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FNS-Harmony
Last uploaded:
November 2, 2023
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| Preferred Name | Cri-Du-Chat syndrome | |
| Synonyms |
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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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_12580 |
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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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| label |
Cri-Du-Chat syndrome
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| prefixIRI |
DOID:12580
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| prefLabel |
Cri-Du-Chat syndrome
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