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DO Term : hypoplastic or aplastic tibia with polydactyly [DOID:0111564] Disease Ontology

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disease_ontology

Obsolete

false

description

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,
188740,
OMIM:188740,
ORDO:3332,
UMLS_CUI:C1861099,
absence of tibia with polydactyly,
GARD:8309,
hypoplastic tibiae-postaxial polydactyly syndrome,
MESH:C535564,
absent tibia-polydactyly syndrome,
ORDO:988,
tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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