Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormality of the genital system (HP:0000078)

Grandparent Node:
Neoplasm of the genitourinary tract (HP:0007379)

Parent Node:
Abnormal uterus morphology (HP:0031105)

Parent Node:
Genital neoplasm (HP:0010787)

..Starting node
..Uterine neoplasm (HP:0010784)

Term ID:

10784

Name:

Uterine neoplasm

Synonym:

Uterine cancer; Uterine neoplasia; Uterine tumor; Uterine tumour

Definition:

A tumor (abnormal growth of tissue) of the uterus.

Comments:

Reference:

HP:0010784

Genes and Diseases:

Child Nodes:

........

Uterine leiomyoma (HP:0000131)

........

Uterine leiomyosarcoma (HP:0002891)

........

Endometrial carcinoma (HP:0012114)

........

Cervix cancer (HP:0030079)

Sister Nodes:

Fallopian tube carcinoma (HP:0030394)

Gonadal neoplasm (HP:0010785)

Neoplasm of the male external genitalia (HP:0100848)

Vaginal neoplasm (HP:0100650)

Vulvar neoplasm (HP:0030416)

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:0010784	HP:0010784	Uterine neoplasm	0	AKT1 CL E G H	207	391	OMIM:114500	Colorectal cancer		54
HP:0010784	HP:0010784	Uterine neoplasm	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0010784	HP:0010784	Uterine neoplasm	0	APC CL E G H	324	583	OMIM:114500	Colorectal cancer		3179
HP:0010784	HP:0010784	Uterine neoplasm	0	AURKA CL E G H	6790	11393	OMIM:114500	Colorectal cancer		1
HP:0010784	HP:0010784	Uterine neoplasm	0	AXIN2 CL E G H	8313	904	OMIM:114500	Colorectal cancer		435
HP:0010784	HP:0010784	Uterine neoplasm	0	BAX CL E G H	581	959	OMIM:114500	Colorectal cancer		4
HP:0010784	HP:0010784	Uterine neoplasm	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040284 - Very rare	385
HP:0010784	HP:0010784	Uterine neoplasm	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0010784	HP:0010784	Uterine neoplasm	0	BRAF CL E G H	673	1097	OMIM:114500	Colorectal cancer		276
HP:0010784	HP:0010784	Uterine neoplasm	0	BUB1 CL E G H	699	1148	OMIM:114500	Colorectal cancer		5
HP:0010784	HP:0010784	Uterine neoplasm	0	BUB1B CL E G H	701	1149	OMIM:114500	Colorectal cancer		76
HP:0010784	HP:0010784	Uterine neoplasm	0	CCND1 CL E G H	595	1582	OMIM:114500	Colorectal cancer		1
HP:0010784	HP:0010784	Uterine neoplasm	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome		169
HP:0010784	HP:0010784	Uterine neoplasm	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma		169
HP:0010784	HP:0010784	Uterine neoplasm	0	CDH1 CL E G H	999	1748	OMIM:608089	Endometrial carcinoma, somatic		1003
HP:0010784	HP:0010784	Uterine neoplasm	0	CHEK2 CL E G H	11200	16627	OMIM:114500	Colorectal cancer		833
HP:0010784	HP:0010784	Uterine neoplasm	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional	678
HP:0010784	HP:0010784	Uterine neoplasm	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional	18
HP:0010784	HP:0010784	Uterine neoplasm	0	CTNNB1 CL E G H	1499	2514	OMIM:114500	Colorectal cancer		88
HP:0010784	HP:0010784	Uterine neoplasm	0	DCC CL E G H	1630	2701	OMIM:114500	Colorectal cancer		36
HP:0010784	HP:0010784	Uterine neoplasm	0	DLC1 CL E G H	10395	2897	OMIM:114500	Colorectal cancer		11
HP:0010784	HP:0010784	Uterine neoplasm	0	EP300 CL E G H	2033	3373	OMIM:114500	Colorectal cancer		250
HP:0010784	HP:0010784	Uterine neoplasm	0	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0010784	HP:0010784	Uterine neoplasm	0	FGFR3 CL E G H	2261	3690	OMIM:114500	Colorectal cancer		145
HP:0010784	HP:0010784	Uterine neoplasm	0	FH CL E G H	2271	3700	ORPHA:523	Hereditary leiomyomatosis and renal cell cancer		301
HP:0010784	HP:0010784	Uterine neoplasm	0	FH CL E G H	2271	3700	OMIM:150800	Hereditary leiomyomatosis and renal cell cancer		301
HP:0010784	HP:0010784	Uterine neoplasm	0	FLCN CL E G H	201163	27310	OMIM:114500	Colorectal cancer		332
HP:0010784	HP:0010784	Uterine neoplasm	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional	8
HP:0010784	HP:0010784	Uterine neoplasm	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0010784	HP:0010784	Uterine neoplasm	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0010784	HP:0010784	Uterine neoplasm	0	MCC CL E G H	4163	6935	OMIM:114500	Colorectal cancer		6
HP:0010784	HP:0010784	Uterine neoplasm	0	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome		1819
HP:0010784	HP:0010784	Uterine neoplasm	0	MLH3 CL E G H	27030	7128	OMIM:114500	Colorectal cancer		131
HP:0010784	HP:0010784	Uterine neoplasm	0	MLH3 CL E G H	27030	7128	OMIM:608089	Endometrial carcinoma, somatic		131
HP:0010784	HP:0010784	Uterine neoplasm	0	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome		2162
HP:0010784	HP:0010784	Uterine neoplasm	0	MSH3 CL E G H	4437	7326	OMIM:608089	Endometrial carcinoma, somatic		5
HP:0010784	HP:0010784	Uterine neoplasm	0	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0010784	HP:0010784	Uterine neoplasm	0	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis		5
HP:0010784	HP:0010784	Uterine neoplasm	0	MSH6 CL E G H	2956	7329	OMIM:614350	Colorectal cancer, hereditary nonpolyposis, type 5		2232
HP:0010784	HP:0010784	Uterine neoplasm	0	MSH6 CL E G H	2956	7329	OMIM:608089	Endometrial carcinoma, somatic		2232
HP:0010784	HP:0010784	Uterine neoplasm	0	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome		2232
HP:0010784	HP:0010784	Uterine neoplasm	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0010784	HP:0010784	Uterine neoplasm	0	NRAS CL E G H	4893	7989	OMIM:114500	Colorectal cancer		102
HP:0010784	HP:0010784	Uterine neoplasm	0	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0010784	HP:0010784	Uterine neoplasm	0	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis		2
HP:0010784	HP:0010784	Uterine neoplasm	0	PDGFRL CL E G H	5157	8805	OMIM:114500	Colorectal cancer		2
HP:0010784	HP:0010784	Uterine neoplasm	0	PIK3CA CL E G H	5290	8975	OMIM:114500	Colorectal cancer		162
HP:0010784	HP:0010784	Uterine neoplasm	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0010784	HP:0010784	Uterine neoplasm	0	PLA2G2A CL E G H	5320	9031	OMIM:114500	Colorectal cancer		1
HP:0010784	HP:0010784	Uterine neoplasm	0	PMS2 CL E G H	5395	9122	OMIM:614337	Colorectal cancer, hereditary nonpolyposis, type 4		1121
HP:0010784	HP:0010784	Uterine neoplasm	0	POLD1 CL E G H	5424	9175	OMIM:612591	Colorectal cancer, susceptibility to, 10		731
HP:0010784	HP:0010784	Uterine neoplasm	0	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		731
HP:0010784	HP:0010784	Uterine neoplasm	0	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		1129
HP:0010784	HP:0010784	Uterine neoplasm	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0010784	HP:0010784	Uterine neoplasm	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0010784	HP:0010784	Uterine neoplasm	0	PTPN12 CL E G H	5782	9645	OMIM:114500	Colorectal cancer		1
HP:0010784	HP:0010784	Uterine neoplasm	0	PTPRJ CL E G H	5795	9673	OMIM:114500	Colorectal cancer		3
HP:0010784	HP:0010784	Uterine neoplasm	0	RAD54B CL E G H	25788	17228	OMIM:114500	Colorectal cancer		2
HP:0010784	HP:0010784	Uterine neoplasm	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040284 - Very rare	1
HP:0010784	HP:0010784	Uterine neoplasm	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0010784	HP:0010784	Uterine neoplasm	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0010784	HP:0010784	Uterine neoplasm	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0010784	HP:0010784	Uterine neoplasm	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0010784	HP:0010784	Uterine neoplasm	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040284 - Very rare	48
HP:0010784	HP:0010784	Uterine neoplasm	0	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome		12
HP:0010784	HP:0010784	Uterine neoplasm	0	SRC CL E G H	6714	11283	OMIM:114500	Colorectal cancer		15
HP:0010784	HP:0010784	Uterine neoplasm	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare	1
HP:0010784	HP:0010784	Uterine neoplasm	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome	.	740
HP:0010784	HP:0010784	Uterine neoplasm	0	TLR2 CL E G H	7097	11848	OMIM:114500	Colorectal cancer		5
HP:0010784	HP:0010784	Uterine neoplasm	0	TP53 CL E G H	7157	11998	OMIM:114500	Colorectal cancer		911
HP:0010784	HP:0010784	Uterine neoplasm	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	AKT1 CL E G H	207	391	OMIM:114500	Colorectal cancer	.	54
HP:0010784	HP:0012114	Endometrial carcinoma	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	54
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	APC CL E G H	324	583	OMIM:114500	Colorectal cancer	.	3179
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	AURKA CL E G H	6790	11393	OMIM:114500	Colorectal cancer	.	1
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	AXIN2 CL E G H	8313	904	OMIM:114500	Colorectal cancer	.	435
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	BAX CL E G H	581	959	OMIM:114500	Colorectal cancer	.	4
HP:0010784	HP:0012114	Endometrial carcinoma	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040284 - Very rare	385
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	BRAF CL E G H	673	1097	OMIM:114500	Colorectal cancer	.	276
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	BUB1 CL E G H	699	1148	OMIM:114500	Colorectal cancer	.	5
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	BUB1B CL E G H	701	1149	OMIM:114500	Colorectal cancer	.	76
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	CCND1 CL E G H	595	1582	OMIM:114500	Colorectal cancer	.	1
HP:0010784	HP:0000131	Uterine leiomyoma	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040282 - Frequent	169
HP:0010784	HP:0000131	Uterine leiomyoma	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040282 - Frequent	169
HP:0010784	HP:0012114	Endometrial carcinoma	1	CDH1 CL E G H	999	1748	OMIM:608089	Endometrial carcinoma, somatic	.	1003
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	CHEK2 CL E G H	11200	16627	OMIM:114500	Colorectal cancer	.	833
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	CTNNB1 CL E G H	1499	2514	OMIM:114500	Colorectal cancer	.	88
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	DCC CL E G H	1630	2701	OMIM:114500	Colorectal cancer	.	36
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	DLC1 CL E G H	10395	2897	OMIM:114500	Colorectal cancer	.	11
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	EP300 CL E G H	2033	3373	OMIM:114500	Colorectal cancer	.	250
HP:0010784	HP:0012114	Endometrial carcinoma	1	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	FGFR3 CL E G H	2261	3690	OMIM:114500	Colorectal cancer	.	145
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	FH CL E G H	2271	3700	ORPHA:523	Hereditary leiomyomatosis and renal cell cancer	HP:0040283 - Occasional	301
HP:0010784	HP:0000131	Uterine leiomyoma	1	FH CL E G H	2271	3700	OMIM:150800	Hereditary leiomyomatosis and renal cell cancer	.	301
HP:0010784	HP:0000131	Uterine leiomyoma	1	FH CL E G H	2271	3700	ORPHA:523	Hereditary leiomyomatosis and renal cell cancer	HP:0040283 - Occasional	301
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	FH CL E G H	2271	3700	OMIM:150800	Hereditary leiomyomatosis and renal cell cancer	.	301
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	FLCN CL E G H	201163	27310	OMIM:114500	Colorectal cancer	.	332
HP:0010784	HP:0012114	Endometrial carcinoma	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040284 - Very rare	9
HP:0010784	HP:0012114	Endometrial carcinoma	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	MCC CL E G H	4163	6935	OMIM:114500	Colorectal cancer	.	6
HP:0010784	HP:0012114	Endometrial carcinoma	1	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome	HP:0040283 - Occasional	1819
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	MLH3 CL E G H	27030	7128	OMIM:114500	Colorectal cancer	.	131
HP:0010784	HP:0012114	Endometrial carcinoma	1	MLH3 CL E G H	27030	7128	OMIM:608089	Endometrial carcinoma, somatic	.	131
HP:0010784	HP:0012114	Endometrial carcinoma	1	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome	HP:0040283 - Occasional	2162
HP:0010784	HP:0012114	Endometrial carcinoma	1	MSH3 CL E G H	4437	7326	OMIM:608089	Endometrial carcinoma, somatic	.	5
