type 1 4 trials
- Hereditary hemorrhagic telangiectasia type 3 0 trials
- Hereditary hemorrhagic telangiectasia type 4 0 trials
- Telangiectasia, hereditary hemorrhagic, type 2 0 trials
- Telangiectasia, hereditary hemorrhagic, type 5 0 trials
Multiple endocrine neoplasia type 1 34 trials
Autosomal dominant cerebellar ataxia 11 trials · 33 incl. sub-types
15 sub-types
- Autosomal dominant cerebellar ataxia type I 0 trials · 16 incl. sub-types Sub-types →
- Autosomal dominant cerebellar ataxia type III 0 trials · 9 incl. sub-types Sub-types →
- Autosomal dominant cerebellar ataxia type IV 0 trials · 8 incl. sub-types Sub-types →
- Spinocerebellar ataxia 7 7 trials
- Spinocerebellar ataxia 27B, late-onset 4 trials
- Spinocerebellar ataxia 9 2 trials
- Spinocerebellar ataxia 27A 1 trial
- GRID2-related autosomal dominant spinocerebellar ataxia 0 trials
- Spinocerebellar ataxia 43 0 trials
- Spinocerebellar ataxia 44 0 trials
- Spinocerebellar ataxia 47 0 trials
- Spinocerebellar ataxia 48 0 trials
- Spinocerebellar ataxia 49 0 trials
- Spinocerebellar ataxia 50 0 trials
- Spinocerebellar ataxia 51 0 trials
Von Hippel-Lindau disease 27 trials
Intellectual disability, autosomal dominant 0 trials · 23 incl. sub-types
29 sub-types
- Autosomal dominant syndromic intellectual disability 0 trials · 15 incl. sub-types Sub-types →
- Autosomal dominant non-syndromic intellectual disability 0 trials · 8 incl. sub-types Sub-types →
- Intellectual disability, autosomal dominant 5 2 trials
- Intellectual developmental disorder, autosomal dominant 64 0 trials
- Intellectual developmental disorder, autosomal dominant 65 0 trials
- Intellectual developmental disorder, autosomal dominant 66 0 trials
- Intellectual developmental disorder, autosomal dominant 67 0 trials
- Intellectual developmental disorder, autosomal dominant 68 0 trials
- Intellectual developmental disorder, autosomal dominant 69 0 trials
- Intellectual developmental disorder, autosomal dominant 70 0 trials
- Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities 0 trials
- Intellectual developmental disorder, autosomal dominant 72 0 trials
- Intellectual developmental disorder, autosomal dominant 74 0 trials
- Intellectual developmental disorder, autosomal dominant 75 0 trials
- Intellectual developmental disorder, autosomal dominant 76 0 trials
- Intellectual disability, autosomal dominant 1 0 trials
- Intellectual disability, autosomal dominant 10 0 trials
- Intellectual disability, autosomal dominant 11 0 trials
- Intellectual disability, autosomal dominant 2 0 trials
- Intellectual disability, autosomal dominant 24 0 trials
- Intellectual disability, autosomal dominant 3 0 trials
- Intellectual disability, autosomal dominant 38 0 trials
- Intellectual disability, autosomal dominant 39 0 trials
- Intellectual disability, autosomal dominant 4 0 trials
- Intellectual disability, autosomal dominant 40 0 trials
- Intellectual disability, autosomal dominant 42 0 trials
- Intellectual disability, autosomal dominant 6 0 trials
- Intellectual disability, autosomal dominant 9 0 trials
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 trials
Marfan syndrome 21 trials
1 sub-type
- Neonatal Marfan syndrome 0 trials
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 19 trials
Li-Fraumeni syndrome 16 trials
