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bilateral microtia-deafness-cleft palate syndrome
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.
Uniprot Description Microtia is a congenital deformity of the outer ear that is small and abnormally shaped. In classic microtia, the pinna is essentially absent, except for a vertical sausage-shaped skin remnant. The superior aspect of this sausage-shaped skin remnant consists of underlying unorganized cartilage, and the inferior aspect of this remnant consists of a relatively well-formed lobule.
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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.
MESH:C567359
OMIM:612290
Orphanet:140963
UMLS:C2676772
MONDO:0012854
High level summary of knowledge for a disease, including descriptions and datasource references.