OBO ID: DOID:0111594
Term Name: distal arthrogryposis type 5D Search Ontology:
Synonyms:
  • DA5D
  • distal arthrogryposis type 5 without ophthalmoparesis
  • distal arthrogryposis type 5 without ophthalmoplegia
Definition: A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in ECEL1 on chromosome 2q37.1. https://www.ncbi.nlm.nih.gov/pubmed/23261301
References:
  • OMIM:615065
  • ORDO:329457
  • SNOMEDCT_US_2020_03_01:773396009
Ontology: Human Disease   (DOID:0111594)
OTHER distal arthrogryposis type 5D PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ECEL1 Arthrogryposis, distal, type 5D 615065
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None