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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 5B
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Accession:DOID:0111205 term browser browse the term
Definition:A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in REEP1 on 2p11.2. (DO)
Synonyms:exact_synonym: DHMN VB;   DHMN5B;   DSMAVB;   HMN VB;   HMN5B;   NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VB;   distal HMN VB;   distal hereditary motor neuronopathy type VB;   distal spinal muscular atrophy, type VB
 primary_id: OMIM:614751
For additional species annotation, visit the Alliance of Genome Resources.


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distal hereditary motor neuronopathy type 5B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by OMIM:614751 OMIM
ClinVar
PMID:22703882 NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319
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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 5 4
                  distal hereditary motor neuronopathy type 5B 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 5 4
                      distal hereditary motor neuronopathy type 5B 1
paths to the root