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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 distal spinal muscular atrophy 3
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Accession:DOID:0111196 term browser browse the term
Definition:A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1. (DO)
Synonyms:exact_synonym: ATP7A-related distal motor neuropathy;   DSMAX;   SMAX3;   X-linked dHMN3;   X-linked dSMA3;   X-linked distal hereditary motor neuropathy type 3;   X-linked distal spinal muscular atrophy, recessive
 primary_id: MESH:C564506
 alt_id: OMIM:300489
 xref: ORDO:139557
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked distal spinal muscular atrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO DNA:missense mutations:cds:p.P1386S, p.T994I (human)
knock in;DNA:missense mutation:cds:p.T985I (mouse)
ClinVar Annotator: match by term: Distal spinal muscular atrophy, X-linked 3
ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE
OMIM
ClinVar
PMID:10570920 PMID:11241493 PMID:14985388 PMID:18414213 PMID:19153371 PMID:20045993 PMID:20170900 PMID:22210628 PMID:23281160 PMID:24033266 PMID:25741868 PMID:28119449 PMID:28492532, PMID:20170900, PMID:27293072 RGD:11252181, RGD:11340198 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        neurodegenerative disease 3231
          motor neuron disease 377
            spinal muscular atrophy 125
              X-linked distal spinal muscular atrophy 3 1
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        peripheral nervous system disease 2432
          neuropathy 2246
            neuromuscular disease 1764
              motor neuron disease 377
                spinal muscular atrophy 125
                  X-linked distal spinal muscular atrophy 3 1
paths to the root