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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 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,786,733...108,885,485
Ensembl chr 2:108,786,757...108,885,477 		JBrowse link
G EDAR ectodysplasin A receptor IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,894,471...108,989,256
Ensembl chr 2:108,894,471...108,989,372 		JBrowse link
G GCC2 GRIP and coiled-coil domain containing 2 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,448,561...108,509,415
Ensembl chr 2:108,449,191...108,509,415
Ensembl chr 2:108,449,191...108,509,415 		JBrowse link
G GCC2-AS1 GCC2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,507,527...108,534,219
Ensembl chr 2:108,507,515...108,534,196 		JBrowse link
G LIMS1 LIM zinc finger domain containing 1 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,533,671...108,687,246
Ensembl chr 2:108,534,355...108,687,246 		JBrowse link
G LIMS1-AS1 LIMS1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,676,795...108,678,601
Ensembl chr 2:108,676,795...108,678,601 		JBrowse link
G LINC01593 long intergenic non-protein coding RNA 1593 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,049,200...108,052,755
Ensembl chr 2:108,049,200...108,052,755 		JBrowse link
G LINC01594 long intergenic non-protein coding RNA 1594 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,167,748...108,217,841
Ensembl chr 2:108,167,125...108,217,886 		JBrowse link
G LOC107305685 2q12.3 distal recombination region IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,521,416...108,521,695 JBrowse link
G LOC112695112 Sharpr-MPRA regulatory region 6630 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,662,173...108,662,467 JBrowse link
G RANBP2 RAN binding protein 2 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,719,446...108,785,809
Ensembl chr 2:108,719,482...108,785,809 		JBrowse link
G SLC5A7 solute carrier family 5 member 7 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar
OMIM		 PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 PMID:23141292 PMID:25741868 PMID:27569547 PMID:28492532 NCBI chr 2:107,986,524...108,014,497
Ensembl chr 2:107,986,523...108,013,994 		JBrowse link
G SULT1C2 sulfotransferase family 1C member 2 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,288,895...108,309,915
Ensembl chr 2:108,288,639...108,309,915 		JBrowse link
G SULT1C3 sulfotransferase family 1C member 3 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,239,968...108,265,608
Ensembl chr 2:108,247,195...108,265,351
Ensembl chr 2:108,247,195...108,265,351 		JBrowse link
G SULT1C4 sulfotransferase family 1C member 4 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,377,954...108,388,989
Ensembl chr 2:108,377,911...108,388,989 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19890
    sensory system disease 5745
      Otorhinolaryngologic Diseases 1273
        laryngeal disease 55
          Vocal Cord Paralysis 28
            distal hereditary motor neuronopathy type 7 26
              distal hereditary motor neuronopathy type 7A 15
Path 2
Term Annotations click to browse term
  disease 19890
    disease of anatomical entity 18505
      nervous system disease 14498
        peripheral nervous system disease 2621
          neuropathy 2430
            neuromuscular disease 1951
              motor neuron disease 407
                spinal muscular atrophy 141
                  autosomal dominant distal hereditary motor neuronopathy 41
                    distal hereditary motor neuronopathy type 7 26
                      distal hereditary motor neuronopathy type 7A 15
paths to the root