OBO ID: DOID:0111713
Term Name: Temple syndrome Search Ontology:
Synonyms:
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. (2)
References:
  • NCI:C120409
  • OMIM:616222
  • ORDO:254516
  • SNOMEDCT_US_2023_03_01:778012003
  • UMLS_CUI:C4015558
Ontology: Human Disease   ( DOID:0111713 )
Relationships
is a type of:
OTHER Temple syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None