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3MC syndrome 1
Disease Summary
Associated Targets (2)
Tchem
1
Tbio
1
Mondo Description Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene.
Uniprot Description A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0060575
EFO:1001978
OMIM:257920
UMLS:C0796059
MONDO:0009770
High level summary of knowledge for a disease, including descriptions and datasource references.