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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:Diseases of the sebaceous glands such as sebaceous hyperplasia and sebaceous cell carcinoma (SEBACEOUS GLAND NEOPLASMS).
Synonyms:exact_synonym: sebaceous gland diseases
 primary_id: MESH:D012625;   RDO:0004711
 xref: ICD10CM:L70.8;   ICD9CM:706.1
For additional species annotation, visit the Alliance of Genome Resources.


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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 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:pilosebaceous unit, dermis (human) RGD PMID:23924903 RGD:8698671 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il4r interleukin 4 receptor ISO DNA:polymorphism: :p.Q551R (human) RGD PMID:22705603 RGD:7829779 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 8:60,760,040...60,799,364
Ensembl chr 8:60,760,078...60,799,361
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 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:c.-308 G>A (human) RGD PMID:18615253 RGD:7394817 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO DNA:SNP: :p,M196R (676T>G) (human) RGD PMID:20556591 RGD:8661742 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B susceptibility ISO DNA:polymorphism:cds:p.M196R(human) RGD PMID:20861605 RGD:8553023 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
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 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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 OMIM NCBI chr 7:143,448,318...143,453,544
Ensembl chr 7:143,448,318...143,453,544
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 chr15:15,697,292...16,862,873 JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Muir-Torré syndrome
ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas
OMIM
ClinVar
PMID:1522200, PMID:4063166, PMID:7705822, PMID:8198129, PMID:8751876, PMID:9311737, PMID:9377556, PMID:9777949, PMID:10422993, PMID:10713887, PMID:10995807, PMID:11208710, PMID:11585727, PMID:11920650, PMID:11948175, PMID:12658575, PMID:14635101, PMID:15173238, PMID:15475387, PMID:15713769, PMID:15849733, PMID:15870828, PMID:15996210, PMID:16181381, PMID:16216036, PMID:16736289, PMID:17135187, PMID:17210669, PMID:17473388, PMID:17505997, PMID:17510385, PMID:18561205, PMID:18726168, PMID:19116412, PMID:19690142, PMID:21404117, PMID:21636617, PMID:21681552, PMID:22776989, PMID:22843852, PMID:23729658, PMID:24033266, PMID:24344984, PMID:25741868, PMID:26437257, PMID:26467025, PMID:26552419, PMID:27064304, PMID:27601186, PMID:27978560, PMID:28492532, PMID:28514183, PMID:28767289, PMID:30504929 NCBI chr 8:119,486,655...119,523,716
Ensembl chr 8:119,486,691...119,523,964
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
OMIM
ClinVar
PMID:7585065, PMID:7713503, PMID:8566964, PMID:8592341, PMID:9002677, PMID:9217825, PMID:9288790, PMID:9718327, PMID:9739019, PMID:10080150, PMID:10323887, PMID:10375096, PMID:10397236, PMID:11151427, PMID:11291077, PMID:11601928, PMID:12132870, PMID:12362047, PMID:12624141, PMID:14994245, PMID:15235030, PMID:15655560, PMID:15849733, PMID:15872200, PMID:15942939, PMID:16216036, PMID:16451135, PMID:16636019, PMID:16736289, PMID:16830052, PMID:16996571, PMID:17250661, PMID:17312306, PMID:17473388, PMID:17569143, PMID:18270343, PMID:18289827, PMID:18772310, PMID:19419416, PMID:19731080, PMID:20007843, PMID:21598002, PMID:21642682, PMID:22034109, PMID:23990280, PMID:24344984, PMID:24362816, PMID:24415873, PMID:24474082, PMID:24549055, PMID:24851142, PMID:25093288, PMID:25110875, PMID:25117503, PMID:25194673, PMID:25430799, PMID:25525159, PMID:25741868, PMID:26437257, PMID:26467025, PMID:27606285, PMID:28449805, PMID:28492532, PMID:28874130, PMID:28944238, PMID:29489754, PMID:29889250 NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
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 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Familial recurrent arthritis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum and acne
ClinVar Annotator: match by OMIM:604416
OMIM
ClinVar
CTD
PMID:11971877, PMID:14595024, PMID:15580218, PMID:16527883, PMID:19673875, PMID:19934105, PMID:20506269, PMID:22161697, PMID:22513199, PMID:25741868, PMID:25845478, PMID:26025129, PMID:27106250, PMID:27577878, PMID:28492532, PMID:30290665, PMID:30311386, PMID:31443670 NCBI chr 8:60,760,040...60,799,364
Ensembl chr 8:60,760,078...60,799,361
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 Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
ClinVar Annotator: match by OMIM:615147
OMIM
ClinVar
PMID:9888420, PMID:10232633, PMID:16157297, PMID:23189188, PMID:25910211, PMID:28492532 NCBI chr 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711
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 chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16565724 NCBI chr 2:236,232,115...236,345,061
Ensembl chr 2:236,233,239...236,345,056
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 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Tlr2 toll-like receptor 2 treatment ISO RGD PMID:21566548 RGD:8553045 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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 OMIM:184500 OMIM
ClinVar
PMID:9008238, PMID:9767294, PMID:11886499 NCBI chr10:88,158,993...88,163,712
Ensembl chr10:88,118,001...88,163,723
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      skin disease 2765
        sebaceous gland disease 22
          Rhinophyma 0
          acne + 15
          follicular mucinosis 0
          sebaceous gland neoplasm + 5
          seborrheic dermatitis + 3
          steatocystoma multiplex + 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          skin disease 2765
            sebaceous gland disease 22
              Rhinophyma 0
              acne + 15
              follicular mucinosis 0
              sebaceous gland neoplasm + 5
              seborrheic dermatitis + 3
              steatocystoma multiplex + 1
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.