|
DOID:0070336 - arthrogryposis multiplex congenita-6
Disease Ontology Definition:An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.
Synonyms:
Xenbase Genes
:
| MIM:619334 - ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
arthrogryposis multiplex congenita (is_a)