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Human Disease Ontology
Last uploaded:
November 27, 2024
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| Preferred Name | Cri-Du-Chat syndrome | |
| Synonyms |
5p partial monosomy syndrome chromosome 5p deletion syndrome 5p deletion syndrome chromosome 5 short arm deletion syndrome |
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| Definitions |
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. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_12580 |
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| comment |
OMIM mapping confirmed by DO. [SN].
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| database_cross_reference |
UMLS_CUI:C0010314 MESH:D003410 SNOMEDCT_US_2023_03_01:70173007 ICD10CM:Q93.4 ICD9CM:758.31 GARD:6213 MIM:123450 NCI:C34518
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| 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.
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| has exact synonym |
5p partial monosomy syndrome chromosome 5p deletion syndrome 5p deletion syndrome chromosome 5 short arm deletion syndrome
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| has_obo_namespace |
disease_ontology
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| id |
DOID:12580
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| in_subset | ||
| label |
Cri-Du-Chat syndrome
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| notation |
DOID:12580
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| prefLabel |
Cri-Du-Chat syndrome
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| subClassOf |
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