NOTCH1-related AOS spectrum disorder 0 trials · 16 incl. sub-types
2 sub-types
- Aortic valve disease 1 16 trials
- Adams-Oliver syndrome 5 0 trials
Cowden disease 11 trials
8 sub-types
- Cowden syndrome 1 1 trial
- Cowden syndrome 2 0 trials
- Cowden syndrome 3 0 trials
- Cowden syndrome 4 0 trials
- Cowden syndrome 5 0 trials
- Cowden syndrome 6 0 trials
- Cowden syndrome 7 0 trials
- Sacral hemangiomas multiple congenital abnormalities 0 trials
Autosomal dominant hypocalcemia 9 trials · 10 incl. sub-types
2 sub-types
- Autosomal dominant hypocalcemia 1 4 trials
- Autosomal dominant hypocalcemia 2 1 trial
Peutz-Jeghers syndrome 9 trials
Neurohypophyseal diabetes insipidus 9 trials
PTEN hamartoma tumor syndrome 6 trials · 8 incl. sub-types
4 sub-types
- Proteus syndrome 2 trials
- Bannayan-Riley-Ruvalcaba syndrome 1 trial
- Proteus-like syndrome 0 trials
- Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 0 trials
Costello syndrome 7 trials
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia 7 trials
2 sub-types
- Familial juvenile hyperuricemic nephropathy type 1 0 trials
- Tubulointerstitial kidney disease, autosomal dominant, 2 0 trials
Loeys-Dietz syndrome 6 trials
6 sub-types
- Loeys-Dietz syndrome 1 0 trials
- Loeys-Dietz syndrome 2 0 trials
- Loeys-Dietz syndrome 4 0 trials
- Loeys-Dietz syndrome 6 0 trials
- Rienhoff syndrome 0 trials
- Aneurysm-osteoarthritis syndrome 0 trials
Autosomal dominant optic atrophy 6 trials
6 sub-types
- Autosomal dominant optic atrophy, classic form 3 trials
- Al Gazali Khidr Prem Chandran syndrome 0 trials
- Autosomal dominant optic atrophy and peripheral neuropathy 0 trials
- Autosomal dominant optic atrophy plus syndrome 0 trials Sub-types →
- Optic atrophy 3 0 trials
- Optic atrophy 5 0 trials
Melanoma, cutaneous malignant, susceptibility to, 2 6 trials
Nevoid basal cell carcinoma syndrome 5 trials
2 sub-types
- Basal cell nevus syndrome 1 0 trials
- Basal cell nevus syndrome 2 0 trials
Carney complex 4 trials
3 sub-types
- Carney complex - trismus - pseudocamptodactyly syndrome 0 trials
- Carney complex type 2 0 trials
- Carney complex, type 1 0 trials
Crouzon syndrome-acanthosis nigricans syndrome 4 trials
Multiple endocrine neoplasia type 2A 4 trials
Piebaldism 4 trials
Muscular dystrophy, limb-girdle, autosomal dominant 0 trials · 4 incl. sub-types
8 sub-types
Muckle-Wells syndrome 3 trials
Noonan syndrome with multiple lentigines 3 trials
3 sub-types
- LEOPARD syndrome 1 0 trials
- LEOPARD syndrome 2 0 trials
- LEOPARD syndrome 3 0 trials
Autosomal dominant polycystic liver disease 3 trials
5 sub-types
- SEC61B-related polycystic liver disease 0 trials
- Polycystic liver disease 1 0 trials
- Polycystic liver disease 2 0 trials
- Polycystic liver disease 3 with or without kidney cysts 0 trials
- Polycystic liver disease 4 with or without kidney cysts 0 trials
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 3 trials
Autosomal dominant Emery-Dreifuss muscular dystrophy 0 trials · 3 incl. sub-types
4 sub-types
- Emery-Dreifuss muscular dystrophy 2, autosomal dominant 3 trials
- Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 trials
- Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 trials
- Emery-Dreifuss muscular dystrophy 7, autosomal dominant 0 trials
Autosomal dominant intermediate Charcot-Marie-Tooth disease 0 trials · 3 incl. sub-types
8 sub-types
