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Disease Ontology Browser
Muggenthaler-Chowdhury-Chioza syndrome (DOID:0070805)
Alliance: disease page
Synonyms: MCCS
Alt IDs: OMIM:621063, ICD10CM:Q87.8, ORDO:508476, UMLS_CUI:C5568767, UMLS_CUI:C5975586
Definition: A syndrome characterized by craniofacial dysmorphism, most consistently hypertelorism and a broad flat nose, myopia, and variable additional features including congenital cardiac anomalies, orofacial clefting, and hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the HYAL2 gene on chromosome 3p21.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
09/01/2026
MGI 6.24 		The Jackson Laboratory