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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:distal hereditary motor neuronopathy type 2A
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Accession:DOID:0111208 term browser browse the term
Definition:A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB8 on 12q24.23. (DO)
Synonyms:exact_synonym: Charcot-Marie-Tooth Disease, Spinal, IIA;   DHMN2A;   HMN IIA;   HMN2A;   autosomal dominant adult spinal muscular atrophy IIA;   distal hereditary motor neuronopathy, type IIA;   distal hereditary motor neuropathy type IIA;   distal spinal muscular atrophy, adult autosomal dominant, IIA
 primary_id: MESH:C563561
 alt_id: OMIM:158590;   RDO:0012786
For additional species annotation, visit the Alliance of Genome Resources.


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distal hereditary motor neuronopathy type 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspb8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by OMIM:158590
ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, ADULT, AUTOSOMAL DOMINANT, IIA
ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 2A
OMIM
ClinVar
PMID:1517763 PMID:15122253 PMID:17344846 PMID:20538880 PMID:21985219 PMID:25741868 PMID:26467025 PMID:26718575 PMID:26986878 PMID:28251916 PMID:28492532 NCBI chr12:45,905,371...45,920,014
Ensembl chr12:45,905,371...45,920,013
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      musculoskeletal system disease 5288
        neuromuscular disease 1766
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 2 63
              distal hereditary motor neuronopathy type 2A 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        peripheral nervous system disease 2430
          neuropathy 2245
            neuromuscular disease 1766
              motor neuron disease 378
                spinal muscular atrophy 126
                  autosomal dominant distal hereditary motor neuronopathy 33
                    distal hereditary motor neuronopathy type 2 4
                      distal hereditary motor neuronopathy type 2A 1
paths to the root