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:
Abnormal breast morphology (HP:0031093)

Grandparent Node:
Neoplasm by anatomical site (HP:0011793)

Parent Node:
Neoplasm of the breast (HP:0100013)

..Starting node
..Breast carcinoma (HP:0003002)

Term ID:

3002

Name:

Breast carcinoma

Synonym:

Breast cancer

Definition:

The presence of a carcinoma of the breast.

Comments:

Reference:

HP:0003002

Genes and Diseases:

Child Nodes:

........

Multifocal breast carcinoma (HP:0006625)

Sister Nodes:

Ductal carcinoma in situ (HP:0030075)

Fibroadenoma of the breast (HP:0010619)

Lobular carcinoma in situ (HP:0030076)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003002	HP:0003002	Breast carcinoma	0	AAGAB CL E G H	79719	79501				ORPHA	1	87	25662	614888
HP:0003002	HP:0003002	Breast carcinoma	0	AAGAB CL E G H	79719	79501				ORPHA	1	82	25662	614888
HP:0003002	HP:0003002	Breast carcinoma	0	AKT1 CL E G H	207	201				ORPHA	1	417	391	164730
HP:0003002	HP:0003002	Breast carcinoma	0	AKT1 CL E G H	207	201				ORPHA	1	380	391	164730
HP:0003002	HP:0003002	Breast carcinoma	0	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	417	391	164730
HP:0003002	HP:0003002	Breast carcinoma	0	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	380	391	164730
HP:0003002	HP:0003002	Breast carcinoma	0	AKT1 CL E G H	207	114480	Familial cancer of breast	114480	C0346153	OMIM	1	417	391	164730
HP:0003002	HP:0003002	Breast carcinoma	0	AKT1 CL E G H	207	114480	Familial cancer of breast	114480	C0346153	OMIM	1	380	391	164730
HP:0003002	HP:0003002	Breast carcinoma	0	AKT1 CL E G H	207	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	417	391	164730
HP:0003002	HP:0003002	Breast carcinoma	0	AKT1 CL E G H	207	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	380	391	164730
HP:0003002	HP:0003002	Breast carcinoma	0	BARD1 CL E G H	580	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2773	952	601593
HP:0003002	HP:0003002	Breast carcinoma	0	BARD1 CL E G H	580	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2555	952	601593
HP:0003002	HP:0003002	Breast carcinoma	0	BRCA1 CL E G H	672	114480	Familial cancer of breast	114480	C0346153	OMIM	1	12586	1100	113705
HP:0003002	HP:0003002	Breast carcinoma	0	BRCA1 CL E G H	672	114480	Familial cancer of breast	114480	C0346153	OMIM	1	12207	1100	113705
HP:0003002	HP:0003002	Breast carcinoma	0	BRCA1 CL E G H	672	617883	FANCONI ANEMIA, COMPLEMENTATION GROUP S	617883	CN850168	OMIM	1	12586	1100	113705
HP:0003002	HP:0003002	Breast carcinoma	0	BRCA1 CL E G H	672	617883	FANCONI ANEMIA, COMPLEMENTATION GROUP S	617883	CN850168	OMIM	1	12207	1100	113705
HP:0003002	HP:0003002	Breast carcinoma	0	BRCA1 CL E G H	672	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	12586	1100	113705
HP:0003002	HP:0003002	Breast carcinoma	0	BRCA1 CL E G H	672	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	12207	1100	113705
HP:0003002	HP:0003002	Breast carcinoma	0	BRCA2 CL E G H	675	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	14742	1101	600185
HP:0003002	HP:0003002	Breast carcinoma	0	BRCA2 CL E G H	675	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	13912	1101	600185
HP:0003002	HP:0003002	Breast carcinoma	0	BRIP1 CL E G H	83990	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	3778	20473	605882
HP:0003002	HP:0003002	Breast carcinoma	0	BRIP1 CL E G H	83990	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	3464	20473	605882
HP:0003002	HP:0003002	Breast carcinoma	0	CDH1 CL E G H	999	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	3046	1748	192090
HP:0003002	HP:0003002	Breast carcinoma	0	CDH1 CL E G H	999	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	2818	1748	192090
HP:0003002	HP:0003002	Breast carcinoma	0	CDKN2A CL E G H	1029	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	1	1062	1787	600160
HP:0003002	HP:0003002	Breast carcinoma	0	CDKN2A CL E G H	1029	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	1	971	1787	600160
HP:0003002	HP:0003002	Breast carcinoma	0	CHEK2 CL E G H	11200	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	1	2851	16627	604373
HP:0003002	HP:0003002	Breast carcinoma	0	CHEK2 CL E G H	11200	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	1	2594	16627	604373
HP:0003002	HP:0003002	Breast carcinoma	0	CHEK2 CL E G H	11200	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2851	16627	604373
HP:0003002	HP:0003002	Breast carcinoma	0	CHEK2 CL E G H	11200	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2594	16627	604373
