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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

NCI:C120409

OMIM:616222

ORDO:254516

SNOMEDCT_US_2020_09_01:778012003

UMLS_CUI:C4015558

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is_a syndrome

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