Preferred Name |
Cri-Du-Chat syndrome |
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Synonyms |
Cri-du-Chat syndrome |
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Definitions |
An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, intellectual disability, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-). |
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ID |
http://purl.obolibrary.org/obo/GSSO_006994 |
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definition |
An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, intellectual disability, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-). |
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Disease Ontology ID | ||
has database cross reference | ||
has exact synonym |
Cri-du-Chat syndrome Cri du chat syndrome Cri-du-chat syndrome |
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has synonym |
5pā syndrome chromosome 5p deletion syndrome Lejeune's syndrome chromosome 5 short arm deletion syndrome |
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ICD-9-CM |
758.31 |
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label |
Cri-Du-Chat syndrome |
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Medical Dictionary for Regulatory Activities ID | ||
MeSH Descriptor ID | ||
NCI Thesaurus ID | ||
prefixIRI |
GSSO:006994 |
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prefLabel |
Cri-Du-Chat syndrome |
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subClassOf |