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; multiple idiopathic pigmented hemangiosarcoma
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; 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; iatrogenic Kaposi's sarcoma; intestinal Kaposi's sarcoma; lymph node Kaposi's sarcoma; lymphadenopathic Kaposi's sarcoma; palate Kaposi's sarcoma; penis Kaposi's sarcoma; prostate Kaposi's sarcoma; pulmonary Kaposi's sarcoma; soft tissue Kaposi's sarcoma
broad_synonym: BPTF-RELATED CONDITION
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: MIM: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 ; MONDO:0005055 ; 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 .
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Bptf
bromodomain PHD finger transcription factor
susceptibility
ISO
ClinVar Annotator: match by term: Kaposi sarcoma, susceptibility to
ClinVar OMIM
PMID:28492532 PMID:38380509
NCBI chr10:91,980,279...92,082,731
Ensembl chr10:91,982,758...92,082,769
G
Fgfr2
fibroblast growth factor receptor 2
ISO
mRNA:increased expression:zone of skin (human)
RGD
PMID:18804962
RGD:155663668
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
G
Il6
interleukin 6
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 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
treatment
ISO
RGD
PMID:21665152
RGD:38599159
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
G
Tp53
tumor protein p53
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10861090
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:14517397
RGD:8655667
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
G
Gna14
G protein subunit alpha 14
ISO
ClinVar Annotator: match by term: Kaposiform hemangioendothelioma
ClinVar
PMID:25741868 PMID:27476652
NCBI chr 1:213,714,993...213,900,083
Ensembl chr 1:213,716,020...213,897,423
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all