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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 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        muscular disease 1223
          Arthrogryposis 96
            hereditary neuropathy with liability to pressure palsies 3
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          neuropathy 2320
            neuromuscular disease 1805
              muscular disease 1223
                Arthrogryposis 96
                  hereditary neuropathy with liability to pressure palsies 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.