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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:primary cutaneous amyloidosis
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Accession:DOID:0050639 term browser browse the term
Definition:An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. (DO)
Synonyms:exact_synonym: Amyloidosis IX;   PCA;   familial cutaneous lichen amyloidosis;   familial lichen amyloidosis;   familial primary localized cutaneous amyloidosis;   primary localized cutaneous amyloidosis
 primary_id: MESH:C562642
 alt_id: MESH:C562643
 xref: GARD:132;   OMIM:PS105250;   ORDO:137807;   ORDO:353220
For additional species annotation, visit the Alliance of Genome Resources.


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primary cutaneous amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO protein:increased expression:skin: RGD PMID:9740234 RGD:7771598 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Il31ra interleukin 31 receptor A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:44,118,748...44,189,943
Ensembl chr 2:44,122,624...44,183,767
JBrowse link
G Osmr oncostatin M receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:55,907,119...55,961,373
Ensembl chr 2:55,907,132...55,961,262
JBrowse link
Finnish type amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsn gelsolin ISO ClinVar Annotator: match by term: Meretoja syndrome
ClinVar Annotator: match by OMIM:105120
OMIM
ClinVar
PMID:1311149 PMID:1315718 PMID:1322359 PMID:1322360 PMID:1652889 More... NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
JBrowse link
primary localized cutaneous amyloidosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osmr oncostatin M receptor ISO ClinVar Annotator: match by term: Primary localized cutaneous amyloidosis 1 OMIM
ClinVar
PMID:18179886 PMID:19690585 NCBI chr 2:55,907,119...55,961,373
Ensembl chr 2:55,907,132...55,961,262
JBrowse link
primary localized cutaneous amyloidosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il31ra interleukin 31 receptor A ISO ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 2
ClinVar Annotator: match by OMIM:613955
OMIM
ClinVar
PMID:19690585 PMID:25741868 NCBI chr 2:44,118,748...44,189,943
Ensembl chr 2:44,122,624...44,183,767
JBrowse link
primary localized cutaneous amyloidosis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpnmb glycoprotein nmb ISO ClinVar Annotator: match by term: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3 ClinVar
OMIM
PMID:19416385 PMID:25741868 PMID:25866143 PMID:29336782 NCBI chr 4:78,010,247...78,031,491
Ensembl chr 4:78,010,197...78,049,367
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    sensory system disease 5611
      skin disease 2954
        Genetic Skin Diseases 1046
          primary cutaneous amyloidosis 5
            Finnish type amyloidosis 1
            primary localized cutaneous amyloidosis 1 1
            primary localized cutaneous amyloidosis 2 1
            primary localized cutaneous amyloidosis 3 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          inherited metabolic disorder 2619
            Familial Amyloidosis 32
              primary cutaneous amyloidosis 5
                Finnish type amyloidosis 1
                primary localized cutaneous amyloidosis 1 1
                primary localized cutaneous amyloidosis 2 1
                primary localized cutaneous amyloidosis 3 1
paths to the root