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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 2
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Accession:DOID:0111206 term browser browse the term
Definition:An autosomal dominant distal hereditary motor neuronopathy characterized by adult onset of slowly progressive distal atrophy and weakness. (DO)
Synonyms:exact_synonym: HMN II;   HMN2;   distal hereditary motor neuropathy type II
 xref: ORDO:139525
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 term: Distal hereditary motor neuronopathy type 2A
ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, ADULT, AUTOSOMAL DOMINANT, IIA
ClinVar Annotator: match by OMIM:158590
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
JBrowse link
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: Distal hereditary motor neuronopathy type 2C
ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC
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
distal hereditary motor neuronopathy type 2D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo38 F-box protein 38 ISO ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL DOMINANT, CALF-PREDOMINANT
ClinVar Annotator: match by term: Distal hereditary motor neuronopathy 2D
OMIM
ClinVar
PMID:7723957 PMID:24207122 PMID:25741868 PMID:28492532 NCBI chr18:57,827,391...57,874,515
Ensembl chr18:57,827,392...57,866,741
JBrowse link
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 term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
ClinVar Annotator: match by term: HSPB1-Related Disorder
ClinVar Annotator: match by OMIM:608634
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
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 2A 1
                  distal hereditary motor neuronopathy type 2C 1
                  distal hereditary motor neuronopathy type 2D 1
                  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 neuronopathy type 2A 1
                      distal hereditary motor neuronopathy type 2C 1
                      distal hereditary motor neuronopathy type 2D 1
                      distal hereditary motor neuropathy type 2B 1
paths to the root