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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:autosomal dominant distal hereditary motor neuronopathy 6
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Accession:DOID:0111210 term browser browse the term
Definition:A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the FBXO38 gene on 5q32. (DO)
Synonyms:exact_synonym: DHMN2D;   DISTAL HEREDITARY MOTOR NEURONOPATHY 2D;   FBXO38-RELATED CONDITION;   HMN IID;   HMN2D;   HMND6;   distal hereditary motor neuronopathy type 2D;   distal hereditary motor neuronopathy, Harding type IID;   distal hereditary motor neuropathy type IID;   distal hereditary motor neuropathy, Harding type IID;   distal spinal muscular atrophy with calf predominance;   distal spinal muscular atrophy, autosomal dominant, calf-predominant
 primary_id: OMIM:615575


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autosomal dominant distal hereditary motor neuronopathy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo38 F-box protein 38 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FBXO38-related condition | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2D		 OMIM
CTD
ClinVar		 PMID:7723957 PMID:24207122 PMID:25741868 PMID:28492532 PMID:31420593 More... NCBI chr18:55,956,950...56,004,013
Ensembl chr18:55,956,959...56,003,961 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        neurodegenerative disease 4906
          motor neuron disease 531
            spinal muscular atrophy 152
              autosomal dominant distal hereditary motor neuronopathy 34
                autosomal dominant distal hereditary motor neuronopathy 6 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              motor neuron disease 531
                spinal muscular atrophy 152
                  autosomal dominant distal hereditary motor neuronopathy 34
                    autosomal dominant distal hereditary motor neuronopathy 6 1
paths to the root