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ONTOLOGY REPORT - ANNOTATIONS


Term:Distal Arthrogryposis Multiplex Congenita, X-Linked
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Accession:DOID:9001558 term browser browse the term
Synonyms:exact_synonym: Amcx1;   Arthrogryposis, X-Linked, Type I;   Smax2;   Spinal Muscular Atrophy, Infantile X-Linked;   Spinal Muscular Atrophy, X-Linked 2;   Spinal Muscular Atrophy, X-Linked Lethal Infantile;   XLSMA;   distal AMC, X-linked
 primary_id: MESH:C535380
 alt_id: OMIM:301830;   RDO:0000469
For additional species annotation, visit the Alliance of Genome Resources.


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Distal Arthrogryposis Multiplex Congenita, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Uba1 ubiquitin-like modifier activating enzyme 1 JBrowse link X 1,723,135 1,745,147 RGD:7240710
RGD:8554872
G Zc4h2 zinc finger C4H2-type containing JBrowse link X 64,887,978 64,908,682 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      musculoskeletal system disease 3975
        Joint Diseases 1031
          Arthrogryposis 51
            distal arthrogryposis 14
              Distal Arthrogryposis Multiplex Congenita, X-Linked 2
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        peripheral nervous system disease 2004
          neuropathy 1820
            neuromuscular disease 1392
              muscular disease 887
                muscle tissue disease 613
                  distal arthrogryposis 14
                    Distal Arthrogryposis Multiplex Congenita, X-Linked 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.