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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:autosomal dominant distal hereditary motor neuronopathy 7
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Accession:DOID:0111199 term browser browse the term
Definition:An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3. (DO)
Synonyms:exact_synonym: DHMN7A;   DHMNVP;   DHMNVPy;   HMN VIIA;   HMN7A;   HMND7;   Harper-Young myopath;   Harper-Young myopathy;   dHMN7;   distal hereditary motor neuronopathy type 7;   distal hereditary motor neuronopathy type 7A;   distal hereditary motor neuronopathy type VIIA;   distal hereditary motor neuronopathy, Harding type VIIA;   distal hereditary motor neuronopathy, autosomal dominant 7;   distal hereditary motor neuropathy type VIIA;   distal hereditary motor neuropathy, Harding type VIIA;   distal spinal muscular atrophy with vocal cord paralysis;   distal spinal muscular atrophy with vocal cord paralysis type 7A
 primary_id: MESH:C563562
 alt_id: DOID:0111201;   MIM:158580
 xref: ORDO:139589

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autosomal dominant distal hereditary motor neuronopathy 7 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 7A ClinVar PMID:28492532 NCBI chrNW_004624749:11,924,869...11,974,072
Ensembl chrNW_004624749:11,924,803...11,973,743 		JBrowse link
G Edar ectodysplasin A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chrNW_004624749:11,981,782...11,998,933
Ensembl chrNW_004624749:11,983,550...11,998,918 		JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chrNW_004624749:11,670,493...11,709,830
Ensembl chrNW_004624749:11,670,475...11,710,053 		JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chrNW_004624749:11,720,492...11,846,571 JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia OMIM
ClinVar		 PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624749:11,347,602...11,371,113
Ensembl chrNW_004624749:11,347,609...11,371,330 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14093
    sensory system disease 6227
      Otorhinolaryngologic Diseases 1564
        laryngeal disease 56
          Vocal Cord Paralysis 9
            autosomal dominant distal hereditary motor neuronopathy 7 5
Path 2
Term Annotations click to browse term
  disease 14093
    disease of anatomical entity 13772
      nervous system disease 12061
        peripheral nervous system disease 3830
          neuropathy 3649
            cranial nerve disease 645
              glossopharyngeal nerve disease 30
                Vagus nerve disease 9
                  Vocal Cord Paralysis 9
                    autosomal dominant distal hereditary motor neuronopathy 7 5
paths to the root