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DO Term : Cri-Du-Chat syndrome [DOID:12580] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:70173007,
  • 5p partial monosomy syndrome,
  • 123450,
  • chromosome 5 short arm deletion syndrome,
  • UMLS_CUI:C0010314,
  • ICD9CM:758.31,
  • GARD:6213,
  • chromosome 5p deletion syndrome,
  • 5p deletion syndrome,
  • ICD10CM:Q93.4,
  • OMIM:123450,
  • NCI:C34518,
  • MESH:D003410
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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