HP:0003002	HP:0003002	Breast carcinoma	0	CHEK2 CL E G H	11200	609265	Li-Fraumeni syndrome 2	609265	C1836482	OMIM	1	2851	16627	604373
HP:0003002	HP:0003002	Breast carcinoma	0	CHEK2 CL E G H	11200	609265	Li-Fraumeni syndrome 2	609265	C1836482	OMIM	1	2594	16627	604373
HP:0003002	HP:0003002	Breast carcinoma	0	COL14A1 CL E G H	7373	79501				ORPHA	1	155	2191	120324
HP:0003002	HP:0003002	Breast carcinoma	0	CTNNB1 CL E G H	1499	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	364	2514	116806
HP:0003002	HP:0003002	Breast carcinoma	0	CTNNB1 CL E G H	1499	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	269	2514	116806
HP:0003002	HP:0003002	Breast carcinoma	0	ESR1 CL E G H	2099	114480	Familial cancer of breast	114480	C0346153	OMIM	1	185	3467	133430
HP:0003002	HP:0003002	Breast carcinoma	0	ESR1 CL E G H	2099	114480	Familial cancer of breast	114480	C0346153	OMIM	1	181	3467	133430
HP:0003002	HP:0003002	Breast carcinoma	0	FGFR2 CL E G H	2263	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	501	3689	176943
HP:0003002	HP:0003002	Breast carcinoma	0	FGFR2 CL E G H	2263	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	466	3689	176943
HP:0003002	HP:0003002	Breast carcinoma	0	KLLN CL E G H	100144748	201				ORPHA	1	270	37212	612105
HP:0003002	HP:0003002	Breast carcinoma	0	KLLN CL E G H	100144748	201				ORPHA	1	248	37212	612105
HP:0003002	HP:0003002	Breast carcinoma	0	KRAS CL E G H	3845	114480	Familial cancer of breast	114480	C0346153	OMIM	1	341	6407	190070
HP:0003002	HP:0003002	Breast carcinoma	0	KRAS CL E G H	3845	114480	Familial cancer of breast	114480	C0346153	OMIM	1	331	6407	190070
HP:0003002	HP:0003002	Breast carcinoma	0	MDM2 CL E G H	4193	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	1	75	6973	164785
HP:0003002	HP:0003002	Breast carcinoma	0	MDM2 CL E G H	4193	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	1	49	6973	164785
HP:0003002	HP:0003002	Breast carcinoma	0	MLH1 CL E G H	4292	158320	Muir-Torré syndrome	158320	C1321489	OMIM	1	3763	7127	120436
HP:0003002	HP:0003002	Breast carcinoma	0	MLH1 CL E G H	4292	158320	Muir-Torré syndrome	158320	C1321489	OMIM	1	3540	7127	120436
HP:0003002	HP:0003002	Breast carcinoma	0	MRE11 CL E G H	4361	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	1259	7230	600814
HP:0003002	HP:0003002	Breast carcinoma	0	MRE11 CL E G H	4361	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	1258	7230	600814
HP:0003002	HP:0003002	Breast carcinoma	0	MSH2 CL E G H	4436	158320	Muir-Torré syndrome	158320	C1321489	OMIM	1	4964	7325	609309
HP:0003002	HP:0003002	Breast carcinoma	0	MSH2 CL E G H	4436	158320	Muir-Torré syndrome	158320	C1321489	OMIM	1	4607	7325	609309
HP:0003002	HP:0003002	Breast carcinoma	0	NBN CL E G H	4683	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2640	7652	602667
HP:0003002	HP:0003002	Breast carcinoma	0	NBN CL E G H	4683	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2402	7652	602667
HP:0003002	HP:0003002	Breast carcinoma	0	NTHL1 CL E G H	4913	454840				ORPHA	1	902	8028	602656
HP:0003002	HP:0003002	Breast carcinoma	0	NTHL1 CL E G H	4913	454840				ORPHA	1	755	8028	602656
HP:0003002	HP:0003002	Breast carcinoma	0	NTHL1 CL E G H	4913	616415	Familial adenomatous polyposis 3	616415	C4225157	OMIM	1	902	8028	602656
HP:0003002	HP:0003002	Breast carcinoma	0	NTHL1 CL E G H	4913	616415	Familial adenomatous polyposis 3	616415	C4225157	OMIM	1	755	8028	602656
HP:0003002	HP:0003002	Breast carcinoma	0	OPCML CL E G H	4978	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	112	8143	600632
HP:0003002	HP:0003002	Breast carcinoma	0	PALB2 CL E G H	79728	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	4245	26144	610355
HP:0003002	HP:0003002	Breast carcinoma	0	PALB2 CL E G H	79728	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	3925	26144	610355
HP:0003002	HP:0003002	Breast carcinoma	0	PIK3CA CL E G H	5290	201				ORPHA	1	613	8975	171834
HP:0003002	HP:0003002	Breast carcinoma	0	PIK3CA CL E G H	5290	201				ORPHA	1	544	8975	171834
HP:0003002	HP:0003002	Breast carcinoma	0	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	613	8975	171834
HP:0003002	HP:0003002	Breast carcinoma	0	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	544	8975	171834
HP:0003002	HP:0003002	Breast carcinoma	0	PIK3CA CL E G H	5290	114480	Familial cancer of breast	114480	C0346153	OMIM	1	613	8975	171834
