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Details
Link-It Detail - Disease - Angiomyolipoma
Debug Stats
  • ### Total Build Time: 164 ms 42.428 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 652 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 187 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=10 ms Completed: 10 ms rowSize= 1,018 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=14 ms Completed: 14 ms rowSize= 2.799 KB
  • CONCEPT_RELATIONSHIPS gt=101 ms Completed: 101 ms rowSize= 13.495 KB
  • CONCEPT_GENES gt=24 ms Completed: 24 ms rowSize= 22.818 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Angiomyolipoma C0206633
Definition (1)
A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described.
Semantic Types (1)
Neoplastic Process (T191)
Parents (2)
img Neoplasms, Adipose Tissue C0206631
img Perivascular Epithelioid Cell Neoplasms C1300127
Ancestral Roots
RootRoot Plus OneDepthParent
img Neoplasms C0027651img Neoplasms by Histologic Type C00276525img Neoplasms, Adipose Tissue C0206631
img Neoplasms C0027651img Neoplasms by Histologic Type C00276525img Perivascular Epithelioid Cell Neoplasms C1300127
Relationships (40)

Relation Types:
diso_​to_​anat : 7
diso_​to_​chem : 1
diso_​to_​diso : 30
diso_​to_​phen : 2


Relationships:
none : 24
is_​abnormal_​cell_​of_​disease : 2
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 7
is_​normal_​tissue_​origin_​of_​disease : 1
isa : 3
may_​be_​associated_​disease_​of_​disease : 1
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO254img Kidney Neoplasm C0022665
DISO_to_DISO215img Kidney Neoplasm C0022665
DISO_to_DISO85img Complication Aspects C1171258
DISO_to_DISO69img Complication Aspects C1171258
DISO_to_DISO66img Liver Neoplasms C0023903
DISO_to_DISO60img Tuberous Sclerosis C0041341
DISO_to_DISO57img Liver Neoplasms C0023903
DISO_to_DISO52img Tuberous Sclerosis C0041341
DISO_to_DISO31img Carcinoma, Renal Cell C0007134
DISO_to_DISO27img Carcinoma, Renal Cell C0007134
DISO_to_ANAT24img Cell, Epithelioid C0014603
DISO_to_DISO24img Lymphangioleiomyomatosis C0751674
DISO_to_DISO21img Hemorrhage C0019080
DISO_to_DISO19img Neoplasms, Multiple Primary C0027663
DISO_to_PHEN19img genetic aspects C0017399
DISO_to_DISO18img Lung Neoplasms C0024121
DISO_to_DISO17img Lung Neoplasms C0024121
DISO_to_PHEN16img genetic aspects C0017399
DISO_to_DISO15img Lymphangioleiomyomatosis C0751674
DISO_to_CHEM14img Sirolimus C0072980
DISO_to_DISO14img Retroperitoneal Neoplasms C0035358
DISO_to_DISO13img Hemorrhage C0019080
DISO_to_ANAT12img Cell, Epithelioid C0014603
DISO_to_ANAT12img Inferior vena cava structure C0042458
DISO_to_ANATis_associated_anatomic_site_ofimg Connective and Soft Tissue C1516798
Genes (14)

Species:
human : 14
SpeciesGeneGeneIdGene NameEvidence
HumanCHL110752cell adhesion molecule L1-like
img GENERIF, Score=1000, Pubmed Id: 17592550, UMLKSK CUI: C0206633
HumanTSC27249tuberous sclerosis 2
img GENERIF, Score=1000, Pubmed Id: 18085521, UMLKSK CUI: C0206633
img OMIM, Score=1000, UMLKSK CUI: C0206633
img OMIM, Score=1000, UMLKSK CUI: C0206633
HumanTSC17248tuberous sclerosis 1
img OMIM, Score=1000, UMLKSK CUI: C0206633
img OMIM, Score=1000, UMLKSK CUI: C0206633
HumanTP537157tumor protein p53
img GENERIF, Score=861, Pubmed Id: 18547741, UMLKSK CUI: C0206633
HumanPKD15310polycystic kidney disease 1 (autosomal dominant)
img NCI, Score=801, Pubmed Id: 11812941, UMLKSK CUI: C0206633
HumanOGG149688-oxoguanine DNA glycosylase
img GENERIF, Score=1000, Pubmed Id: 17932460, UMLKSK CUI: C0206633
HumanKIT3815v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
img NCI, Score=801, Pubmed Id: 11914628, UMLKSK CUI: C0206633
HumanIFNG3458interferon, gamma
img OMIM, Score=1000, UMLKSK CUI: C0206633
img GAD, Score=1000, Pubmed Id: 12192641, UMLKSK CUI: C0206633
img OMIM, Score=1000, UMLKSK CUI: C0206633
HumanMLANA2315melan-A
img NCI, Score=801, Pubmed Id: 12920528, UMLKSK CUI: C0206633
img NCI, Score=801, Pubmed Id: 9720495, UMLKSK CUI: C0206633
img NCI, Score=801, Pubmed Id: 11145253, UMLKSK CUI: C0206633
img NCI, Score=801, Pubmed Id: 10389626, UMLKSK CUI: C0206633
img NCI, Score=801, Pubmed Id: 11145253, UMLKSK CUI: C0206633
img NCI, Score=801, Pubmed Id: 11800647, UMLKSK CUI: C0206633
img NCI, Score=801, Pubmed Id: 11145253, UMLKSK CUI: C0206633
HumanDBH1621dopamine beta-hydroxylase (dopamine beta-monooxygenase)
img NCI, Score=801, Pubmed Id: 7849709, UMLKSK CUI: C0206633
HumanCSPG41464chondroitin sulfate proteoglycan 4
img GENERIF, Score=1000, Pubmed Id: 17592550, UMLKSK CUI: C0206633
HumanBRAF673v-raf murine sarcoma viral oncogene homolog B
img GENERIF, Score=1000, Pubmed Id: 16382052, UMLKSK CUI: C0206633
HumanACTC170actin, alpha, cardiac muscle 1
img NCI, Score=801, Pubmed Id: 11033464, UMLKSK CUI: C0206633
HumanABO28ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
img NCI, Score=801, Pubmed Id: 7849709, UMLKSK CUI: C0206633
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0206633Angiomyolipoma0self