distal arthrogryposis type 5D

Summary

DOID:0111594 - distal arthrogryposis type 5D

Disease Ontology 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.

Synonyms: DA5D, distal arthrogryposis type 5 without ophthalmoparesis, distal arthrogryposis type 5 without ophthalmoplegia

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ecel1

MIM:

MIM:615065 - ARTHROGRYPOSIS, DISTAL, TYPE 5D; DA5D

MIM:615065 - ARTHROGRYPOSIS, DISTAL, TYPE 5D; DA5D

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), distal arthrogryposis (is_a)