OBO ID: DOID:12580
Term Name: Cri-Du-Chat syndrome Search Ontology:
Synonyms:
  • 5p deletion syndrome
  • 5p partial monosomy syndrome
  • chromosome 5 short arm deletion syndrome
  • chromosome 5p deletion syndrome
Definition: 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. (2)
References:
  • GARD:6213
  • ICD10CM:Q93.4
  • ICD9CM:758.31
  • MESH:D003410
  • NCI:C34518
  • OMIM:123450
  • SNOMEDCT_US_2023_03_01:70173007
  • UMLS_CUI:C0010314
Ontology: Human Disease   ( DOID:12580 )
Relationships
is a type of:
OTHER Cri-Du-Chat syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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