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DO Term : Temple syndrome [DOID:0111713] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • UMLS_CUI:C4015558,
  • ORDO:254516,
  • 616222,
  • SNOMEDCT_US_2023_03_01:778012003,
  • OMIM:616222,
  • NCI:C120409
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents