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DOID:0111699 - Van den Ende-Gupta syndrome
Disease Ontology Definition:A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in the SCARF2 gene on chromosome 22q11.21.
Synonyms: blepharophimosis, arachnodactyly, and congenital contractures, Marden-Walker-like syndrome, Marden-Walker-like syndrome without psychmotor retardation, VDEGS
Xenbase Genes
:
scarf2
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)