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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:hair follicle neoplasm
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Accession:DOID:5375 term browser browse the term
Definition:An uncontrolled autonomous cell-proliferation originating in a hair follicle. (HPO)
Synonyms:exact_synonym: hair matrix neoplasm;   hair matrix tumour
 primary_id: RDO:9001320
 xref: NCI:C7367
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
pilomatrixoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Calcifying epithelioma of Malherbe | ClinVar Annotator: match by term: Pilomatrixoma OMIM
ClinVar
PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: MUTYH-associated polyposis | ClinVar Annotator: match by term: Pilomatrixoma ClinVar PMID:11801590 PMID:11818965 PMID:12606733 PMID:15673720 PMID:15931596 More... NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146
JBrowse link
G Ovol1 ovo like transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873447 NCBI chr 1:202,855,261...202,868,858
Ensembl chr 1:202,855,265...202,866,831
JBrowse link
G Ovol2 ovo-like zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873447 NCBI chr 3:131,677,388...131,707,844
Ensembl chr 3:131,677,391...131,708,359
JBrowse link
Trichilemmoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras HRas proto-oncogene, GTPase ISO associated with Nevus sebaceous; DNA:mutation:exon:c.37G>C (p.G13R)(human) RGD PMID:24890286 RGD:12738400 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    sensory system disease 6469
      skin disease 3754
        Skin Neoplasms 264
          skin benign neoplasm 76
            hair follicle neoplasm 5
              Trichilemmoma 1
              follicular infundibulum tumor 0
              pilomatrixoma 4
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          skin disease 3754
            Skin Neoplasms 264
              skin benign neoplasm 76
                hair follicle neoplasm 5
                  Trichilemmoma 1
                  follicular infundibulum tumor 0
                  pilomatrixoma 4
paths to the root