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deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
Disease Summary
Associated Targets ()
Mondo Description Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).
Mondo Term and Equivalent IDs
MONDO:0017920: deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
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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.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0004303
MESH:C537887
Orphanet:3224
SCTID:721086004
UMLS:C2931654
MONDO:0017920
High level summary of knowledge for a disease, including descriptions and datasource references.