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Greig cephalopolysyndactyly syndrome

Disease Summary
Associated Targets (1)
Tbio

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Mondo Description Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.
Uniprot Description Autosomal dominant disorder affecting limb and craniofacial development. It is characterized by pre- and postaxial polydactyly, syndactyly of fingers and toes, macrocephaly and hypertelorism.
Disease Ontology Description An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face.
Mondo Term and Equivalent IDs
MONDO:0008287:  Greig cephalopolysyndactyly syndrome
GARD:0006550: 
MESH:C537300: 
NCIT:C35255: 
Orphanet:380: 
SCTID:32985001: 
UMLS:C0265306: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)