Human Phenotype Ontology 
Grandparent Node:
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Abnormal uterus morphology (HP:0031105)help
Grandparent Node:
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Genital neoplasm (HP:0010787)help
Parent Node:
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Leiomyosarcoma (HP:0100243)help
Parent Node:
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Uterine neoplasm (HP:0010784)help
..Starting node
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Uterine leiomyosarcoma (HP:0002891)help
Term ID: 2891
Name: Uterine leiomyosarcoma
Synonym:
Definition: The presence of a leiomyosarcoma of the uterus.
Comments:
Reference: HP:0002891
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCervix cancer (HP:0030079) help
..expandEndometrial carcinoma (HP:0012114) help
..expandUterine leiomyoma (HP:0000131) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002891HP:0002891Uterine leiomyosarcoma0AKT1 CL E G H207114500Carcinoma of colon114500C0699790OMIM1417391164730
HP:0002891HP:0002891Uterine leiomyosarcoma0AKT1 CL E G H207114500Carcinoma of colon114500C0699790OMIM1380391164730
HP:0002891HP:0002891Uterine leiomyosarcoma0APC CL E G H324114500Carcinoma of colon114500C0699790OMIM19051583611731
HP:0002891HP:0002891Uterine leiomyosarcoma0APC CL E G H324114500Carcinoma of colon114500C0699790OMIM19963583611731
HP:0002891HP:0002891Uterine leiomyosarcoma0AXIN2 CL E G H8313114500Carcinoma of colon114500C0699790OMIM12161904604025
HP:0002891HP:0002891Uterine leiomyosarcoma0AXIN2 CL E G H8313114500Carcinoma of colon114500C0699790OMIM11893904604025
HP:0002891HP:0002891Uterine leiomyosarcoma0BUB1B CL E G H701114500Carcinoma of colon114500C0699790OMIM15111149602860
HP:0002891HP:0002891Uterine leiomyosarcoma0BUB1B CL E G H701114500Carcinoma of colon114500C0699790OMIM16171149602860
HP:0002891HP:0002891Uterine leiomyosarcoma0CTNNB1 CL E G H1499114500Carcinoma of colon114500C0699790OMIM13642514116806
HP:0002891HP:0002891Uterine leiomyosarcoma0CTNNB1 CL E G H1499114500Carcinoma of colon114500C0699790OMIM12692514116806
HP:0002891HP:0002891Uterine leiomyosarcoma0DCC CL E G H1630114500Carcinoma of colon114500C0699790OMIM11602701120470
HP:0002891HP:0002891Uterine leiomyosarcoma0DCC CL E G H1630114500Carcinoma of colon114500C0699790OMIM11622701120470
HP:0002891HP:0002891Uterine leiomyosarcoma0DLC1 CL E G H10395114500Carcinoma of colon114500C0699790OMIM11992897604258
HP:0002891HP:0002891Uterine leiomyosarcoma0DLC1 CL E G H10395114500Carcinoma of colon114500C0699790OMIM11962897604258
HP:0002891HP:0002891Uterine leiomyosarcoma0EP300 CL E G H2033114500Carcinoma of colon114500C0699790OMIM16783373602700
HP:0002891HP:0002891Uterine leiomyosarcoma0EP300 CL E G H2033114500Carcinoma of colon114500C0699790OMIM17313373602700
HP:0002891HP:0002891Uterine leiomyosarcoma0FGFR3 CL E G H2261114500Carcinoma of colon114500C0699790OMIM15423690134934
HP:0002891HP:0002891Uterine leiomyosarcoma0FGFR3 CL E G H2261114500Carcinoma of colon114500C0699790OMIM15413690134934
HP:0002891HP:0002891Uterine leiomyosarcoma0FH CL E G H2271150800Multiple cutaneous leiomyomas150800C1708350OMIM111363700136850
HP:0002891HP:0002891Uterine leiomyosarcoma0FH CL E G H2271150800Multiple cutaneous leiomyomas150800C1708350OMIM112923700136850
HP:0002891HP:0002891Uterine leiomyosarcoma0FLCN CL E G H201163114500Carcinoma of colon114500C0699790OMIM1127427310607273
HP:0002891HP:0002891Uterine leiomyosarcoma0FLCN CL E G H201163114500Carcinoma of colon114500C0699790OMIM1143927310607273
HP:0002891HP:0002891Uterine leiomyosarcoma0NRAS CL E G H4893114500Carcinoma of colon114500C0699790OMIM12267989164790
HP:0002891HP:0002891Uterine leiomyosarcoma0NRAS CL E G H4893114500Carcinoma of colon114500C0699790OMIM12127989164790
HP:0002891HP:0002891Uterine leiomyosarcoma0PIK3CA CL E G H5290114500Carcinoma of colon114500C0699790OMIM15448975171834
HP:0002891HP:0002891Uterine leiomyosarcoma0PIK3CA CL E G H5290114500Carcinoma of colon114500C0699790OMIM16138975171834
HP:0002891HP:0002891Uterine leiomyosarcoma0SRC CL E G H6714114500Carcinoma of colon114500C0699790OMIM16111283190090
HP:0002891HP:0002891Uterine leiomyosarcoma0SRC CL E G H6714114500Carcinoma of colon114500C0699790OMIM15911283190090
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002891HP:0002891Uterine leiomyosarcoma0FH CL E G H2271523Acute lymphoblastic leukemia congenital sporadic aniridiaORPHA012923700136850
HP:0002891HP:0002891Uterine leiomyosarcoma0FH CL E G H2271523Acute lymphoblastic leukemia congenital sporadic aniridiaORPHA011363700136850


Genes (14) :AKT1 APC AXIN2 BUB1B CTNNB1 DCC DLC1 EP300 FGFR3 FH FLCN NRAS PIK3CA SRC

Diseases (3) :114500 523 150800
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.