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split hand-foot malformation 1 with sensorineural hearing loss
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.
Uniprot Description A disease characterized by the association of split-hand/foot malformation with deafness. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.
Mondo Term and Equivalent IDs
MONDO:0009080: split hand-foot malformation 1 with sensorineural hearing loss
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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.
DOID:0090024
MESH:C565647
OMIM:220600
Orphanet:71271
SCTID:723611008
UMLS:C1857344
MONDO:0009080
High level summary of knowledge for a disease, including descriptions and datasource references.