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dysmorphism-short stature-deafness-disorder of sex development syndrome
Disease Summary
Associated Targets ()
Mondo Description Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.
Mondo Term and Equivalent IDs
MONDO:0016433: dysmorphism-short stature-deafness-disorder of sex development 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.
Orphanet:2282
UMLS:CN201392
MONDO:0016433
High level summary of knowledge for a disease, including descriptions and datasource references.