Search Ontology:
Human Disease
hypoplastic or aplastic tibia with polydactyly
- Term ID
- DOID:0111564
- 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. https://www.ncbi.nlm.nih.gov/pubmed/19847792
- References
-
- GARD:8309
- MESH:C535564
- MIM:188740
- ORDO:3332
- ORDO:988
- UMLS_CUI:C1861099
- Ontology
- Human Disease ( DOID:0111564 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models