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short stature-valvular heart disease-characteristic facies syndrome
Disease Summary
Associated Targets ()
Mondo Description Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.
Mondo Term and Equivalent IDs
MONDO:0007461: short stature-valvular heart disease-characteristic facies 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.
MESH:C565094
OMIM:126190
Orphanet:2868
UMLS:C1852073
MONDO:0007461
High level summary of knowledge for a disease, including descriptions and datasource references.