OBO ID: DOID:0111564
Term Name: hypoplastic or aplastic tibia with polydactyly Search Ontology:
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:
Ontology: Human Disease   ( DOID:0111564 )
OTHER hypoplastic or aplastic tibia with polydactyly PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None