| Metadata | |
|---|---|
| ID | DOID:0070805 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070805 Copy |
| Name | Muggenthaler-Chowdhury-Chioza syndrome |
| 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. https://pubmed.ncbi.nlm.nih.gov/28081210/, https://pubmed.ncbi.nlm.nih.gov/34906488/ |
| Xrefs |
SNOMEDCT_US_2026_03_01:1187039001 |
| SKOS |
exactMatch MIM:621063 exactMatch ORDO:508476 exactMatch UMLS_CUI:C5975586 broadMatch ICD10CM:Q87.8 |
| Subsets |
DO_rare_slim |
| Synonyms |
MCCS [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |