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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_004955470:12,249,279...12,305,099
Ensembl chrNW_004955470:12,251,682...12,305,973
JBrowse link
G Edar ectodysplasin A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chrNW_004955470:12,310,680...12,362,555
Ensembl chrNW_004955470:12,309,048...12,362,570
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_004955470:12,011,606...12,053,625
Ensembl chrNW_004955470:12,011,708...12,055,907
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_004955470:12,142,997...12,158,273 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_004955470:12,180,426...12,247,737
Ensembl chrNW_004955470:12,180,544...12,249,555
JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO OMIM NCBI chrNW_004955470:11,673,491...11,694,404
Ensembl chrNW_004955470:11,673,465...11,697,163
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12519
    sensory system disease 4557
      Otorhinolaryngologic Diseases 1014
        laryngeal disease 41
          Vocal Cord Paralysis 19
            distal hereditary motor neuronopathy type 7 17
              distal hereditary motor neuronopathy type 7A 6
Path 2
Term Annotations click to browse term
  disease 12519
    disease of anatomical entity 12202
      nervous system disease 10113
        peripheral nervous system disease 2205
          neuropathy 2051
            neuromuscular disease 1632
              motor neuron disease 345
                spinal muscular atrophy 115
                  autosomal dominant distal hereditary motor neuronopathy 30
                    distal hereditary motor neuronopathy type 7 17
                      distal hereditary motor neuronopathy type 7A 6
paths to the root