- Charcot-Marie-Tooth disease dominant intermediate D 0 trials · 3 incl. sub-types Sub-types →
- Charcot-Marie-Tooth disease dominant intermediate B 0 trials · 1 incl. sub-types Sub-types →
- Charcot-Marie-Tooth Disease, axonal, type 2GG 0 trials
- Charcot-Marie-Tooth disease dominant intermediate C 0 trials
- Charcot-Marie-Tooth disease dominant intermediate E 0 trials
- Charcot-Marie-Tooth disease dominant intermediate F 0 trials
- Charcot-Marie-Tooth disease, dominant intermediate A 0 trials
- Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain 0 trials
Birt-Hogg-Dube syndrome 2 trials
2 sub-types
- Birt-Hogg-Dube syndrome 1 0 trials
- Birt-Hogg-Dube syndrome 2 0 trials
Muir-Torre syndrome 2 trials
Autosomal dominant vibratory urticaria 2 trials
Hereditary retinoblastoma 2 trials
Multiple endocrine neoplasia type 2B 2 trials
Nail-patella syndrome 2 trials
Autosomal dominant nonsyndromic hearing loss 1 trial · 2 incl. sub-types
75 sub-types
- Autosomal dominant nonsyndromic hearing loss 9 1 trial
- Autosomal dominant auditory neuropathy 1 0 trials
- Autosomal dominant nonsyndromic hearing loss 1 0 trials
- Autosomal dominant nonsyndromic hearing loss 10 0 trials
- Autosomal dominant nonsyndromic hearing loss 11 0 trials
- Autosomal dominant nonsyndromic hearing loss 12 0 trials
- Autosomal dominant nonsyndromic hearing loss 13 0 trials
- Autosomal dominant nonsyndromic hearing loss 15 0 trials
- Autosomal dominant nonsyndromic hearing loss 16 0 trials
- Autosomal dominant nonsyndromic hearing loss 17 0 trials
- Autosomal dominant nonsyndromic hearing loss 18 0 trials
- Autosomal dominant nonsyndromic hearing loss 20 0 trials
- Autosomal dominant nonsyndromic hearing loss 21 0 trials
- Autosomal dominant nonsyndromic hearing loss 22 0 trials
- Autosomal dominant nonsyndromic hearing loss 23 0 trials
- Autosomal dominant nonsyndromic hearing loss 24 0 trials
- Autosomal dominant nonsyndromic hearing loss 25 0 trials
- Autosomal dominant nonsyndromic hearing loss 27 0 trials
- Autosomal dominant nonsyndromic hearing loss 28 0 trials
- Autosomal dominant nonsyndromic hearing loss 2A 0 trials
- Autosomal dominant nonsyndromic hearing loss 2B 0 trials
- Autosomal dominant nonsyndromic hearing loss 30 0 trials
- Autosomal dominant nonsyndromic hearing loss 31 0 trials
- Autosomal dominant nonsyndromic hearing loss 33 0 trials
- Autosomal dominant nonsyndromic hearing loss 36 0 trials
- Autosomal dominant nonsyndromic hearing loss 3A 0 trials
- Autosomal dominant nonsyndromic hearing loss 3B 0 trials
- Autosomal dominant nonsyndromic hearing loss 40 0 trials
- Autosomal dominant nonsyndromic hearing loss 41 0 trials
- Autosomal dominant nonsyndromic hearing loss 43 0 trials
- Autosomal dominant nonsyndromic hearing loss 44 0 trials
- Autosomal dominant nonsyndromic hearing loss 47 0 trials
- Autosomal dominant nonsyndromic hearing loss 48 0 trials
- Autosomal dominant nonsyndromic hearing loss 49 0 trials
- Autosomal dominant nonsyndromic hearing loss 4A 0 trials
- Autosomal dominant nonsyndromic hearing loss 4B 0 trials
- Autosomal dominant nonsyndromic hearing loss 5 0 trials
- Autosomal dominant nonsyndromic hearing loss 50 0 trials
- Autosomal dominant nonsyndromic hearing loss 51 0 trials
- Autosomal dominant nonsyndromic hearing loss 53 0 trials
- Autosomal dominant nonsyndromic hearing loss 54 0 trials