HP:0003002	HP:0003002	Breast carcinoma	0	PIK3CA CL E G H	5290	114480	Familial cancer of breast	114480	C0346153	OMIM	1	544	8975	171834
HP:0003002	HP:0003002	Breast carcinoma	0	PIK3CA CL E G H	5290	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	613	8975	171834
HP:0003002	HP:0003002	Breast carcinoma	0	PIK3CA CL E G H	5290	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	544	8975	171834
HP:0003002	HP:0003002	Breast carcinoma	0	PPM1D CL E G H	8493	114480	Familial cancer of breast	114480	C0346153	OMIM	1	122	9277	605100
HP:0003002	HP:0003002	Breast carcinoma	0	PPM1D CL E G H	8493	114480	Familial cancer of breast	114480	C0346153	OMIM	1	116	9277	605100
HP:0003002	HP:0003002	Breast carcinoma	0	PRKN CL E G H	5071	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	620	8607	602544
HP:0003002	HP:0003002	Breast carcinoma	0	PRKN CL E G H	5071	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	576	8607	602544
HP:0003002	HP:0003002	Breast carcinoma	0	PTEN CL E G H	5728	201				ORPHA	1	2416	9588	601728
HP:0003002	HP:0003002	Breast carcinoma	0	PTEN CL E G H	5728	201				ORPHA	1	2246	9588	601728
HP:0003002	HP:0003002	Breast carcinoma	0	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	2416	9588	601728
HP:0003002	HP:0003002	Breast carcinoma	0	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	2246	9588	601728
HP:0003002	HP:0003002	Breast carcinoma	0	PTEN CL E G H	5728	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2416	9588	601728
HP:0003002	HP:0003002	Breast carcinoma	0	PTEN CL E G H	5728	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2246	9588	601728
HP:0003002	HP:0003002	Breast carcinoma	0	RAD50 CL E G H	10111	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2928	9816	604040
HP:0003002	HP:0003002	Breast carcinoma	0	RAD50 CL E G H	10111	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2611	9816	604040
HP:0003002	HP:0003002	Breast carcinoma	0	RAD51 CL E G H	5888	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	81	9817	179617
HP:0003002	HP:0003002	Breast carcinoma	0	RAD51 CL E G H	5888	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	72	9817	179617
HP:0003002	HP:0003002	Breast carcinoma	0	RAD51C CL E G H	5889	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	1422	9820	602774
HP:0003002	HP:0003002	Breast carcinoma	0	RAD51C CL E G H	5889	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	1310	9820	602774
HP:0003002	HP:0003002	Breast carcinoma	0	RAD51D CL E G H	5892	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	1216	9823	602954
HP:0003002	HP:0003002	Breast carcinoma	0	RAD51D CL E G H	5892	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	1132	9823	602954
HP:0003002	HP:0003002	Breast carcinoma	0	RB1CC1 CL E G H	9821	114480	Familial cancer of breast	114480	C0346153	OMIM	1	83	15574	606837
HP:0003002	HP:0003002	Breast carcinoma	0	SDHB CL E G H	6390	201				ORPHA	1	926	10681	185470
HP:0003002	HP:0003002	Breast carcinoma	0	SDHB CL E G H	6390	201				ORPHA	1	824	10681	185470
HP:0003002	HP:0003002	Breast carcinoma	0	SDHC CL E G H	6391	201				ORPHA	1	575	10682	602413
HP:0003002	HP:0003002	Breast carcinoma	0	SDHC CL E G H	6391	201				ORPHA	1	526	10682	602413
HP:0003002	HP:0003002	Breast carcinoma	0	SDHD CL E G H	6392	201				ORPHA	1	507	10683	602690
HP:0003002	HP:0003002	Breast carcinoma	0	SDHD CL E G H	6392	201				ORPHA	1	442	10683	602690
HP:0003002	HP:0003002	Breast carcinoma	0	SEC23B CL E G H	10483	201				ORPHA	1	236	10702	610512
HP:0003002	HP:0003002	Breast carcinoma	0	SEC23B CL E G H	10483	201				ORPHA	1	222	10702	610512
HP:0003002	HP:0003002	Breast carcinoma	0	SEC23B CL E G H	10483	616858	616858	616858		OMIM	1	236	10702	610512
HP:0003002	HP:0003002	Breast carcinoma	0	SEC23B CL E G H	10483	616858	616858	616858		OMIM	1	222	10702	610512
HP:0003002	HP:0003002	Breast carcinoma	0	SLC22A18 CL E G H	5002	114480	Familial cancer of breast	114480	C0346153	OMIM	1	40	10964	602631
HP:0003002	HP:0003002	Breast carcinoma	0	SLC22A18 CL E G H	5002	114480	Familial cancer of breast	114480	C0346153	OMIM	1	39	10964	602631
HP:0003002	HP:0003002	Breast carcinoma	0	STK11 CL E G H	6794	175200	Peutz-Jeghers syndrome	175200	C0031269	OMIM	1	1945	11389	602216
HP:0003002	HP:0003002	Breast carcinoma	0	STK11 CL E G H	6794	175200	Peutz-Jeghers syndrome	175200	C0031269	OMIM	1	1820	11389	602216
HP:0003002	HP:0003002	Breast carcinoma	0	TP53 CL E G H	7157	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	1	2464	11998	191170
