Search Ontology:
Human Disease

distal arthrogryposis type 5D

Term ID
DOID:0111594
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 the ECEL1 gene on chromosome 2q37.1. https://www.ncbi.nlm.nih.gov/pubmed/23261301
References
  • MIM:615065
  • ORDO:329457
  • SNOMEDCT_US_2021_09_01:773396009
Ontology
Human Disease   ( DOID:0111594 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models