- Autosomal dominant nonsyndromic hearing loss 56 0 trials
- Autosomal dominant nonsyndromic hearing loss 58 0 trials
- Autosomal dominant nonsyndromic hearing loss 59 0 trials
- Autosomal dominant nonsyndromic hearing loss 6 0 trials
- Autosomal dominant nonsyndromic hearing loss 64 0 trials
- Autosomal dominant nonsyndromic hearing loss 65 0 trials
- Autosomal dominant nonsyndromic hearing loss 66 0 trials
- Autosomal dominant nonsyndromic hearing loss 67 0 trials
- Autosomal dominant nonsyndromic hearing loss 68 0 trials
- Autosomal dominant nonsyndromic hearing loss 69 0 trials
- Autosomal dominant nonsyndromic hearing loss 7 0 trials
- Autosomal dominant nonsyndromic hearing loss 70 0 trials
- Hearing loss, autosomal dominant 34, with or without inflammation 0 trials
- Hearing loss, autosomal dominant 37 0 trials
- Hearing loss, autosomal dominant 71 0 trials
- Hearing loss, autosomal dominant 72 0 trials
- Hearing loss, autosomal dominant 73 0 trials
- Hearing loss, autosomal dominant 74 0 trials
- Hearing loss, autosomal dominant 75 0 trials
- Hearing loss, autosomal dominant 76 0 trials
- Hearing loss, autosomal dominant 77 0 trials
- Hearing loss, autosomal dominant 78 0 trials
- Hearing loss, autosomal dominant 79 0 trials
- Hearing loss, autosomal dominant 80 0 trials
- Hearing loss, autosomal dominant 81 0 trials
- Hearing loss, autosomal dominant 82 0 trials
- Hearing loss, autosomal dominant 83 0 trials
- Hearing loss, autosomal dominant 84 0 trials
- Hearing loss, autosomal dominant 85 0 trials
- Hearing loss, autosomal dominant 86 0 trials
- Hearing loss, autosomal dominant 87 0 trials
- Hearing loss, autosomal dominant 88 0 trials
- Hearing loss, autosomal dominant 89 0 trials
- Hearing loss, autosomal dominant 90 0 trials
Autosomal dominant progressive external ophthalmoplegia 1 trial · 2 incl. sub-types
5 sub-types
Brooke-Spiegler syndrome 0 trials · 2 incl. sub-types
2 sub-types
- Familial cylindromatosis 2 trials
- Familial multiple trichoepithelioma 0 trials Sub-types →
Denys-Drash syndrome 1 trial
Duane-radial ray syndrome 1 trial
2 sub-types
- Okihiro syndrome due to 20q13 microdeletion 0 trials
- Okihiro syndrome due to a point mutation 0 trials
EEC syndrome 1 trial
2 sub-types
- Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 0 trials
- Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 0 trials
Timothy syndrome 1 trial
2 sub-types
- Timothy syndrome, classic type 0 trials · 1 incl. sub-types Sub-types →
- Timothy syndrome, atypical type 0 trials
Waardenburg syndrome 1 trial
5 sub-types
- Waardenburg syndrome type 1 1 trial
- Waardenburg syndrome type 2 1 trial Sub-types →
- Waardenburg syndrome type 3 0 trials
- Waardenburg syndrome, IIa 2F 0 trials
- Waardenburg-Shah syndrome 0 trials Sub-types →
Brain small vessel disease 2A, autosomal dominant 1 trial
Cherubism 1 trial
1 sub-type
- Al Gazali Khidr Prem Chandran syndrome 0 trials
Colorectal cancer, hereditary nonpolyposis, type 6 1 trial
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 1 trial
Gastric adenocarcinoma and proximal polyposis of the stomach 1 trial
Macrocephaly-autism syndrome 1 trial
Microcephalic osteodysplastic dysplasia, Saul-Wilson type 1 trial
Multiple cutaneous and mucosal venous malformations 1 trial
Proximal symphalangism 1 trial
2 sub-types
