Metadata | |
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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 |