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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:hereditary neuropathy with liability to pressure palsies
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Accession:DOID:0060843 term browser browse the term
Definition:A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12. (DO)
Synonyms:exact_synonym: HNPP;   compression neuropathy;   current pressure-sensitive neuropathy;   familial pressure sensitive neuropathy;   familial recurrent polyneuropathy;   hereditary liability to pressure palsies;   hereditary neuropathy with liability to pressure palsy;   hereditary pressure sensitive neuropathy;   heterozygous microdeletion 17p11.2p12;   inherited tendency to pressure palsies;   potato-grubbing palsy;   tomaculous neuropathy;   tulip-bulb digger's palsy
 primary_id: MESH:C536965
 alt_id: OMIM:162500
 xref: ORDO:640
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary neuropathy with liability to pressure palsies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Hereditary liability to pressure palsies ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:52,889,570...52,964,558
Ensembl chr13:52,889,737...52,964,155
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Hereditary liability to pressure palsies ClinVar PMID:16288874 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Hereditary liability to pressure palsies
ClinVar Annotator: match by OMIM:162500
ClinVar Annotator: match by term: Hereditary Neuropathy with Liability to Pressure Palsies
OMIM
ClinVar
PMID:7649472 PMID:7825607 PMID:8012388 PMID:8252046 PMID:8422677 PMID:8541860 PMID:8988161 PMID:9040737 PMID:9371959 PMID:9452099 PMID:9678704 PMID:9712007 PMID:9852256 PMID:10078969 PMID:10586280 PMID:10737979 PMID:11081809 PMID:11545686 PMID:12211648 PMID:12439896 PMID:12796555 PMID:14502374 PMID:15205993 PMID:15537650 PMID:15955700 PMID:16288874 PMID:16437560 PMID:17620487 PMID:18698610 PMID:19067730 PMID:19259128 PMID:19691535 PMID:20842290 PMID:21194947 PMID:21228398 PMID:21252112 PMID:21670407 PMID:21692910 PMID:25400662 PMID:25741868 PMID:26012543 PMID:26102530 PMID:26392352 PMID:26467025 PMID:27609586 PMID:28333917 PMID:28374912 PMID:28492532 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        muscular disease 1218
          Arthrogryposis 96
            hereditary neuropathy with liability to pressure palsies 3
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              muscular disease 1218
                Arthrogryposis 96
                  hereditary neuropathy with liability to pressure palsies 3
paths to the root