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 deletion syndrome, 5p partial monosomy syndrome, 5p partial monosomy syndrome (disorder), Cri-du-chat syndrome, chromosome 5 short arm deletion syndrome, chromosome 5p deletion syndrome
|OMIM:123450 - CRI-DU-CHAT SYNDROME|
|MONDO:0007404 - Cri-du-chat syndrome|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : ctnnd2
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD