Human Phenotype Ontology 
Grandparent Node:
expand
Sarcoma (HP:0100242)help
Parent Node:
expand
Soft tissue sarcoma (HP:0030448)help
..Starting node
..expand
Leiomyosarcoma (HP:0100243)help
Term ID: 100243
Name: Leiomyosarcoma
Synonym:
Definition: A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma.
Comments:
Reference: HP:0100243
Genes and Diseases:
 
       Child Nodes:
........expandUterine leiomyosarcoma (HP:0002891) help
........expandCutaneous leiomyosarcoma (HP:0006755) help

 Sister Nodes: 
..expandAlveolar soft part sarcoma (HP:0012218) help
..expandAngiosarcoma (HP:0200058) help
..expandFibroma (HP:0010614) help
..expandFibrosarcoma (HP:0100244) help
..expandNeurofibrosarcoma (HP:0100697) help
..expandRhabdomyosarcoma (HP:0002859) help
..expandSynovial sarcoma (HP:0012570) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100243HP:0100243Leiomyosarcoma0AKT1 CL E G H207391OMIM:114500Colorectal cancer54
HP:0100243HP:0100243Leiomyosarcoma0APC CL E G H324583OMIM:114500Colorectal cancer3179
HP:0100243HP:0100243Leiomyosarcoma0AURKA CL E G H679011393OMIM:114500Colorectal cancer1
HP:0100243HP:0100243Leiomyosarcoma0AXIN2 CL E G H8313904OMIM:114500Colorectal cancer435
HP:0100243HP:0100243Leiomyosarcoma0BAX CL E G H581959OMIM:114500Colorectal cancer4
HP:0100243HP:0100243Leiomyosarcoma0BRAF CL E G H6731097OMIM:114500Colorectal cancer276
HP:0100243HP:0100243Leiomyosarcoma0BUB1 CL E G H6991148OMIM:114500Colorectal cancer5
HP:0100243HP:0100243Leiomyosarcoma0BUB1B CL E G H7011149OMIM:114500Colorectal cancer76
HP:0100243HP:0100243Leiomyosarcoma0CCND1 CL E G H5951582OMIM:114500Colorectal cancer1
HP:0100243HP:0100243Leiomyosarcoma0CHEK2 CL E G H1120016627OMIM:114500Colorectal cancer833
HP:0100243HP:0100243Leiomyosarcoma0CTNNB1 CL E G H14992514OMIM:114500Colorectal cancer88
HP:0100243HP:0100243Leiomyosarcoma0DCC CL E G H16302701OMIM:114500Colorectal cancer36
HP:0100243HP:0100243Leiomyosarcoma0DLC1 CL E G H103952897OMIM:114500Colorectal cancer11
HP:0100243HP:0100243Leiomyosarcoma0EP300 CL E G H20333373OMIM:114500Colorectal cancer250
HP:0100243HP:0100243Leiomyosarcoma0FGFR3 CL E G H22613690OMIM:114500Colorectal cancer145
HP:0100243HP:0100243Leiomyosarcoma0FH CL E G H22713700OMIM:150800Hereditary leiomyomatosis and renal cell cancer301
HP:0100243HP:0100243Leiomyosarcoma0FH CL E G H22713700ORPHA:523Hereditary leiomyomatosis and renal cell cancer301
HP:0100243HP:0100243Leiomyosarcoma0FLCN CL E G H20116327310OMIM:135150Birt-Hogg-Dube syndrome332
HP:0100243HP:0100243Leiomyosarcoma0FLCN CL E G H20116327310OMIM:114500Colorectal cancer332
HP:0100243HP:0100243Leiomyosarcoma0MCC CL E G H41636935OMIM:114500Colorectal cancer6
HP:0100243HP:0100243Leiomyosarcoma0MLH3 CL E G H270307128OMIM:114500Colorectal cancer131
HP:0100243HP:0100243Leiomyosarcoma0NRAS CL E G H48937989OMIM:114500Colorectal cancer102
HP:0100243HP:0100243Leiomyosarcoma0PDGFRL CL E G H51578805OMIM:114500Colorectal cancer2
HP:0100243HP:0100243Leiomyosarcoma0PIK3CA CL E G H52908975OMIM:114500Colorectal cancer162
HP:0100243HP:0100243Leiomyosarcoma0PLA2G2A CL E G H53209031OMIM:114500Colorectal cancer1
HP:0100243HP:0100243Leiomyosarcoma0PTPN12 CL E G H57829645OMIM:114500Colorectal cancer1
HP:0100243HP:0100243Leiomyosarcoma0PTPRJ CL E G H57959673OMIM:114500Colorectal cancer3
HP:0100243HP:0100243Leiomyosarcoma0RAD54B CL E G H2578817228OMIM:114500Colorectal cancer2
HP:0100243HP:0100243Leiomyosarcoma0SRC CL E G H671411283OMIM:114500Colorectal cancer15
HP:0100243HP:0100243Leiomyosarcoma0TLR2 CL E G H709711848OMIM:114500Colorectal cancer5
HP:0100243HP:0100243Leiomyosarcoma0TP53 CL E G H715711998OMIM:114500Colorectal cancer911
HP:0100243HP:0002891Uterine leiomyosarcoma1AKT1 CL E G H207391OMIM:114500Colorectal cancer.54
HP:0100243HP:0002891Uterine leiomyosarcoma1APC CL E G H324583OMIM:114500Colorectal cancer.3179
HP:0100243HP:0002891Uterine leiomyosarcoma1AURKA CL E G H679011393OMIM:114500Colorectal cancer.1
HP:0100243HP:0002891Uterine leiomyosarcoma1AXIN2 CL E G H8313904OMIM:114500Colorectal cancer.435
HP:0100243HP:0002891Uterine leiomyosarcoma1BAX CL E G H581959OMIM:114500Colorectal cancer.4
HP:0100243HP:0002891Uterine leiomyosarcoma1BRAF CL E G H6731097OMIM:114500Colorectal cancer.276
HP:0100243HP:0002891Uterine leiomyosarcoma1BUB1 CL E G H6991148OMIM:114500Colorectal cancer.5
HP:0100243HP:0002891Uterine leiomyosarcoma1BUB1B CL E G H7011149OMIM:114500Colorectal cancer.76
HP:0100243HP:0002891Uterine leiomyosarcoma1CCND1 CL E G H5951582OMIM:114500Colorectal cancer.1
HP:0100243HP:0002891Uterine leiomyosarcoma1CHEK2 CL E G H1120016627OMIM:114500Colorectal cancer.833
HP:0100243HP:0002891Uterine leiomyosarcoma1CTNNB1 CL E G H14992514OMIM:114500Colorectal cancer.88
HP:0100243HP:0002891Uterine leiomyosarcoma1DCC CL E G H16302701OMIM:114500Colorectal cancer.36
HP:0100243HP:0002891Uterine leiomyosarcoma1DLC1 CL E G H103952897OMIM:114500Colorectal cancer.11
HP:0100243HP:0002891Uterine leiomyosarcoma1EP300 CL E G H20333373OMIM:114500Colorectal cancer.250
HP:0100243HP:0002891Uterine leiomyosarcoma1FGFR3 CL E G H22613690OMIM:114500Colorectal cancer.145
HP:0100243HP:0006755Cutaneous leiomyosarcoma1FH CL E G H22713700OMIM:150800Hereditary leiomyomatosis and renal cell cancerHP:0040283 - Occasional301
HP:0100243HP:0002891Uterine leiomyosarcoma1FH CL E G H22713700ORPHA:523Hereditary leiomyomatosis and renal cell cancerHP:0040283 - Occasional301
HP:0100243HP:0002891Uterine leiomyosarcoma1FH CL E G H22713700OMIM:150800Hereditary leiomyomatosis and renal cell cancer.301
HP:0100243HP:0006755Cutaneous leiomyosarcoma1FLCN CL E G H20116327310OMIM:135150Birt-Hogg-Dube syndrome332
HP:0100243HP:0002891Uterine leiomyosarcoma1FLCN CL E G H20116327310OMIM:114500Colorectal cancer.332
HP:0100243HP:0002891Uterine leiomyosarcoma1MCC CL E G H41636935OMIM:114500Colorectal cancer.6
HP:0100243HP:0002891Uterine leiomyosarcoma1MLH3 CL E G H270307128OMIM:114500Colorectal cancer.131
HP:0100243HP:0002891Uterine leiomyosarcoma1NRAS CL E G H48937989OMIM:114500Colorectal cancer.102
HP:0100243HP:0002891Uterine leiomyosarcoma1PDGFRL CL E G H51578805OMIM:114500Colorectal cancer.2
HP:0100243HP:0002891Uterine leiomyosarcoma1PIK3CA CL E G H52908975OMIM:114500Colorectal cancer.162
HP:0100243HP:0002891Uterine leiomyosarcoma1PLA2G2A CL E G H53209031OMIM:114500Colorectal cancer.1
HP:0100243HP:0002891Uterine leiomyosarcoma1PTPN12 CL E G H57829645OMIM:114500Colorectal cancer.1
HP:0100243HP:0002891Uterine leiomyosarcoma1PTPRJ CL E G H57959673OMIM:114500Colorectal cancer.3
HP:0100243HP:0002891Uterine leiomyosarcoma1RAD54B CL E G H2578817228OMIM:114500Colorectal cancer.2
HP:0100243HP:0002891Uterine leiomyosarcoma1SRC CL E G H671411283OMIM:114500Colorectal cancer.15
HP:0100243HP:0002891Uterine leiomyosarcoma1TLR2 CL E G H709711848OMIM:114500Colorectal cancer.5
HP:0100243HP:0002891Uterine leiomyosarcoma1TP53 CL E G H715711998OMIM:114500Colorectal cancer.911


Genes (29) :AKT1 APC AURKA AXIN2 BAX BRAF BUB1 BUB1B CCND1 CHEK2 CTNNB1 DCC DLC1 EP300 FGFR3 FH FLCN MCC MLH3 NRAS PDGFRL PIK3CA PLA2G2A PTPN12 PTPRJ RAD54B SRC TLR2 TP53

Diseases (4) :OMIM:114500 OMIM:150800 ORPHA:523 OMIM:135150
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.