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autosomal dominant disease
Subclasses
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
Hereditary hemorrhagic telangiectasia
? TBD
Genetic disorder affecting blood vessel development
overhydrated hereditary stomatocytosis
? TBD
human disease
Multiple endocrine neoplasia type 2
? TBD
Medical condition
Williams syndrome
? TBD
Genetic disorder
Perry syndrome
? TBD
Human disease
Multiple endocrine neoplasia type 1
? TBD
Medical condition
Brown–Vialetto–Van Laere syndrome
? TBD
Medical condition
DiGeorge syndrome
? TBD
Medical condition caused by chromosomal abnormality
focal segmental glomerulosclerosis 2
? TBD
focal segmental glomerulosclerosis that has material basis in a mutation of TRPC6 on chromosome 11q22.1
Li–Fraumeni syndrome
? TBD
Autosomal dominant cancer syndrome
Treacher Collins syndrome
? TBD
Human genetic disorder
Hereditary multiple exostoses
? TBD
Rare skeletal disorder
Howel–Evans syndrome
? TBD
Medical condition
Autosomal dominant leukodystrophy with autonomic disease
? TBD
Medical condition
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
focal segmental glomerulosclerosis 5
? TBD
focal segmental glomerulosclerosis that has material basis in an autosomal dominant mutation of INF2 on chromosome 14q32.33
focal segmental glomerulosclerosis 7
? TBD
focal segmental glomerulosclerosis that has material basis in an autosomal dominant mutation of PAX2 on chromosome 10q24.31
familial medullary thyroid carcinoma
? TBD
thyroid medullary carcinoma that has material basis in autosomal dominant inheritance
Rubinstein–Taybi syndrome
? TBD
Rare genetic condition
Noonan syndrome with multiple lentigines
? TBD
Rare autosomal dominant multi-system genetic condition
Hereditary breast–ovarian cancer syndrome
? TBD
Medical condition