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short stature-webbed neck-heart disease syndrome
Disease Summary
Associated Targets ()
Mondo Description Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.
Mondo Term and Equivalent IDs
MONDO:0017315: short stature-webbed neck-heart disease 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:0000583
MESH:C535613
Orphanet:2865
SCTID:721073008
UMLS:C2930950
MONDO:0017315
High level summary of knowledge for a disease, including descriptions and datasource references.