- Proximal symphalangism 1A 0 trials
- Symphalangism, proximal, 1B 0 trials
Trichorhinophalangeal syndrome type II 1 trial
ADULT syndrome 0 trials
ALG8-related autosomal dominant polycystic kidney and/or liver disease 0 trials
ALPL-related autosomal dominant hypophosphatasia 0 trials
1 sub-type
- Mild hypophosphatasia 0 trials
Alagille syndrome due to a JAG1 point mutation 0 trials
BMPR1A-related juvenile polyposis syndrome 0 trials
Beare-Stevenson cutis gyrata syndrome 0 trials
Birk-Barel syndrome 0 trials
Charcot-Marie-Tooth disease, demyelinating, type 1G 0 trials
Charcot-Marie-tooth disease, axonal, type 2DD 0 trials
Coffin-Siris syndrome 1 0 trials
Delpire-McNeill syndrome 0 trials
Ehlers-Danlos syndrome, classic type 0 trials
2 sub-types
- Ehlers-Danlos syndrome, classic type, 1 0 trials
- Ehlers-Danlos syndrome, classic type, 2 0 trials
FLNB-associated autosomal dominant filamin related bone disorder 0 trials
4 sub-types
- Boomerang dysplasia 0 trials
- Larsen syndrome 0 trials
- Atelosteogenesis type I 0 trials
- Atelosteogenesis type III 0 trials
Feingold syndrome 0 trials
2 sub-types
- Feingold syndrome type 1 0 trials
- Feingold syndrome type 2 0 trials
Flynn-Aird syndrome 0 trials
Frasier syndrome 0 trials
GUCY2D-related dominant retinopathy 0 trials
1 sub-type
- Choroidal dystrophy, central areolar, 1 0 trials
Holt-Oram syndrome 0 trials
1 sub-type
- Heart-hand syndrome type 3 0 trials
Houge-Janssens syndrome 2 0 trials
IMPG1-related dominant retinopathy 0 trials
1 sub-type
- Benign concentric annular macular dystrophy 0 trials
KINSSHIP syndrome 0 trials
LADD syndrome 0 trials
3 sub-types
- LADD syndrome 1 0 trials
- Lacrimoauriculodentodigital syndrome 2 0 trials
- Lacrimoauriculodentodigital syndrome 3 0 trials
LAMA5-related multisystemic syndrome 0 trials
MAX-related tumor predisposition 0 trials
MYH10-related neurodevelopmental disorder with congenital anomalies 0 trials
NOG-related symphalangism spectrum disorder 0 trials
5 sub-types
- Brachydactyly type B2 0 trials
- Multiple synostoses syndrome 1 0 trials
- Proximal symphalangism 1A 0 trials
- Stapes ankylosis with broad thumbs and toes 0 trials
- Tarsal-carpal coalition syndrome 0 trials
PCWH syndrome 0 trials
PROM1-related dominant retinopathy 0 trials
2 sub-types
- Stargardt disease 4 0 trials
- Retinal macular dystrophy type 2 0 trials
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 trials
2 sub-types
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation 0 trials
- Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion 0 trials
Pelger-Huet anomaly 0 trials
Pilarowski-Bjornsson syndrome 0 trials
RP1-related dominant retinopathy 0 trials
RPE65-related dominant retinopathy 0 trials
1 sub-type
- Retinitis pigmentosa 87 with choroidal involvement 0 trials
Rapp-Hodgkin syndrome 0 trials
TMEM127-related tumor predisposition 0 trials
Townes-Brocks syndrome 0 trials
2 sub-types
- Townes-Brocks syndrome 1 0 trials
- Townes-Brocks syndrome 2 0 trials
Treacher-Collins syndrome 0 trials
4 sub-types
- Treacher Collins syndrome 1 0 trials
- Treacher Collins syndrome 2 0 trials
- Treacher Collins syndrome 3 0 trials
- Treacher Collins syndrome 4 0 trials
Acroosteolysis dominant type 0 trials
Amelogenesis imperfecta type 1B 0 trials
Arthrogryposis, distal, type 2B2 0 trials
Arthrogryposis, distal, type 2B3 0 trials
