About: Cri-Du-Chat syndrome

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About: Cri-Du-Chat syndrome Goto Sponge Distinct Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	chromosomal deletion syndrome syndrome nodeID://b50948481
label	Cri-Du-Chat syndrome
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:12580
database_cross_reference	GARD:6213 ICD10CM:Q93.4 ICD9CM:758.31 MESH:D003410 NCI:C34518 OMIM:123450 SNOMEDCT_US_2021_09_01:70173007 UMLS_CUI:C0010314
has_exact_synonym	5p deletion syndrome (en) 5p partial monosomy syndrome (en) Cri-du-chat syndrome (en) chromosome 5 short arm deletion syndrome (en) chromosome 5p deletion syndrome (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50948486

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