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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:Congenital Arthrogryposis with Anterior Horn Cell Disease
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Accession:DOID:9003573 term browser browse the term
Synonyms:exact_synonym: CAAHD;   LAAHD;   lethal arthrogryposis with anterior horn cell disease
 related_synonym: lethal arthrogryoposis with anterior horn cell disease
 primary_id: MESH:C567502
 alt_id: OMIM:611890;   RDO:0015562
For additional species annotation, visit the Alliance of Genome Resources.


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Congenital Arthrogryposis with Anterior Horn Cell Disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by OMIM:611890
ClinVar Annotator: match by term: Lethal arthrogryposis with anterior horn cell disease
OMIM
ClinVar
PMID:7770128 PMID:16892327 PMID:18204449 PMID:24243016 PMID:24961629 PMID:25741868 PMID:27684565 PMID:28166811 PMID:28492532 PMID:28657126 PMID:28884921 PMID:29899397 NCBI chr 3:8,498,098...8,530,218
Ensembl chr 3:8,498,122...8,526,771
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      musculoskeletal system disease 6400
        muscular disease 1229
          arthrogryposis multiplex congenita 113
            Congenital Arthrogryposis with Anterior Horn Cell Disease 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        peripheral nervous system disease 2516
          neuropathy 2316
            neuromuscular disease 1829
              muscular disease 1229
                arthrogryposis multiplex congenita 113
                  Congenital Arthrogryposis with Anterior Horn Cell Disease 1
paths to the root