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bilateral microtia-deafness-cleft palate syndrome

Disease Summary
Associated Targets (1)
Tbio

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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.
Mondo Term and Equivalent IDs
MONDO:0012854:  bilateral microtia-deafness-cleft palate syndrome
MESH:C567359: 
Orphanet:140963: 
UMLS:C2676772: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found