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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:X-linked spinal muscular atrophy 2
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Accession:DOID:0111827 term browser browse the term
Definition:A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in UBA1 on chromosome Xp11.3. (DO)
Synonyms:exact_synonym: Amcx1;   Arthrogryposis, X-Linked, Type I;   Distal Arthrogryposis Multiplex Congenita, X-Linked;   Smax2;   X-linked spinal muscular atrophy type 2;   X-linked spinal muscular atrophy, infantile;   X-linked spinal muscular atrophy, lethal infantile;   XLSMA;   distal AMC, X-linked;   infantile-onset X-linked spinal muscular atrophy;   spinal muscular atrophy with arthrogryposis
 primary_id: MESH:C535380
 alt_id: OMIM:301830
 xref: GARD:8521;   ORDO:1145
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked spinal muscular atrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba1 ubiquitin-like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, X-linked 2
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita, distal, X-linked
ClinVar Annotator: match by OMIM:301830
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18179898 PMID:25741868 PMID:26467025 PMID:28492532 PMID:33108101 NCBI chr  X:1,723,135...1,745,147
Ensembl chr  X:1,723,174...1,741,701
JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:23623388 NCBI chr  X:64,887,978...64,908,682
Ensembl chr  X:64,887,978...64,908,682
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      musculoskeletal system disease 6419
        Joint Diseases 1182
          arthrogryposis multiplex congenita 115
            distal arthrogryposis 38
              X-linked spinal muscular atrophy 2 2
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      nervous system disease 12094
        peripheral nervous system disease 2527
          neuropathy 2326
            neuromuscular disease 1832
              muscular disease 1231
                muscle tissue disease 823
                  distal arthrogryposis 38
                    X-linked spinal muscular atrophy 2 2
paths to the root