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: Kaposi's sarcoma
Accession: DOID:8632
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Definition: A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8). (DO)
Synonyms: exact_synonym: Kaposi sarcoma; Kaposis sarcoma; anal Kaposi's sarcoma; cardiac Kaposi's sarcoma; central nervous system Kaposi's sarcoma; conjunctival Kaposi's sarcoma; corneal Kaposi's sarcoma; cutaneous Kaposi's sarcoma; esophageal Kaposi's sarcoma; gallbladder Kaposi's sarcoma; gastric Kaposi's sarcoma; intestinal Kaposi's sarcoma; multiple idiopathic pigmented hemangiosarcoma; prostate Kaposi's sarcoma
narrow_synonym: African lymphadenopathic Kaposi's sarcoma; Kaposi's sarcoma of anus; Kaposi's sarcoma of central nervous system; Kaposi's sarcoma of conjunctiva; Kaposi's sarcoma of cornea; Kaposi's sarcoma of esophagus; Kaposi's sarcoma of gastrointestinal sites; Kaposi's sarcoma of heart; Kaposi's sarcoma of lung; Kaposi's sarcoma of lymph nodes; Kaposi's sarcoma of palate; Kaposi's sarcoma of penis; Kaposi's sarcoma of skin; Kaposi's sarcoma of soft tissue; Kaposi's sarcoma of soft tissues; Kaposi's sarcoma of the CNS; Kaposi's sarcoma of the gallbladder; Kaposi's sarcoma of the prostate; Kaposi's sarcoma, lung; Kaposi's sarcoma, skin; MCD; iatrogenic Kaposi's sarcoma; lymph node Kaposi's sarcoma; lymphadenopathic Kaposi's sarcoma; palate Kaposi's sarcoma; penis Kaposi's sarcoma; pulmonary Kaposi's sarcoma; soft tissue Kaposi's sarcoma
related_synonym: Kaposi sarcoma, susceptibility to; Kaposi's sarcoma-associated herpesvirus (KSHV); MULTIPLE IDIOPATHIC PIGMENTED HEMANGIOSARCOMA, SUSCEPTIBILITY TO MULTICENTRIC CASTLEMAN DISEASE, SUSCEPTIBILITY TO
primary_id: MESH:D012514
alt_id: OMIM:148000
xref: EFO:0000558 ; EFO:0002613 ; GARD:6814 ; ICD10CM:C46 ; ICD10CM:C46.0 ; ICD10CM:C46.1 ; ICD10CM:C46.2 ; ICD10CM:C46.3 ; ICD10CM:C46.4 ; ICD10CM:C46.5 ; ICD9CM:176 ; ICD9CM:176.0 ; ICD9CM:176.1 ; ICD9CM:176.2 ; ICD9CM:176.3 ; ICD9CM:176.4 ; ICD9CM:176.5 ; NCI:C27500 ; NCI:C3550 ; NCI:C3551 ; NCI:C4578 ; NCI:C4579 ; NCI:C5363 ; NCI:C5523 ; NCI:C5529 ; NCI:C5602 ; NCI:C5706 ; NCI:C5842 ; NCI:C6377 ; NCI:C6749 ; NCI:C7006 ; NCI:C9087
For additional species annotation, visit the
Alliance of Genome Resources .
G
Fgfr2
fibroblast growth factor receptor 2
ISO
mRNA:increased expression:zone of skin (human)
RGD
PMID:18804962
RGD:155663668
NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079
G
Il6
interleukin 6
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Kaposi's sarcoma
CTD OMIM ClinVar
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 PMID:12560873 PMID:12719374 PMID:15070960 PMID:15331795 PMID:15472205 PMID:16150725 PMID:16278864 PMID:17623760 PMID:18550579 More...
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
G
Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
treatment
IMP
RGD
PMID:21665152
RGD:38599159
NCBI chr12:32,223,128...32,258,675
Ensembl chr12:32,223,472...32,258,658
G
Trp53
transformation related protein 53
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
G
Bcl2
B cell leukemia/lymphoma 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10861090
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
G
Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:14517397
RGD:8655667
NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
G
Gna14
guanine nucleotide binding protein, alpha 14
ISO
ClinVar Annotator: match by term: Kaposiform hemangioendothelioma
ClinVar
PMID:25741868 PMID:27476652
NCBI chr19:16,413,031...16,590,706
Ensembl chr19:16,413,126...16,588,184
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