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DOID:12580 - Cri-Du-Chat syndrome
Disease Ontology 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.
Synonyms: 5p partial monosomy syndrome (disorder), chromosome 5p deletion syndrome, Cri-du-chat syndrome, 5p deletion syndrome, 5p partial monosomy syndrome, chromosome 5 short arm deletion syndrome
Echinobase Genes
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| MIM:123450 - cri-du-chat syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
chromosomal deletion syndrome (is_a),
syndrome (is_a)