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Gender, Sex, and Sexual Orientation Ontology
Last uploaded:
September 8, 2022
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| Preferred Name | Cri-Du-Chat syndrome | |
| Synonyms |
Cri-du-Chat syndrome Cri du chat syndrome 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 |
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