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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 2D
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Accession:DOID:0111210 term browser browse the term
Definition:A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in FBXO38 on 5q32. (DO)
Synonyms:exact_synonym: DHMN2D;   DISTAL HEREDITARY MOTOR NEURONOPATHY 2D;   Distal Hereditary Motor Neuronopathy, Type IID;   HMN IID;   HMN2D;   distal hereditary motor neuropathy type IID;   distal spinal muscular atrophy with calf predominance;   distal spinal muscular atrophy, autosomal dominant, calf-predominant
 primary_id: OMIM:615575
 alt_id: RDO:9001002
For additional species annotation, visit the Alliance of Genome Resources.


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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
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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 neuronopathy type 2D 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 2D 1
paths to the root