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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 neuropathy type 2B
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Accession:DOID:0111207 term browser browse the term
Definition:A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB1 on 7q11.23. (DO)
Synonyms:exact_synonym: DHMN2B;   HMN IIB;   HMN2B;   distal hereditary motor neuronopathy, type IIB;   distal hereditary motor neuropathy, type IIB
 broad_synonym: HSPB1-related disorder
 primary_id: MESH:C567084
 alt_id: OMIM:608634;   RDO:0015258
For additional species annotation, visit the Alliance of Genome Resources.


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distal hereditary motor neuropathy type 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by OMIM:608634
ClinVar Annotator: match by term: HSPB1-Related Disorder
ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
OMIM
ClinVar
PMID:11528513 PMID:15122254 PMID:16087758 PMID:16155736 PMID:16368711 PMID:17623484 PMID:17881652 PMID:18325928 PMID:18832141 PMID:20178975 PMID:20660910 PMID:22031878 PMID:22057845 PMID:22176143 PMID:22734906 PMID:23643870 PMID:25741868 PMID:25965061 PMID:26467025 PMID:26986878 PMID:27816334 PMID:28144995 PMID:28492532 PMID:28595321 PMID:28702508 PMID:29381233 NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        neurodegenerative disease 3220
          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 neuropathy type 2B 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 neuropathy type 2B 1
paths to the root