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Simpson-Golabi-Behmel syndrome type 1
Disease Summary
Associated Targets (5)
Tbio
4
Tdark
1
Mondo Description Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene.
Uniprot Description A condition characterized by pre- and postnatal overgrowth (gigantism), facial dysmorphism and a variety of inconstant visceral and skeletal malformations. Characteristic dysmorphic features include macrocephaly with coarse, distinctive facies with a large protruding jaw, broad nasal bridge and cleft palate. Cardiac defects are frequent.
Disease Ontology Description An X-linked recessive disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 on chromosome Xq26.
Mondo Term and Equivalent IDs
MONDO:0020602: Simpson-Golabi-Behmel syndrome type 1
Download Data for Simpson-Golabi-Behmel syndrome type 1
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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.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0060248
OMIM:312870
MONDO:0020602
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