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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:pilomatrixoma
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Accession:DOID:5374 term browser browse the term
Definition:A tumor composed of cells resembling those of the hair matrix, which undergo 'mummification' and may calcify. It is a relatively uncommon tumor, which may occur at any age from infancy. The majority of patients are under 20, and females are affected more than males. The lesion is usually a solitary deep dermal or subcutaneous tumor 3-30 mm in diameter, situated in the head, neck, or upper extremity. (From Rook et al., Textbook of Dermatology, 4th ed, p2401)
Synonyms:exact_synonym: Benign Pilomatricoma;   Benign Pilomatrixoma;   Calcifying Epithelioma of Malherbe;   Epithelioma Calcificans Of Malherbe;   Malherbe Calcifying Epithelioma;   PTR;   Pilomatricoma
 narrow_synonym: MUTYH-ASSOCIATED POLYPOSIS
 primary_id: MESH:D018296;   RDO:0007169
 alt_id: OMIM:132600
 xref: GARD:9452;   NCI:C7368
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: Pilomatrixoma
ClinVar Annotator: match by term: EPITHELIOMA CALCIFICANS OF MALHERBE
OMIM
ClinVar
PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 PMID:10192393 PMID:10391090 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:25157968 PMID:26619011 PMID:26822237 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: EPITHELIOMA CALCIFICANS OF MALHERBE
ClinVar Annotator: match by term: MUTYH-associated polyposis
ClinVar Annotator: match by term: Pilomatrixoma
ClinVar PMID:11801590 PMID:11818965 PMID:12393807 PMID:12606733 PMID:15635083 PMID:15673720 PMID:15890374 PMID:15931596 PMID:15987719 PMID:16140997 PMID:16492921 PMID:16557584 PMID:16616356 PMID:16890597 PMID:17219385 PMID:17273161 PMID:17368238 PMID:17369389 PMID:17489848 PMID:17674103 PMID:17703316 PMID:17949294 PMID:17956577 PMID:18091433 PMID:18506705 PMID:18534194 PMID:18564191 PMID:19032956 PMID:19245865 PMID:19279422 PMID:19394335 PMID:19506731 PMID:19531215 PMID:19732775 PMID:19793053 PMID:19836313 PMID:19953527 PMID:19998059 PMID:20063264 PMID:20191381 PMID:20418187 PMID:20618354 PMID:20687945 PMID:20848659 PMID:21063410 PMID:21171015 PMID:21178863 PMID:21815886 PMID:21952991 PMID:22158503 PMID:22266422 PMID:22297469 PMID:22473953 PMID:22703879 PMID:22744763 PMID:22865608 PMID:22926731 PMID:22976915 PMID:23007840 PMID:23035301 PMID:23108399 PMID:23322991 PMID:23361220 PMID:23507534 PMID:23561487 PMID:23625202 PMID:23805267 PMID:24033266 PMID:24082139 PMID:24278394 PMID:24444654 PMID:24569162 PMID:24691292 PMID:24728327 PMID:24733792 PMID:24953332 PMID:25525159 PMID:25741868 PMID:25820570 PMID:25937855 PMID:26467025 PMID:26556299 PMID:26822237 PMID:26845104 PMID:27153395 PMID:27705013 PMID:27829682 PMID:28141798 PMID:28152038 PMID:28492532 PMID:28634180 PMID:28944238 PMID:29330641 PMID:29915346 PMID:30487145 PMID:31104418 PMID:31203172 PMID:31739127 PMID:32665031 PMID:32821650 NCBI chr 5:135,663,328...135,675,348
Ensembl chr 5:135,663,371...135,675,344
JBrowse link
G Ovol1 ovo like transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873447 NCBI chr 1:220,927,309...220,938,814
Ensembl chr 1:220,925,605...220,938,814
JBrowse link
G Ovol2 ovo-like zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873447 NCBI chr 3:138,433,990...138,464,511
Ensembl chr 3:138,433,990...138,462,063
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    disease of cellular proliferation 6909
      Neoplasms by Histologic Type 4446
        Glandular and Epithelial Neoplasms 3099
          Basal Cell Neoplasms 48
            pilomatrixoma 4
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        sensory system disease 5336
          skin disease 2747
            Skin Neoplasms 248
              skin benign neoplasm 70
                hair follicle neoplasm 5
                  pilomatrixoma 4
paths to the root