Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal uterus morphology (HP:0031105)

Grandparent Node:
Genital neoplasm (HP:0010787)

Parent Node:
Leiomyosarcoma (HP:0100243)

Parent Node:
Uterine neoplasm (HP:0010784)

..Starting node
..Uterine leiomyosarcoma (HP:0002891)

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:

Cervix cancer (HP:0030079)

Endometrial carcinoma (HP:0012114)

Uterine leiomyoma (HP:0000131)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	AKT1 CL E G H	207	391	OMIM:114500	Colorectal cancer	.	54
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	APC CL E G H	324	583	OMIM:114500	Colorectal cancer	.	3179
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	AURKA CL E G H	6790	11393	OMIM:114500	Colorectal cancer	.	1
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	AXIN2 CL E G H	8313	904	OMIM:114500	Colorectal cancer	.	435
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	BAX CL E G H	581	959	OMIM:114500	Colorectal cancer	.	4
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	BRAF CL E G H	673	1097	OMIM:114500	Colorectal cancer	.	276
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	BUB1 CL E G H	699	1148	OMIM:114500	Colorectal cancer	.	5
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	BUB1B CL E G H	701	1149	OMIM:114500	Colorectal cancer	.	76
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	CCND1 CL E G H	595	1582	OMIM:114500	Colorectal cancer	.	1
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	CHEK2 CL E G H	11200	16627	OMIM:114500	Colorectal cancer	.	833
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	CTNNB1 CL E G H	1499	2514	OMIM:114500	Colorectal cancer	.	88
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	DCC CL E G H	1630	2701	OMIM:114500	Colorectal cancer	.	36
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	DLC1 CL E G H	10395	2897	OMIM:114500	Colorectal cancer	.	11
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	EP300 CL E G H	2033	3373	OMIM:114500	Colorectal cancer	.	250
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	FGFR3 CL E G H	2261	3690	OMIM:114500	Colorectal cancer	.	145
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	FH CL E G H	2271	3700	OMIM:150800	Hereditary leiomyomatosis and renal cell cancer	.	301
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	FH CL E G H	2271	3700	ORPHA:523	Hereditary leiomyomatosis and renal cell cancer	HP:0040283 - Occasional	301
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	FLCN CL E G H	201163	27310	OMIM:114500	Colorectal cancer	.	332
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	MCC CL E G H	4163	6935	OMIM:114500	Colorectal cancer	.	6
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	MLH3 CL E G H	27030	7128	OMIM:114500	Colorectal cancer	.	131
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	NRAS CL E G H	4893	7989	OMIM:114500	Colorectal cancer	.	102
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	PDGFRL CL E G H	5157	8805	OMIM:114500	Colorectal cancer	.	2
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	PIK3CA CL E G H	5290	8975	OMIM:114500	Colorectal cancer	.	162
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	PLA2G2A CL E G H	5320	9031	OMIM:114500	Colorectal cancer	.	1
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	PTPN12 CL E G H	5782	9645	OMIM:114500	Colorectal cancer	.	1
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	PTPRJ CL E G H	5795	9673	OMIM:114500	Colorectal cancer	.	3
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	RAD54B CL E G H	25788	17228	OMIM:114500	Colorectal cancer	.	2
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	SRC CL E G H	6714	11283	OMIM:114500	Colorectal cancer	.	15
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	TLR2 CL E G H	7097	11848	OMIM:114500	Colorectal cancer	.	5
HP:0002891	HP:0002891	Uterine leiomyosarcoma	0	TP53 CL E G H	7157	11998	OMIM:114500	Colorectal 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 (3) :OMIM:114500 OMIM:150800 ORPHA:523

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

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