Term Name: | hypoplastic or aplastic tibia with polydactyly |
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Synonyms: | absence of tibia with polydactyly, absent tibia-polydactyly syndrome, hypoplastic tibiae-postaxial polydactyly syndrome, tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome, Werner mesomelic syndrome |
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. |
Ontology: | Human Disease [DOID:0111564] ( DOID:0111564 ) |