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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 chr20:28,076,784...28,158,053
Ensembl chr20:28,078,500...28,157,071
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
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 chr20:27,832,960...27,879,764
Ensembl chr20:27,832,932...27,879,759
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 chr20:27,895,981...28,004,767
Ensembl chr20:27,954,433...28,002,082
JBrowse link
G LOC100910235 sulfotransferase 1C1-like ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 9:4,323,997...4,328,175
Ensembl chr 9:4,324,211...4,327,679
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:28,027,054...28,076,664
NCBI chr20:28,365,538...28,375,676
Ensembl chr20:28,027,054...28,076,664
Ensembl chr20:28,027,054...28,076,664
JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia
ClinVar Annotator: match by OMIM:158580
OMIM
ClinVar
PMID:7420092 PMID:11294660 PMID:23141292 PMID:25741868 PMID:27569547 PMID:28492532 NCBI chr 9:5,294,377...5,330,822
Ensembl chr 9:5,294,381...5,330,815
JBrowse link
G Sult1c2a sulfotransferase family, cytosolic, 1C, member 2a ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 9:4,152,588...4,168,355
Ensembl chr 9:4,152,589...4,168,221
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 chr 9:4,931,038...4,978,847
Ensembl chr 9:4,930,818...4,978,892
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    sensory system disease 5245
      Otorhinolaryngologic Diseases 1154
        laryngeal disease 48
          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 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        peripheral nervous system disease 2430
          neuropathy 2245
            neuromuscular disease 1766
              motor neuron disease 378
                spinal muscular atrophy 126
                  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