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Summary Literature (0)
DOID:0060225 - 3MC syndrome


Disease Ontology Definition:A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes.

Synonyms: craniofacial-ulnar-renal syndrome, oculopalatoskeletal syndrome

In OMIM:
OMIM:265050 - 3MC SYNDROME 2; 3MC2

In Mondo Disease Ontology:
MONDO:0017398 - 3MC syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : colec10, colec11, masp1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): syndrome (is_a)