Autosomal dominant Aarskog syndrome 0 trials
Autosomal dominant Alport syndrome 0 trials
Autosomal dominant Ehlers-Danlos syndrome, vascular type 0 trials
Autosomal dominant Kenny-Caffey syndrome 0 trials
Autosomal dominant Robinow syndrome 0 trials
3 sub-types
- Autosomal dominant Robinow syndrome 1 0 trials
- Autosomal dominant Robinow syndrome 2 0 trials
- Autosomal dominant Robinow syndrome 3 0 trials
Autosomal dominant brachyolmia 0 trials
Autosomal dominant cataract 0 trials
1 sub-type
- Autosomal dominant non-nuclear cataract 0 trials
Autosomal dominant centronuclear myopathy 0 trials
Autosomal dominant chondrodysplasia punctata 0 trials
2 sub-types
- Chondrodysplasia punctata, brachytelephalangic, autosomal 0 trials
- Chondrodysplasia punctata, tibial-metacarpal type 0 trials
Autosomal dominant coarctation of aorta 0 trials
Autosomal dominant complex spastic paraplegia 0 trials
13 sub-types
- Autosomal dominant spastic paraplegia type 9 0 trials Sub-types →
- Hereditary spastic paraplegia 17 0 trials
- Hereditary spastic paraplegia 29 0 trials
- Hereditary spastic paraplegia 36 0 trials
- Hereditary spastic paraplegia 38 0 trials
- Spastic paraplegia 18a, autosomal dominant 0 trials
- Spastic paraplegia, intellectual disability, nystagmus, and obesity 0 trials
- Spastic paraplegia-Paget disease of bone syndrome 0 trials
- Spastic paraplegia-epilepsy-intellectual disability syndrome 0 trials
- Spastic paraplegia-facial-cutaneous lesions syndrome 0 trials
- Spastic paraplegia-nephritis-deafness syndrome 0 trials
- Spastic paraplegia-neuropathy-poikiloderma syndrome 0 trials
- Spastic paraplegia-precocious puberty syndrome 0 trials
Autosomal dominant cutis laxa 0 trials
3 sub-types
- Cutis laxa, autosomal dominant 1 0 trials
- Cutis laxa, autosomal dominant 2 0 trials
- Cutis laxa, autosomal dominant 3 0 trials
Autosomal dominant distal myopathy 0 trials
15 sub-types
- Finnish upper limb-onset distal myopathy 0 trials
- KLHL9-related early-onset distal myopathy 0 trials
- TARDBP-related predominantly upper-limb distal myopathy 0 trials
- Adult-onset distal myopathy due to VCP mutation 0 trials
- Asymetric thumb-handgrip weakness-distal myopathy 0 trials
- Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy 0 trials
- Distal myopathy with posterior leg and anterior hand involvement 0 trials
- Distal myopathy with vocal cord weakness 0 trials
- Distal myopathy, Tateyama type 0 trials
- Distal myopathy, Welander type 0 trials
- Myofibrillar myopathy 2 0 trials
- Myofibrillar myopathy 3 0 trials
- Myofibrillar myopathy 4 0 trials
- Myopathy, myofibrillar, 9, with early respiratory failure 0 trials
- Tibial muscular dystrophy 0 trials
Autosomal dominant distal renal tubular acidosis 0 trials
Autosomal dominant epidermolytic ichthyosis 0 trials
2 sub-types
- Annular epidermolytic ichthyosis 0 trials Sub-types →
- Epidermolytic hyperkeratosis 2A, autosomal dominant 0 trials
Autosomal dominant hypohidrotic ectodermal dysplasia 0 trials
2 sub-types
- Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 0 trials
- Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant 0 trials
Autosomal dominant hypophosphatemic rickets 0 trials
Autosomal dominant ichthyosis vulgaris 0 trials
2 sub-types
- Mild ichthyosis vulgaris 0 trials
- Severe ichthyosis vulgaris 0 trials
Autosomal dominant keratitis 0 trials
