FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term Temple syndrome ID (Ontology) DOID:0111713 (Human Disease)
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.
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       |__Temple syndrome
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MIM:616222
NCI:C120409
ORDO:254516
SNOMEDCT_US_2023_03_01:778012003
UMLS_CUI:C4015558