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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 chr2A:95,030,440...95,126,627
Ensembl chr2A:110,041,000...110,128,234
JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr2A:95,132,396...95,172,218
Ensembl chr2A:110,146,499...110,234,398
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 chr2A:94,659,117...94,721,491
Ensembl chr2A:109,682,552...109,734,682
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 chr2A:94,739,338...94,928,835 JBrowse link
G LOC100989340 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr2A:94,961,024...95,029,437 JBrowse link
G SLC5A7 solute carrier family 5 member 7 ISO OMIM NCBI chr2A:93,917,086...93,944,308
Ensembl chr2A:109,017,805...109,046,860
JBrowse link
G SULT1C2 sulfotransferase family 1C member 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr2A:94,468,094...94,489,191
Ensembl chr2A:109,572,466...109,622,211
JBrowse link
G SULT1C4 sulfotransferase family 1C member 4 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr2A:94,508,492...94,519,963
Ensembl chr2A:109,572,466...109,622,211
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13605
    sensory system disease 4817
      Otorhinolaryngologic Diseases 1063
        laryngeal disease 47
          Vocal Cord Paralysis 21
            distal hereditary motor neuronopathy type 7 19
              distal hereditary motor neuronopathy type 7A 8
Path 2
Term Annotations click to browse term
  disease 13605
    disease of anatomical entity 13266
      nervous system disease 10957
        peripheral nervous system disease 2289
          neuropathy 2125
            neuromuscular disease 1696
              motor neuron disease 362
                spinal muscular atrophy 122
                  autosomal dominant distal hereditary motor neuronopathy 32
                    distal hereditary motor neuronopathy type 7 19
                      distal hereditary motor neuronopathy type 7A 8
paths to the root