HP:0003002	HP:0003002	Breast carcinoma	0	TP53 CL E G H	7157	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	1	2280	11998	191170
HP:0003002	HP:0003002	Breast carcinoma	0	TP53 CL E G H	7157	114480	Familial cancer of breast	114480	C0346153	OMIM	1	2464	11998	191170
HP:0003002	HP:0003002	Breast carcinoma	0	TP53 CL E G H	7157	114480	Familial cancer of breast	114480	C0346153	OMIM	1	2280	11998	191170
HP:0003002	HP:0003002	Breast carcinoma	0	TP53 CL E G H	7157	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2464	11998	191170
HP:0003002	HP:0003002	Breast carcinoma	0	TP53 CL E G H	7157	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2280	11998	191170
HP:0003002	HP:0003002	Breast carcinoma	0	TP53 CL E G H	7157	151623	Li-Fraumeni syndrome 1	151623	C1835398	OMIM	1	2464	11998	191170
HP:0003002	HP:0003002	Breast carcinoma	0	TP53 CL E G H	7157	151623	Li-Fraumeni syndrome 1	151623	C1835398	OMIM	1	2280	11998	191170
HP:0003002	HP:0003002	Breast carcinoma	0	TWIST1 CL E G H	7291	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	163	12428	601622
HP:0003002	HP:0003002	Breast carcinoma	0	TWIST1 CL E G H	7291	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	142	12428	601622
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	AAGAB CL E G H	79719	79501				ORPHA	1	87	25662	614888
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	AAGAB CL E G H	79719	79501				ORPHA	1	82	25662	614888
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	AKT1 CL E G H	207	201				ORPHA	1	417	391	164730
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	AKT1 CL E G H	207	201				ORPHA	1	380	391	164730
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	417	391	164730
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	380	391	164730
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	AKT1 CL E G H	207	114480	Familial cancer of breast	114480	C0346153	OMIM	1	417	391	164730
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	AKT1 CL E G H	207	114480	Familial cancer of breast	114480	C0346153	OMIM	1	380	391	164730
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	AKT1 CL E G H	207	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	417	391	164730
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	AKT1 CL E G H	207	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	380	391	164730
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	BARD1 CL E G H	580	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2773	952	601593
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	BARD1 CL E G H	580	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2555	952	601593
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	BRCA1 CL E G H	672	114480	Familial cancer of breast	114480	C0346153	OMIM	1	12586	1100	113705
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	BRCA1 CL E G H	672	114480	Familial cancer of breast	114480	C0346153	OMIM	1	12207	1100	113705
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	BRCA1 CL E G H	672	617883	FANCONI ANEMIA, COMPLEMENTATION GROUP S	617883	CN850168	OMIM	1	12586	1100	113705
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	BRCA1 CL E G H	672	617883	FANCONI ANEMIA, COMPLEMENTATION GROUP S	617883	CN850168	OMIM	1	12207	1100	113705
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	BRCA1 CL E G H	672	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	12586	1100	113705
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	BRCA1 CL E G H	672	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	12207	1100	113705
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	BRCA2 CL E G H	675	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	14742	1101	600185
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	BRCA2 CL E G H	675	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	13912	1101	600185
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	BRIP1 CL E G H	83990	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	3778	20473	605882
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	BRIP1 CL E G H	83990	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	3464	20473	605882
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	CDH1 CL E G H	999	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	3046	1748	192090
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	CDH1 CL E G H	999	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	2818	1748	192090
