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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:sebaceous gland disease
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Accession:DOID:9098 term browser browse the term
Definition:A skin disease that is located_in the sebaceous gland. (DO)
Synonyms:exact_synonym: sebaceous gland diseases
 primary_id: MESH:D012625
 xref: EFO:1000763;   ICD10CM:L70.8;   ICD9CM:706.1


show annotations for term's descendants           Sort by:
acne term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase severity ISO protein:decreased activity:blood:
protein:increased activity:leukocyte:		 RGD PMID:16489259 PMID:23174057 PMID:11349462 RGD:9479167, RGD:9479743, RGD:9479168 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Igf1 insulin-like growth factor 1 no_association ISO protein:increased expression:serum: RGD PMID:7608381 PMID:9347796 PMID:21054577 RGD:8549457, RGD:8549499, RGD:8549489 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:pilosebaceous unit, dermis (human) RGD PMID:23924903 RGD:8698671 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il4r interleukin 4 receptor ISO DNA:polymorphism: :p.Q551R (human) RGD PMID:22705603 RGD:7829779 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580 		JBrowse link
G Tlr2 toll-like receptor 2 susceptibility
severity		 ISO DNA:polymorphism:cds:p.R753Q(human)
mRNA,protein:increased expression:skin:		 RGD PMID:20861605 PMID:18241264 PMID:20726329 RGD:8553023, RGD:8553025, RGD:8553024 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 no_association ISO DNA:polymorphisms:exons:p.D299G,T399I(human) RGD PMID:17033191 RGD:7794754 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:c.-308 G>A (human) RGD PMID:18615253 RGD:7394817 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO DNA:SNP: :p,M196R (676T>G) (human) RGD PMID:20556591 RGD:8661742 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B susceptibility ISO DNA:polymorphism:cds:p.M196R(human) RGD PMID:20861605 RGD:8553023 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
Acne Conglobata term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:polymorphisms:exons:p.D299G,T399I(human) RGD PMID:22085193 RGD:7777157 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
Ichthyosis Hystrix, Curth Macklin Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Ichthyosis hystrix, Curth Macklin type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16417221 PMID:21844476 PMID:22834809 NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844 		JBrowse link
Muir-Torre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhit fragile histidine triad diadenosine triphosphatase ISS OMIM:158320 MouseDO NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340 		JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2414824 PMID:4063166 PMID:7705822 PMID:8198129 PMID:8571956 More... NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617 		JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:6096739 PMID:7585065 PMID:7713503 PMID:8566964 PMID:8592341 More... NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938 		JBrowse link
PAPA syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Familial recurrent arthritis | ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum and acne | ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11971877 PMID:14595024 PMID:15580218 PMID:16199547 More... NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580 		JBrowse link
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ffar4 free fatty acid receptor 4 ISO ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome ClinVar PMID:9888420 PMID:10232633 PMID:16157297 PMID:25741868 PMID:25910211 More... NCBI chr 1:235,873,576...235,891,597
Ensembl chr 1:235,873,576...235,891,597 		JBrowse link
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9888420 PMID:10232633 PMID:16157297 PMID:23189188 PMID:25741868 More... NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399 		JBrowse link
sebaceous gland neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO RGD PMID:12354803 RGD:8662839 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16565724 NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794 		JBrowse link
Sebocystomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt17 keratin 17 ISO ClinVar Annotator: match by term: Sebocystomatosis ClinVar PMID:2248894 PMID:7529318 PMID:9008238 PMID:9767294 PMID:22336949 More... NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392 		JBrowse link
seborrheic dermatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO protein:increased activity:scalp: RGD PMID:24001414 RGD:9479166 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Tlr2 toll-like receptor 2 treatment ISO RGD PMID:21566548 RGD:8553045 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
steatocystoma multiplex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt17 keratin 17 ISO ClinVar Annotator: match by term: Multiple sebaceous cysts | ClinVar Annotator: match by term: Steatocystoma multiplex
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2248894 PMID:7529318 PMID:9008238 PMID:9767294 PMID:11809119 More... NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6960
      skin disease 3969
        sebaceous gland disease 23
          Rhinophyma 0
          acne + 16
          follicular mucinosis 0
          sebaceous gland neoplasm + 5
          seborrheic dermatitis + 3
          steatocystoma multiplex + 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        Neurologic Manifestations 10052
          sensory system disease 6960
            skin disease 3969
              sebaceous gland disease 23
                Rhinophyma 0
                acne + 16
                follicular mucinosis 0
                sebaceous gland neoplasm + 5
                seborrheic dermatitis + 3
                steatocystoma multiplex + 1
paths to the root