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Metadata
ID DOID:0060173
Name Timothy syndrome
Definition An autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of CACNA1C on chromosome 12p13.33.
http://www.ncbi.nlm.nih.gov/books/NBK1403/, https://ghr.nlm.nih.gov/condition/timothy-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/15863612
Xrefs

ICD10CM:G72.3

MESH:C536962

OMIM:601005

ORDO:65283

ORDO:768

Alternateids

DOID:0110649

Parent Relationships

is_a autosomal dominant disease

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