Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 chr10:34,976,341...35,086,080
Ensembl chr10:34,976,670...35,086,297
JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr10:34,873,311...34,943,140
Ensembl chr10:34,848,526...34,940,784
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 chr10:35,379,055...35,431,500
Ensembl chr10:35,379,030...35,431,457
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 chr10:35,192,582...35,339,100 JBrowse link
G RANBP2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr10:35,088,175...35,181,248
Ensembl chr10:35,088,872...35,181,129
JBrowse link
G SLC5A7 solute carrier family 5 member 7 ISO OMIM NCBI chr10:35,879,880...35,908,203
Ensembl chr10:35,883,245...35,908,569
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 chr10:35,561,023...35,589,999
Ensembl chr10:35,563,044...35,578,434
JBrowse link
G SULT1C3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr10:35,610,282...35,644,315
Ensembl chr10:35,610,989...35,644,557
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 chr10:35,494,614...35,504,162
Ensembl chr10:35,495,727...35,504,125
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13584
    sensory system disease 4847
      Otorhinolaryngologic Diseases 1082
        laryngeal disease 43
          Vocal Cord Paralysis 22
            distal hereditary motor neuronopathy type 7 20
              distal hereditary motor neuronopathy type 7A 9
Path 2
Term Annotations click to browse term
  disease 13584
    disease of anatomical entity 13246
      nervous system disease 10954
        peripheral nervous system disease 2323
          neuropathy 2155
            neuromuscular disease 1722
              motor neuron disease 368
                spinal muscular atrophy 124
                  autosomal dominant distal hereditary motor neuronopathy 33
                    distal hereditary motor neuronopathy type 7 20
                      distal hereditary motor neuronopathy type 7A 9
paths to the root