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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:panniculitis
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Accession:DOID:1526 term browser browse the term
Definition:A skin disease that is characterized by inflammation of subcutaneous adipose tissue. (DO)
Synonyms:exact_synonym: Cold Panniculitides;   cold panniculitis;   panniculitides;   subacute nodular migratory panniculitis
 primary_id: MESH:D015434
 xref: EFO:1000746;   ICD10CM:M79.3;   ICD9CM:729.30;   NCI:C112112
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
erythema nodosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Cfb complement factor B ISO associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with Behcet Syndrome;DNA:deletion:: (human) RGD PMID:22766250 RGD:7794848 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Lta lymphotoxin alpha ISO associated with Sarcoidosis;DNA:polymorphism:intron RGD PMID:19225544 RGD:8548773 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human) RGD PMID:12198697 RGD:7364926 NCBI chr20:3,314,830...3,318,106 JBrowse link
G Tnf tumor necrosis factor susceptibility ISO associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human) RGD PMID:12198697 RGD:7364926 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human) RGD PMID:24880677 RGD:13217417 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
Nakajo Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Nodular erythema digital changes ClinVar PMID:20159315 PMID:20534754 PMID:21129723 PMID:21953331 PMID:25741868 More... NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283 		JBrowse link
nodular nonsuppurative panniculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3259592 PMID:6982619 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
otulipenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otulin OTU deubiquitinase with linear linkage specificity susceptibility ISO ClinVar Annotator: match by term: Autoinflammation, panniculitis, and dermatosis syndrome | ClinVar Annotator: match by term: OTULIPENIA
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:25741868 PMID:27523608 PMID:27559085 PMID:28492532 PMID:30796585 More... NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422 		JBrowse link
Subcutaneous Panniculitis-like T-Cell Lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Havcr2 hepatitis A virus cellular receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Subcutaneous panniculitis-like T-cell lymphoma		 CTD
OMIM
ClinVar		 PMID:25741868 PMID:30374066 PMID:30429576 PMID:30792187 NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      skin disease 4047
        dermatomyositis 38
          panniculitis 11
            Erythema Induratum 0
            Panniculitis, Lupus Erythematosus 0
            Peritoneal Panniculitis + 0
            Subcutaneous Panniculitis-like T-Cell Lymphoma 1
            erythema nodosum + 8
            nodular nonsuppurative panniculitis 1
            otulipenia 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        peripheral nervous system disease 4123
          neuropathy 3906
            neuromuscular disease 3058
              muscular disease 2147
                muscle tissue disease 1293
                  myopathy 1007
                    myositis 88
                      polymyositis 43
                        dermatomyositis 38
                          panniculitis 11
                            Erythema Induratum 0
                            Panniculitis, Lupus Erythematosus 0
                            Peritoneal Panniculitis + 0
                            Subcutaneous Panniculitis-like T-Cell Lymphoma 1
                            erythema nodosum + 8
                            nodular nonsuppurative panniculitis 1
                            otulipenia 1
paths to the root