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autosomal dominant disease
Subclasses
Autosomal dominant leukodystrophy with autonomic disease
? TBD
Medical condition
Hereditary breast–ovarian cancer syndrome
? TBD
Medical condition
Howel–Evans syndrome
? TBD
Medical condition
Hereditary multiple exostoses
? TBD
Rare skeletal disorder
Treacher Collins syndrome
? TBD
Human genetic disorder
Li–Fraumeni syndrome
? TBD
Autosomal dominant cancer syndrome
focal segmental glomerulosclerosis 2
? TBD
focal segmental glomerulosclerosis that has material basis in a mutation of TRPC6 on chromosome 11q22.1
DiGeorge syndrome
? TBD
Medical condition caused by chromosomal abnormality
Brown–Vialetto–Van Laere syndrome
? TBD
Medical condition
Hereditary diffuse gastric cancer
? TBD
Medical condition
Multiple endocrine neoplasia type 1
? TBD
Medical condition
Noonan syndrome with multiple lentigines
? TBD
Rare autosomal dominant multi-system genetic condition
Perry syndrome
? TBD
Human disease
Rubinstein–Taybi syndrome
? TBD
Rare genetic condition
focal segmental glomerulosclerosis 8
? TBD
focal segmental glomerulosclerosis that has material basis in an autosomal dominant mutation of ANLN on chromosome 7p14.2
Spinocerebellar ataxia
? TBD
Progressive neurological disease
Williams syndrome
? TBD
Genetic disorder
Alexander disease
? TBD
Rare genetic disorder of the white matter of the brain
familial medullary thyroid carcinoma
? TBD
thyroid medullary carcinoma that has material basis in autosomal dominant inheritance
Multiple endocrine neoplasia type 2
? TBD
Medical condition
Larsen syndrome
? TBD
Congenital disorder
Nevoid basal-cell carcinoma syndrome
? TBD
Medical condition
focal segmental glomerulosclerosis 7
? TBD
focal segmental glomerulosclerosis that has material basis in an autosomal dominant mutation of PAX2 on chromosome 10q24.31
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
? TBD
Human disease
overhydrated hereditary stomatocytosis
? TBD
human disease
focal segmental glomerulosclerosis 5
? TBD
focal segmental glomerulosclerosis that has material basis in an autosomal dominant mutation of INF2 on chromosome 14q32.33
Hereditary hemorrhagic telangiectasia
? TBD
Genetic disorder affecting blood vessel development
MonoMAC
? TBD
Medical condition
autosomal dominant non-syndromic intellectual disability
? TBD
non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern
Maturity-onset diabetes of the young
? TBD
Medical condition