Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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 2C
go back to main search page
Accession:DOID:0111209 term browser browse the term
Definition:A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB3 on 5q11.2. (DO)
Synonyms:exact_synonym: DHMN2C;   Distal Hereditary Motor Neuronopathy, Type IIC;   Distal Hereditary Motor Neuropathy, Type IIC;   HMN IIC;   HMN2C
 primary_id: OMIM:613376
 alt_id: RDO:0009827
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
distal hereditary motor neuronopathy type 2C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspb3 heat shock protein family B (small) member 3 ISO ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC
ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 2C
OMIM
ClinVar
PMID:20142617 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:45,517,788...45,518,502
Ensembl chr 2:45,517,789...45,518,502
JBrowse link

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 neuronopathy type 2C 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 2C 1
paths to the root