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autosomal dominant disease
Subclasses
Paroxysmal extreme pain disorder
? TBD
Rare disorder of abnormal pain sensation
Costello syndrome
? TBD
Medical condition
Central hypoventilation syndrome
? TBD
Medical condition
Tuberous sclerosis
? TBD
Genetic condition causing non-cancerous tumours
Miller–Dieker syndrome
? TBD
Genetic disorder
Hereditary nonpolyposis colorectal cancer
? TBD
Autosomal dominant genetic condition associated with a high risk of cancer in the colon
Progeria
? TBD
Genetic disorder that causes early aging
Familial male-limited precocious puberty
? TBD
Medical condition
Familial amyloid polyneuropathy
? TBD
Medical condition
Fibrodysplasia ossificans progressiva
? TBD
Disease in which fibrous connective tissue turns into bone
Maturity-onset diabetes of the young
? TBD
Medical condition
autosomal dominant non-syndromic intellectual disability
? TBD
non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern
MonoMAC
? TBD
Medical condition
Hereditary hemorrhagic telangiectasia
? TBD
Genetic disorder affecting blood vessel development
focal segmental glomerulosclerosis 5
? TBD
focal segmental glomerulosclerosis that has material basis in an autosomal dominant mutation of INF2 on chromosome 14q32.33
overhydrated hereditary stomatocytosis
? TBD
human disease
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
? TBD
Human disease
focal segmental glomerulosclerosis 7
? TBD
focal segmental glomerulosclerosis that has material basis in an autosomal dominant mutation of PAX2 on chromosome 10q24.31
Nevoid basal-cell carcinoma syndrome
? TBD
Medical condition
Larsen syndrome
? TBD
Congenital disorder
Multiple endocrine neoplasia type 2
? TBD
Medical condition
familial medullary thyroid carcinoma
? TBD
thyroid medullary carcinoma that has material basis in autosomal dominant inheritance
Alexander disease
? TBD
Rare genetic disorder of the white matter of the brain
Williams syndrome
? TBD
Genetic disorder
Spinocerebellar ataxia
? TBD
Progressive neurological disease
focal segmental glomerulosclerosis 8
? TBD
focal segmental glomerulosclerosis that has material basis in an autosomal dominant mutation of ANLN on chromosome 7p14.2
Rubinstein–Taybi syndrome
? TBD
Rare genetic condition
Perry syndrome
? TBD
Human disease
Noonan syndrome with multiple lentigines
? TBD
Rare autosomal dominant multi-system genetic condition
Multiple endocrine neoplasia type 1
? TBD
Medical condition