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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:arthrogryposis multiplex congenita-6
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Accession:DOID:0070336 term browser browse the term
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. (DO)
Synonyms:exact_synonym: AMC6
 primary_id: MIM:619334
 alt_id: DOID:9004972


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arthrogryposis multiplex congenita-6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126806373 BRD4-independent group 4 enhancer GRCh37_chr2:152410007-152411206 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 ClinVar PMID:25205138 PMID:25741868 PMID:28492532 NCBI chr 2:151,553,493...151,554,692 JBrowse link
G NEB nebulin IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 OMIM
ClinVar		 PMID:9536098 PMID:12207938 PMID:15221447 PMID:15336686 PMID:16199547 More... NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G RIF1 replication timing regulatory factor 1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 ClinVar PMID:9536098 PMID:12207938 PMID:15336686 PMID:16199547 PMID:16917880 More... NCBI chr 2:151,409,902...151,534,435
Ensembl chr 2:151,409,883...151,508,013 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97419
    physical disorder 7978
      arthrogryposis multiplex congenita 322
        arthrogryposis multiplex congenita-6 3
Path 2
Term Annotations click to browse term
  disease 97419
    disease of anatomical entity 91051
      musculoskeletal system disease 21004
        connective tissue disease 16001
          bone disease 12638
            bone inflammation disease 6250
              arthropathy 6224
                arthrogryposis multiplex congenita 322
                  arthrogryposis multiplex congenita-6 3
paths to the root