| Metadata | |
|---|---|
| ID | DOID:0060173 |
| Name | Timothy syndrome |
| Definition | A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene. https://ghr.nlm.nih.gov/condition/timothy-syndrome, http://www.ncbi.nlm.nih.gov/books/NBK1403/, https://www.ncbi.nlm.nih.gov/pubmed/15863612 |
| Xrefs | |
| SKOS |
broadMatch UMLS_CUI:C1832916 |
| Subsets |
DO_rare_slim |
| Synonyms |
long QT syndrome with syndactyly [RELATED] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has phenotype some Neurodevelopmental abnormality has material basis in some autosomal dominant inheritance |