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome 0 trials
Autosomal dominant myoglobinuria 0 trials
Autosomal dominant nebulin-related myopathy 0 trials
Autosomal dominant oculocutaneous albinism 0 trials
Autosomal dominant omodysplasia 0 trials
Autosomal dominant osteopetrosis 0 trials
4 sub-types
- Autosomal dominant osteopetrosis 1 0 trials
- Autosomal dominant osteopetrosis 2 0 trials
- Osteopetrosis, autosomal dominant 3 0 trials
- Osteopetrosis, autosomal dominant 4 0 trials
Autosomal dominant popliteal pterygium syndrome 0 trials
Autosomal dominant primary microcephaly 0 trials
3 sub-types
- Microcephaly 18, primary, autosomal dominant 0 trials
- Microcephaly 26, primary, autosomal dominant 0 trials
- Microcephaly 27, primary, autosomal dominant 0 trials
Autosomal dominant proximal renal tubular acidosis 0 trials
Autosomal dominant rhegmatogenous retinal detachment 0 trials
Autosomal dominant severe congenital neutropenia 0 trials
3 sub-types
- Neutropenia, lethal congenital, with eosinophilia 0 trials
- Neutropenia, severe congenital, 1, autosomal dominant 0 trials
- Neutropenia, severe congenital, 2, autosomal dominant 0 trials
Autosomal dominant sideroblastic anemia 0 trials
Autosomal dominant spastic ataxia 0 trials
3 sub-types
- Spastic ataxia 1 0 trials
- Spastic ataxia 11, autosomal dominant 0 trials
- Spastic ataxia 7 0 trials
Autosomal dominant spondylocostal dysostosis 0 trials
Autosomal dominant titinopathy 0 trials
4 sub-types
- Dilated cardiomyopathy 1G 0 trials
- Hypertrophic cardiomyopathy 9 0 trials
- Myopathy, myofibrillar, 9, with early respiratory failure 0 trials
- Tibial muscular dystrophy 0 trials
Blepharocheilodontic syndrome 0 trials
3 sub-types
- Martinez Monasterio Pinheiro syndrome 0 trials
- Blepharocheilodontic syndrome 1 0 trials
- Blepharocheilodontic syndrome 2 0 trials
Blepharophimosis, ptosis, and epicanthus inversus syndrome 0 trials
5 sub-types
Branchio-oto-renal syndrome 0 trials
2 sub-types
- Branchiootorenal syndrome 1 0 trials
- Branchiootorenal syndrome 2 0 trials
Branchiooculofacial syndrome 0 trials
Calcaneonavicular coalition 0 trials
Cataract-aberrant oral frenula-growth delay syndrome 0 trials
Cochleosaccular degeneration-cataract syndrome 0 trials
Colorectal cancer, hereditary nonpolyposis, type 7 0 trials
Congenital stationary night blindness autosomal dominant 3 0 trials
Diffuse nonepidermolytic palmoplantar keratoderma 0 trials
Distal arthrogryposis type 2B1 0 trials
Dyskeratosis congenita, autosomal dominant 2 0 trials
Dyskeratosis congenita, autosomal dominant 3 0 trials
Dyskeratosis congenita, autosomal dominant 6 0 trials
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss 0 trials
Familial antiphospholipid syndrome 0 trials
Fatty acyl-CoA reductase 1 upregulation 0 trials
Generalized juvenile polyposis/juvenile polyposis coli 0 trials
Hand-foot-genital syndrome 0 trials
Heart-hand syndrome, Slovenian type 0 trials
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome 0 trials
Hyperkeratosis-hyperpigmentation syndrome 0 trials
Hypopigmentation-punctate palmoplantar keratoderma syndrome 0 trials
Inclusion body myopathy and brain white matter abnormalities 0 trials
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 0 trials
Intellectual disability, autosomal dominant 14 0 trials
