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short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description An autosomal dominant disorder characterized by short stature, facial dysmorphism, skeletal anomalies, and variable cardiac defects. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract.
Mondo Term and Equivalent IDs
MONDO:0031439: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
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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 UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIMPS:617877
MONDO:0031439
High level summary of knowledge for a disease, including descriptions and datasource references.