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Metadata
ID DOID:12580
Name Cri-Du-Chat 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.
https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome, https://www.genome.gov/Genetic-Disorders/Cri-du-Chat
Xrefs

GARD:6213

ICD10CM:Q93.4

ICD9CM:758.31

MESH:D003410

NCI:C34518

OMIM:123450

SNOMEDCT_US_2023_03_01:70173007

UMLS_CUI:C0010314

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

5p deletion syndrome [EXACT]

5p partial monosomy syndrome [EXACT]

chromosome 5 short arm deletion syndrome [EXACT]

chromosome 5p deletion syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a chromosomal deletion syndrome

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