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	CDKN2A CL E G H	1029	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	1	1062	1787	600160
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	CDKN2A CL E G H	1029	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	1	971	1787	600160
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	CHEK2 CL E G H	11200	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	1	2851	16627	604373
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	CHEK2 CL E G H	11200	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	1	2594	16627	604373
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	CHEK2 CL E G H	11200	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2851	16627	604373
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	CHEK2 CL E G H	11200	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2594	16627	604373
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	CHEK2 CL E G H	11200	609265	Li-Fraumeni syndrome 2	609265	C1836482	OMIM	1	2851	16627	604373
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	CHEK2 CL E G H	11200	609265	Li-Fraumeni syndrome 2	609265	C1836482	OMIM	1	2594	16627	604373
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	COL14A1 CL E G H	7373	79501				ORPHA	1	155	2191	120324
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	CTNNB1 CL E G H	1499	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	364	2514	116806
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	CTNNB1 CL E G H	1499	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	269	2514	116806
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	ESR1 CL E G H	2099	114480	Familial cancer of breast	114480	C0346153	OMIM	1	185	3467	133430
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	ESR1 CL E G H	2099	114480	Familial cancer of breast	114480	C0346153	OMIM	1	181	3467	133430
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	FGFR2 CL E G H	2263	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	501	3689	176943
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	FGFR2 CL E G H	2263	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	466	3689	176943
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	KLLN CL E G H	100144748	201				ORPHA	1	270	37212	612105
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	KLLN CL E G H	100144748	201				ORPHA	1	248	37212	612105
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	KRAS CL E G H	3845	114480	Familial cancer of breast	114480	C0346153	OMIM	1	341	6407	190070
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	KRAS CL E G H	3845	114480	Familial cancer of breast	114480	C0346153	OMIM	1	331	6407	190070
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	MDM2 CL E G H	4193	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	1	75	6973	164785
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	MDM2 CL E G H	4193	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	1	49	6973	164785
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	MLH1 CL E G H	4292	158320	Muir-Torré syndrome	158320	C1321489	OMIM	1	3763	7127	120436
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	MLH1 CL E G H	4292	158320	Muir-Torré syndrome	158320	C1321489	OMIM	1	3540	7127	120436
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	MRE11 CL E G H	4361	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	1259	7230	600814
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	MRE11 CL E G H	4361	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	1258	7230	600814
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	MSH2 CL E G H	4436	158320	Muir-Torré syndrome	158320	C1321489	OMIM	1	4964	7325	609309
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	MSH2 CL E G H	4436	158320	Muir-Torré syndrome	158320	C1321489	OMIM	1	4607	7325	609309
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	NBN CL E G H	4683	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2640	7652	602667
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	NBN CL E G H	4683	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2402	7652	602667
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	NTHL1 CL E G H	4913	454840				ORPHA	1	902	8028	602656
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	NTHL1 CL E G H	4913	454840				ORPHA	1	755	8028	602656
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	NTHL1 CL E G H	4913	616415	Familial adenomatous polyposis 3	616415	C4225157	OMIM	1	902	8028	602656
