OBO ID: DOID:0111732
Term Name: Eiken syndrome Search Ontology:
Synonyms:
  • bone modeling defect of hands and feet
  • Eiken skeletal dysplasia
Definition: A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in PTHR1 on chromosome 3p21.31. https://www.ncbi.nlm.nih.gov/pubmed/6734674
References:
Ontology: Human Disease   (DOID:0111732)
OTHER Eiken syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PTH1R Eiken syndrome 600002
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None