FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Cri-Du-Chat syndrome ID (Ontology) DOID:12580 (Human Disease)
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.
Also Known As "5p deletion syndrome" ; "5p partial monosomy syndrome" ; "chromosome 5 short arm deletion syndrome" (for all, see Synonyms field below)
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chromosomal disease
 |__chromosomal deletion syndrome__
disease                            |
 |__syndrome_______________________|
                                   Cri-Du-Chat syndrome
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Is a chromosomal deletion syndrome
syndrome
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Synonyms
  • "5p deletion syndrome" EXACT
    "5p partial monosomy syndrome" EXACT
    "chromosome 5 short arm deletion syndrome" EXACT
    "chromosome 5p deletion syndrome" EXACT
Secondary IDs
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GARD:6213
ICD10CM:Q93.4
ICD9CM:758.31
MESH:D003410
MIM:123450
NCI:C34518
SNOMEDCT_US_2023_03_01:70173007
UMLS_CUI:C0010314