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DOID:0111564 - hypoplastic or aplastic tibia with polydactyly
Disease Ontology Definition:A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3.
Synonyms: Werner mesomelic syndrome, absence of tibia with polydactyly, absent tibia-polydactyly syndrome, hypoplastic tibiae-postaxial polydactyly syndrome, tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome,
Xenbase Genes
:
lmbr1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)