Category:Autosomal dominant disorders
Appearance
For more information on autosomal dominant heredity, see the articles Autosome and Dominance (genetics).
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Subcategories
This category has the following 2 subcategories, out of 2 total.
R
- RASopathies (10 P)
T
Pages in category "Autosomal dominant disorders"
The following 200 pages are in this category, out of approximately 210 total. This list may not reflect recent changes.
(previous page) (next page)A
- Ablepharon macrostomia syndrome
- Accessory deep peroneal nerve
- Achondrogenesis type 2
- Acropectoral syndrome
- Acute intermittent porphyria
- Adermatoglyphia
- ADNP syndrome
- Albright's hereditary osteodystrophy
- Ankylosing vertebral hyperostosis with tylosis
- Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
- Aphalangy-syndactyly-microcephaly syndrome
- Arakawa's syndrome II
- Aromatase excess syndrome
- Autosomal dominant cerebellar ataxia
- Autosomal dominant Charcot–Marie–Tooth disease type 2 with giant axons
- Autosomal dominant GTP cyclohydrolase I deficiency
- Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
- Autosomal dominant nocturnal frontal lobe epilepsy
- Autosomal dominant partial epilepsy with auditory features
- Autosomal dominant polycystic kidney disease
- Axenfeld–Rieger syndrome
- Axial osteosclerosis
B
- Bainbridge–Ropers syndrome
- Barber–Say syndrome
- Beck–Fahrner syndrome
- Benign hereditary chorea
- BENTA disease
- Bethlem myopathy
- Birt–Hogg–Dubé syndrome
- Blepharophimosis, ptosis, epicanthus inversus syndrome
- Blepharoptosis-myopia-ectopia lentis syndrome
- Boomerang dysplasia
- Bosch–Boonstra–Schaaf optic atrophy syndrome
- Brachydactyly-long thumb syndrome
- Branchio-oto-renal syndrome
- Buschke–Ollendorff syndrome
C
- Calvarial doughnut lesions-bone fragility syndrome
- Camptodactyly-taurinuria syndrome
- Camurati–Engelmann disease
- CAPOS syndrome
- Central core disease
- Cerebro-costo-mandibular syndrome
- Cochleosaccular degeneration with progressive cataracts
- Cohen–Gibson syndrome
- Collagen disease
- Collagenopathy, types II and XI
- Collins–Pope syndrome
- Coloboma of macula-brachydactyly type B syndrome
- Congenital distal spinal muscular atrophy
- Congenital stromal corneal dystrophy
- Cornea plana 1
- Costello syndrome
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome
- Craniosynostosis, Philadelphia type
- Currarino syndrome
- Cyprus facial neuromusculoskeletal syndrome
- Czech dysplasia, metatarsal type
D
F
- Familial amyloid polyneuropathy
- Familial atrial fibrillation
- Familial cutaneous collagenoma
- Familial disseminated comedones without dyskeratosis
- Familial hypercholesterolemia
- Familial male-limited precocious puberty
- Familial opposable triphalangeal thumbs duplication
- Feingold syndrome
- Felty's syndrome
- Fibular aplasia-ectrodactyly syndrome
- Flynn–Aird syndrome
G
H
- Hagemoser–Weinstein–Bresnick syndrome
- Hajdu–Cheney syndrome
- Haploinsufficiency of A20
- Hawkinsinuria
- Hay–Wells syndrome
- Heart-hand syndrome, Spanish type
- Hemochromatosis type 4
- Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
- Hereditary elliptocytosis
- Hereditary hemorrhagic telangiectasia
- Hereditary mucoepithelial dysplasia
- Hereditary neurocutaneous angioma
- Hereditary spherocytosis
- Holt–Oram syndrome
- Huntington's disease
- Huntington's disease-like syndrome
- Hyperinsulinism-hyperammonemia syndrome
- Hypertrophic cardiomyopathy
- Hypoalphalipoproteinemia
- Hypochondroplasia
- Hypodysfibrinogenemia
L
M
- Malan syndrome
- Marfan syndrome
- Marshall syndrome
- Marsili syndrome
- Medullary cystic kidney disease
- Menke-Hennekam syndrome
- Metachondromatosis
- Miller–Dieker syndrome
- MOMO syndrome
- Monilethrix
- MonoMAC
- Multiple endocrine neoplasia
- Multiple endocrine neoplasia type 1
- Multiple endocrine neoplasia type 2
- Multiple endocrine neoplasia type 2B
- Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
- Myelokathexis
- Myotonic dystrophy
N
P
- Pachyonychia congenita
- Pallister–Hall syndrome
- Palmoplantar keratoderma with deafness
- PAPA syndrome
- Papillorenal syndrome
- Parastremmatic dwarfism
- Pashayan syndrome
- Pelger–Huët anomaly
- Peutz–Jeghers syndrome
- Piebaldism
- Platyspondylic lethal skeletal dysplasia, Torrance type
- Polydactyly
- Polymerase proofreading-associated polyposis
- Popliteal pterygium syndrome
- Porphyria cutanea tarda
- Pseudoachondroplasia
R
S
- Saethre–Chotzen syndrome
- Scalp defects-postaxial polydactyly syndrome
- Schmitt Gillenwater Kelly syndrome
- Severe congenital neutropenia
- Severe intellectual disability-progressive spastic diplegia syndrome
- Short QT syndrome
- Singleton Merten syndrome
- Spastic paraplegia 6
- Spastic paraplegia 31
- Spinal muscular atrophy with lower extremity predominance 1
- Spinal muscular atrophy with lower extremity predominance 2A
- Spinal muscular atrophy with lower extremity predominance 2B
- Spinocerebellar ataxia
- Spinocerebellar ataxia type 1
- Spinocerebellar ataxia type 6
- Split hand split foot-nystagmus syndrome
- Spondyloepimetaphyseal dysplasia, Strudwick type
- Spondyloepiphyseal dysplasia congenita
- Spondyloperipheral dysplasia
- St. Helena familial genu valgum
- Stickler syndrome
- Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
- SYNGAP1-related intellectual disability
- SYT1-associated neurodevelopmental disorder