Search Ontology:
Human Disease

Cri-Du-Chat syndrome

Term ID
DOID:12580
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
  • MIM:123450
  • NCI:C34518
  • SNOMEDCT_US_2023_03_01:70173007
  • UMLS_CUI:C0010314
Ontology
Human Disease   ( DOID:12580 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models