| Metadata | |
|---|---|
| ID | DOID:0111713 |
| Name | Temple syndrome |
| Definition | A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32. https://www.ncbi.nlm.nih.gov/pubmed/18454453, https://www.ncbi.nlm.nih.gov/pubmed/24891339 |
| Xrefs |
SNOMEDCT_US_2023_03_01:778012003 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Parent Relationships |
is_a syndrome |