HP:0010784	HP:0000131	Uterine leiomyoma	1	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0010784	HP:0000131	Uterine leiomyoma	1	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	5
HP:0010784	HP:0012114	Endometrial carcinoma	1	MSH6 CL E G H	2956	7329	OMIM:614350	Colorectal cancer, hereditary nonpolyposis, type 5	.	2232
HP:0010784	HP:0012114	Endometrial carcinoma	1	MSH6 CL E G H	2956	7329	OMIM:608089	Endometrial carcinoma, somatic	.	2232
HP:0010784	HP:0012114	Endometrial carcinoma	1	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome	HP:0040283 - Occasional	2232
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	NRAS CL E G H	4893	7989	OMIM:114500	Colorectal cancer	.	102
HP:0010784	HP:0012114	Endometrial carcinoma	1	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0010784	HP:0012114	Endometrial carcinoma	1	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	2
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	PDGFRL CL E G H	5157	8805	OMIM:114500	Colorectal cancer	.	2
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	PIK3CA CL E G H	5290	8975	OMIM:114500	Colorectal cancer	.	162
HP:0010784	HP:0012114	Endometrial carcinoma	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	162
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	PLA2G2A CL E G H	5320	9031	OMIM:114500	Colorectal cancer	.	1
HP:0010784	HP:0012114	Endometrial carcinoma	1	PMS2 CL E G H	5395	9122	OMIM:614337	Colorectal cancer, hereditary nonpolyposis, type 4	.	1121
HP:0010784	HP:0012114	Endometrial carcinoma	1	POLD1 CL E G H	5424	9175	OMIM:612591	Colorectal cancer, susceptibility to, 10	.	731
HP:0010784	HP:0012114	Endometrial carcinoma	1	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040282 - Frequent	731
HP:0010784	HP:0012114	Endometrial carcinoma	1	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040282 - Frequent	1129
HP:0010784	HP:0012114	Endometrial carcinoma	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	948
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	PTPN12 CL E G H	5782	9645	OMIM:114500	Colorectal cancer	.	1
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	PTPRJ CL E G H	5795	9673	OMIM:114500	Colorectal cancer	.	3
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	RAD54B CL E G H	25788	17228	OMIM:114500	Colorectal cancer	.	2
HP:0010784	HP:0012114	Endometrial carcinoma	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	237
HP:0010784	HP:0012114	Endometrial carcinoma	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	147
HP:0010784	HP:0012114	Endometrial carcinoma	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	129
HP:0010784	HP:0012114	Endometrial carcinoma	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	60
HP:0010784	HP:0012114	Endometrial carcinoma	1	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	HP:0040283 - Occasional	12
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	SRC CL E G H	6714	11283	OMIM:114500	Colorectal cancer	.	15
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	TLR2 CL E G H	7097	11848	OMIM:114500	Colorectal cancer	.	5
HP:0010784	HP:0002891	Uterine leiomyosarcoma	1	TP53 CL E G H	7157	11998	OMIM:114500	Colorectal cancer	.	911
HP:0010784	HP:0012114	Endometrial carcinoma	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1

Genes (58) :AKT1 APC AURKA AXIN2 BAX BMPR1A BRAF BUB1 BUB1B CCND1 CDC73 CDH1 CHEK2 COL4A5 COL4A6 CTNNB1 DCC DLC1 EP300 EPCAM FGFR3 FH FLCN FLI1 GREM1 KLLN MCC MLH1 MLH3 MSH2 MSH3 MSH6 NAB2 NRAS NTHL1 PDGFRL PIK3CA PLA2G2A PMS2 POLD1 POLE PTEN PTPN12 PTPRJ RAD54B RPS20 SDHB SDHC SDHD SEC23B SEMA4A SLC6A17 SRC STAT6 STK11 TLR2 TP53 USF3

Diseases (25) :OMIM:114500 ORPHA:201 ORPHA:440437 ORPHA:157794 ORPHA:99880 ORPHA:143 OMIM:608089 ORPHA:1018 OMIM:613244 ORPHA:523 OMIM:150800 ORPHA:370348 ORPHA:587 OMIM:617100 ORPHA:480536 OMIM:614350 ORPHA:2126 OMIM:616415 ORPHA:454840 OMIM:614337 OMIM:612591 ORPHA:447877 ORPHA:109 ORPHA:457212 OMIM:175200

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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