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 male internal genitalia morphology (HP:0000022)

Parent Node:
Abnormal prostate morphology (HP:0008775)

..Starting node
..Prostate neoplasm (HP:0100787)

Term ID:

100787

Name:

Prostate neoplasm

Synonym:

Definition:

Comments:

Reference:

HP:0100787

Genes and Diseases:

Child Nodes:

........

Prostate cancer (HP:0012125)

Sister Nodes:

Benign prostatic hyperplasia (HP:0008711)

Hypoplasia of the prostate (HP:0008687)

Prominent prostate median bar (HP:0008742)

Prostatitis (HP:0000024)

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:0100787	HP:0100787	Prostate neoplasm	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1		7
HP:0100787	HP:0100787	Prostate neoplasm	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0100787	HP:0100787	Prostate neoplasm	0	AR CL E G H	367	644	OMIM:176807	Prostate cancer		125
HP:0100787	HP:0100787	Prostate neoplasm	0	BARD1 CL E G H	580	952	ORPHA:145	Hereditary breast and ovarian cancer syndrome		790
HP:0100787	HP:0100787	Prostate neoplasm	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0100787	HP:0100787	Prostate neoplasm	0	BRCA1 CL E G H	672	1100	ORPHA:145	Hereditary breast and ovarian cancer syndrome		5769
HP:0100787	HP:0100787	Prostate neoplasm	0	BRCA2 CL E G H	675	1101	ORPHA:145	Hereditary breast and ovarian cancer syndrome		7642
HP:0100787	HP:0100787	Prostate neoplasm	0	BRCA2 CL E G H	675	1101	OMIM:176807	Prostate cancer		7642
HP:0100787	HP:0100787	Prostate neoplasm	0	BRIP1 CL E G H	83990	20473	ORPHA:145	Hereditary breast and ovarian cancer syndrome		1086
HP:0100787	HP:0100787	Prostate neoplasm	0	CDH1 CL E G H	999	1748	OMIM:176807	Prostate cancer		1003
HP:0100787	HP:0100787	Prostate neoplasm	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0100787	HP:0100787	Prostate neoplasm	0	CHEK2 CL E G H	11200	16627	ORPHA:145	Hereditary breast and ovarian cancer syndrome		833
HP:0100787	HP:0100787	Prostate neoplasm	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0100787	HP:0100787	Prostate neoplasm	0	CHEK2 CL E G H	11200	16627	OMIM:176807	Prostate cancer		833
HP:0100787	HP:0100787	Prostate neoplasm	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1		2
HP:0100787	HP:0100787	Prostate neoplasm	0	EPHB2 CL E G H	2048	3393	OMIM:603688	Prostate cancer/brain cancer susceptibility		7
HP:0100787	HP:0100787	Prostate neoplasm	0	FOXE1 CL E G H	2304	3806	OMIM:616534	Thyroid cancer, nonmedullary, 4		9
HP:0100787	HP:0100787	Prostate neoplasm	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0100787	HP:0100787	Prostate neoplasm	0	KLF6 CL E G H	1316	2235	OMIM:176807	Prostate cancer		18
HP:0100787	HP:0100787	Prostate neoplasm	0	MAD1L1 CL E G H	8379	6762	OMIM:176807	Prostate cancer		5
HP:0100787	HP:0100787	Prostate neoplasm	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome		1
HP:0100787	HP:0100787	Prostate neoplasm	0	MRE11 CL E G H	4361	7230	ORPHA:145	Hereditary breast and ovarian cancer syndrome		532
HP:0100787	HP:0100787	Prostate neoplasm	0	MXI1 CL E G H	4601	7534	OMIM:176807	Prostate cancer		4
HP:0100787	HP:0100787	Prostate neoplasm	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0100787	HP:0100787	Prostate neoplasm	0	NBN CL E G H	4683	7652	ORPHA:145	Hereditary breast and ovarian cancer syndrome		706
HP:0100787	HP:0100787	Prostate neoplasm	0	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0100787	HP:0100787	Prostate neoplasm	0	PALB2 CL E G H	79728	26144	ORPHA:145	Hereditary breast and ovarian cancer syndrome		1349
HP:0100787	HP:0100787	Prostate neoplasm	0	PTEN CL E G H	5728	9588	ORPHA:145	Hereditary breast and ovarian cancer syndrome		948
HP:0100787	HP:0100787	Prostate neoplasm	0	PTEN CL E G H	5728	9588	OMIM:176807	Prostate cancer		948
HP:0100787	HP:0100787	Prostate neoplasm	0	RAD50 CL E G H	10111	9816	ORPHA:145	Hereditary breast and ovarian cancer syndrome		789
HP:0100787	HP:0100787	Prostate neoplasm	0	RAD51 CL E G H	5888	9817	ORPHA:145	Hereditary breast and ovarian cancer syndrome		9
HP:0100787	HP:0100787	Prostate neoplasm	0	RAD51C CL E G H	5889	9820	ORPHA:145	Hereditary breast and ovarian cancer syndrome		391
HP:0100787	HP:0100787	Prostate neoplasm	0	RAD51D CL E G H	5892	9823	ORPHA:145	Hereditary breast and ovarian cancer syndrome		345
HP:0100787	HP:0100787	Prostate neoplasm	0	RNASEL CL E G H	6041	10050	OMIM:601518	Prostate cancer, hereditary, 1		3
HP:0100787	HP:0100787	Prostate neoplasm	0	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome		5
HP:0100787	HP:0100787	Prostate neoplasm	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma		1
HP:0100787	HP:0100787	Prostate neoplasm	0	TP53 CL E G H	7157	11998	ORPHA:145	Hereditary breast and ovarian cancer syndrome		911
HP:0100787	HP:0100787	Prostate neoplasm	0	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome	.	911
HP:0100787	HP:0100787	Prostate neoplasm	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome		911
HP:0100787	HP:0100787	Prostate neoplasm	0	ZFHX3 CL E G H	463	777	OMIM:176807	Prostate cancer		6
HP:0100787	HP:0012125	Prostate cancer	1	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	7
HP:0100787	HP:0012125	Prostate cancer	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare	3179
HP:0100787	HP:0012125	Prostate cancer	1	AR CL E G H	367	644	OMIM:176807	Prostate cancer	.	125
HP:0100787	HP:0012125	Prostate cancer	1	BARD1 CL E G H	580	952	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional	790
HP:0100787	HP:0012125	Prostate cancer	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040284 - Very rare	385
HP:0100787	HP:0012125	Prostate cancer	1	BRCA1 CL E G H	672	1100	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional	5769
HP:0100787	HP:0012125	Prostate cancer	1	BRCA2 CL E G H	675	1101	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional	7642
HP:0100787	HP:0012125	Prostate cancer	1	BRCA2 CL E G H	675	1101	OMIM:176807	Prostate cancer	.	7642
HP:0100787	HP:0012125	Prostate cancer	1	BRIP1 CL E G H	83990	20473	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional	1086
HP:0100787	HP:0012125	Prostate cancer	1	CDH1 CL E G H	999	1748	OMIM:176807	Prostate cancer	.	1003
HP:0100787	HP:0012125	Prostate cancer	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	289
HP:0100787	HP:0012125	Prostate cancer	1	CHEK2 CL E G H	11200	16627	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional	833
HP:0100787	HP:0012125	Prostate cancer	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	833
HP:0100787	HP:0012125	Prostate cancer	1	CHEK2 CL E G H	11200	16627	OMIM:176807	Prostate cancer	.	833
HP:0100787	HP:0012125	Prostate cancer	1	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	2
HP:0100787	HP:0012125	Prostate cancer	1	EPHB2 CL E G H	2048	3393	OMIM:603688	Prostate cancer/brain cancer susceptibility	.	7
HP:0100787	HP:0012125	Prostate cancer	1	FOXE1 CL E G H	2304	3806	OMIM:616534	Thyroid cancer, nonmedullary, 4		9
HP:0100787	HP:0012125	Prostate cancer	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040284 - Very rare	9
HP:0100787	HP:0012125	Prostate cancer	1	KLF6 CL E G H	1316	2235	OMIM:176807	Prostate cancer	.	18
HP:0100787	HP:0012125	Prostate cancer	1	MAD1L1 CL E G H	8379	6762	OMIM:176807	Prostate cancer	.	5
HP:0100787	HP:0012125	Prostate cancer	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	1
HP:0100787	HP:0012125	Prostate cancer	1	MRE11 CL E G H	4361	7230	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional	532
HP:0100787	HP:0012125	Prostate cancer	1	MXI1 CL E G H	4601	7534	OMIM:176807	Prostate cancer	.	4
HP:0100787	HP:0012125	Prostate cancer	1	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0100787	HP:0012125	Prostate cancer	1	NBN CL E G H	4683	7652	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional	706
HP:0100787	HP:0012125	Prostate cancer	1	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0100787	HP:0012125	Prostate cancer	1	PALB2 CL E G H	79728	26144	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional	1349
HP:0100787	HP:0012125	Prostate cancer	1	PTEN CL E G H	5728	9588	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional	948
HP:0100787	HP:0012125	Prostate cancer	1	PTEN CL E G H	5728	9588	OMIM:176807	Prostate cancer	.	948
HP:0100787	HP:0012125	Prostate cancer	1	RAD50 CL E G H	10111	9816	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional	789
HP:0100787	HP:0012125	Prostate cancer	1	RAD51 CL E G H	5888	9817	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional	9
HP:0100787	HP:0012125	Prostate cancer	1	RAD51C CL E G H	5889	9820	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional	391
HP:0100787	HP:0012125	Prostate cancer	1	RAD51D CL E G H	5892	9823	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional	345
HP:0100787	HP:0012125	Prostate cancer	1	RNASEL CL E G H	6041	10050	OMIM:601518	Prostate cancer, hereditary, 1	.	3
HP:0100787	HP:0012125	Prostate cancer	1	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome	HP:0040284 - Very rare	5
HP:0100787	HP:0012125	Prostate cancer	1	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare	1
HP:0100787	HP:0012125	Prostate cancer	1	TP53 CL E G H	7157	11998	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional	911
HP:0100787	HP:0012125	Prostate cancer	1	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome	.	911
HP:0100787	HP:0012125	Prostate cancer	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	911
HP:0100787	HP:0012125	Prostate cancer	1	ZFHX3 CL E G H	463	777	OMIM:176807	Prostate cancer	.	6

Genes (34) :AAGAB APC AR BARD1 BMPR1A BRCA1 BRCA2 BRIP1 CDH1 CDKN2A CHEK2 COL14A1 EPHB2 FOXE1 GREM1 KLF6 MAD1L1 MDM2 MRE11 MXI1 NAB2 NBN NTHL1 PALB2 PTEN RAD50 RAD51 RAD51C RAD51D RNASEL RNF43 STAT6 TP53 ZFHX3

Diseases (13) :ORPHA:79501 ORPHA:79665 OMIM:176807 ORPHA:145 ORPHA:157794 ORPHA:524 OMIM:603688 OMIM:616534 ORPHA:2126 OMIM:616415 OMIM:601518 ORPHA:157798 OMIM:151623

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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