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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 7A
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Accession:DOID:0111201 term browser browse the term
Definition:A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3. (DO)
Synonyms:exact_synonym: DHMN7A;   Distal Hereditary Motor Neuropathy, Type VIIA;   HMN VIIA;   HMN7A;   Harper-Young Myopathy;   Harper-Young myopath;   distal hereditary motor neuronopathy type VIIA;   distal spinal muscular atrophy with vocal cord paralysis type 7A
 primary_id: MESH:C563562
 alt_id: OMIM:158580;   RDO:0012787
For additional species annotation, visit the Alliance of Genome Resources.


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distal hereditary motor neuronopathy type 7A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chrNW_004936829:335,977...397,252 JBrowse link
G Edar ectodysplasin A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chrNW_004936829:429,667...458,943 JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chrNW_004936829:13,235...61,556 JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chrNW_004936829:187,234...240,213 JBrowse link
G LOC101970597 sulfotransferase 1C1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chrNW_004936729:1,783,124...1,796,723 JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chrNW_004936829:261,017...333,910 JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO OMIM NCBI chrNW_004936729:1,511,648...1,534,042 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12781
    sensory system disease 4649
      Otorhinolaryngologic Diseases 1033
        laryngeal disease 42
          Vocal Cord Paralysis 20
            distal hereditary motor neuronopathy type 7 18
              distal hereditary motor neuronopathy type 7A 7
Path 2
Term Annotations click to browse term
  disease 12781
    disease of anatomical entity 12463
      nervous system disease 10328
        peripheral nervous system disease 2232
          neuropathy 2075
            neuromuscular disease 1655
              motor neuron disease 354
                spinal muscular atrophy 119
                  autosomal dominant distal hereditary motor neuronopathy 31
                    distal hereditary motor neuronopathy type 7 18
                      distal hereditary motor neuronopathy type 7A 7
paths to the root