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
Ontology
Human Disease   ( DOID:0111564 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models