OBO ID: DOID:0070336
Term Name: arthrogryposis multiplex congenita-6 Search Ontology:
Synonyms:
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. https://pubmed.ncbi.nlm.nih.gov/33376055/
References:
Ontology: Human Disease   ( DOID:0070336 )
Relationships
is a type of:
OTHER arthrogryposis multiplex congenita-6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NEB Arthrogryposis multiplex congenita 6 619334
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.