Search Ontology:
Human Disease

Temple syndrome

Term ID
DOID:0111713
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
  • MIM:616222
  • NCI:C120409
  • ORDO:254516
  • SNOMEDCT_US_2023_03_01:778012003
  • UMLS_CUI:C4015558
Ontology
Human Disease   ( DOID:0111713 )
Relationships
is a type of
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Genes Involved
Zebrafish Models