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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-3
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Accession:DOID:0080979 term browser browse the term
Definition:An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25. (DO)
Synonyms:exact_synonym: AMC3;   AMCM;   Arthrogryposis Multiplex Congenita 3, Myogenic Type;   arthrogryposis multiplex congenita, myogenic type
 primary_id: OMIM:618484
 alt_id: DOID:9000909
For additional species annotation, visit the Alliance of Genome Resources.



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arthrogryposis multiplex congenita-3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type ClinVar PMID:25741868 PMID:27782104 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type OMIM
ClinVar
PMID:19542096 PMID:24319099 PMID:24838835 PMID:25741868 PMID:26467025 More... NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      musculoskeletal system disease 7162
        muscular disease 1431
          arthrogryposis multiplex congenita 133
            arthrogryposis multiplex congenita-3 2
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        peripheral nervous system disease 2989
          neuropathy 2780
            neuromuscular disease 2199
              muscular disease 1431
                arthrogryposis multiplex congenita 133
                  arthrogryposis multiplex congenita-3 2
paths to the root