Intellectual disability, autosomal dominant 15 0 trials
Intellectual disability, autosomal dominant 16 0 trials
Intellectual disability, autosomal dominant 29 0 trials
Intellectual disability, autosomal dominant 30 0 trials
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 trials
Isolated congenital adermatoglyphia 0 trials
Juvenile cataract-microcornea-renal glucosuria syndrome 0 trials
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 0 trials
Mandibulofacial dysostosis-microcephaly syndrome 0 trials
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 trials
Monilethrix 0 trials
3 sub-types
- Monilethrix-1 0 trials
- Monilethrix-2 0 trials
- Monilethrix-3 0 trials
Multiple endocrine neoplasia type 4 0 trials
Neuronopathy, distal hereditary motor, autosomal dominant 0 trials
11 sub-types
- Distal hereditary motor neuropathy type 2 0 trials Sub-types →
- Distal hereditary motor neuropathy type 7 0 trials Sub-types →
- Hereditary spastic paraplegia 17 0 trials
- Myopathy, myofibrillar, 13, with rimmed vacuoles 0 trials
- Neuronopathy, distal hereditary motor, autosomal dominant 1 0 trials
- Neuronopathy, distal hereditary motor, autosomal dominant 10 0 trials
- Neuronopathy, distal hereditary motor, autosomal dominant 11 0 trials
- Neuronopathy, distal hereditary motor, autosomal dominant 15 0 trials
- Neuronopathy, distal hereditary motor, autosomal dominant 8 0 trials
- Neuronopathy, distal hereditary motor, type 5 0 trials Sub-types →
- Neuronopathy, distal hereditary motor, type 9 0 trials
Palmoplantar keratoderma-spastic paralysis syndrome 0 trials
Pheochromocytoma/paraganglioma syndrome 1 0 trials
Pheochromocytoma/paraganglioma syndrome 2 0 trials
Pheochromocytoma/paraganglioma syndrome 3 0 trials
Pheochromocytoma/paraganglioma syndrome 4 0 trials
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 trials
Renal coloboma syndrome 0 trials
Retinoschisis, autosomal dominant 0 trials
Scapuloperoneal spinal muscular atrophy, autosomal dominant 0 trials
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome 0 trials
Spastic paraplegia 30A, autosomal dominant 0 trials
Spondyloepimetaphyseal dysplasia with multiple dislocations 0 trials
Spondyloepiphyseal dysplasia tarda, autosomal dominant 0 trials
Thanatophoric dysplasia type 1 0 trials
Thrombophilia due to protein S deficiency, autosomal dominant 0 trials
Trichorhinophalangeal syndrome type I 0 trials

Most studied deeper sub-types

Machado-Joseph disease (11) Spinocerebellar ataxia type 1 (10) Spinocerebellar ataxia type 2 (10) Spinocerebellar ataxia type 6 (9) Intellectual developmental disorder 61 (5) Dentatorubral-pallidoluysian atrophy (4) Severe intellectual disability-progressive spastic diplegia syndrome (4) Spinocerebellar ataxia type 10 (4) Spinocerebellar ataxia type 8 (4) Charcot-Marie-Tooth disease type 1B (3) Charcot-Marie-Tooth disease type 2J (2) Intellectual disability-severe speech delay-mild dysmorphism syndrome (2) KBG syndrome (2) Machado-Joseph disease type 3 (2) Mowat-Wilson syndrome (2) Spinocerebellar ataxia type 27 (2) Autism spectrum disorder due to AUTS2 deficiency (1) Autosomal dominant Charcot-Marie-Tooth disease type 2M (1) Bohring-Opitz syndrome (1) Charcot-Marie-Tooth disease type 2I (1)

Including sub-types (699) Tagged with Autosomal dominant disease (0)

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