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	NTHL1 CL E G H	4913	616415	Familial adenomatous polyposis 3	616415	C4225157	OMIM	1	755	8028	602656
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	OPCML CL E G H	4978	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	112	8143	600632
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PALB2 CL E G H	79728	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	4245	26144	610355
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PALB2 CL E G H	79728	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	3925	26144	610355
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PIK3CA CL E G H	5290	201				ORPHA	1	613	8975	171834
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PIK3CA CL E G H	5290	201				ORPHA	1	544	8975	171834
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	613	8975	171834
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	544	8975	171834
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PIK3CA CL E G H	5290	114480	Familial cancer of breast	114480	C0346153	OMIM	1	613	8975	171834
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PIK3CA CL E G H	5290	114480	Familial cancer of breast	114480	C0346153	OMIM	1	544	8975	171834
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PIK3CA CL E G H	5290	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	613	8975	171834
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PIK3CA CL E G H	5290	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	544	8975	171834
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PPM1D CL E G H	8493	114480	Familial cancer of breast	114480	C0346153	OMIM	1	122	9277	605100
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PPM1D CL E G H	8493	114480	Familial cancer of breast	114480	C0346153	OMIM	1	116	9277	605100
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PRKN CL E G H	5071	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	620	8607	602544
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PRKN CL E G H	5071	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	576	8607	602544
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PTEN CL E G H	5728	201				ORPHA	1	2416	9588	601728
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PTEN CL E G H	5728	201				ORPHA	1	2246	9588	601728
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	2416	9588	601728
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	2246	9588	601728
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PTEN CL E G H	5728	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2416	9588	601728
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PTEN CL E G H	5728	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2246	9588	601728
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	RAD50 CL E G H	10111	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2928	9816	604040
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	RAD50 CL E G H	10111	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2611	9816	604040
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	RAD51 CL E G H	5888	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	81	9817	179617
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	RAD51 CL E G H	5888	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	72	9817	179617
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	RAD51C CL E G H	5889	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	1422	9820	602774
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	RAD51C CL E G H	5889	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	1310	9820	602774
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	RAD51D CL E G H	5892	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	1216	9823	602954
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	RAD51D CL E G H	5892	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	1132	9823	602954
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	RB1CC1 CL E G H	9821	114480	Familial cancer of breast	114480	C0346153	OMIM	1	83	15574	606837
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	SDHB CL E G H	6390	201				ORPHA	1	926	10681	185470
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	SDHB CL E G H	6390	201				ORPHA	1	824	10681	185470
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	SDHC CL E G H	6391	201				ORPHA	1	575	10682	602413
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	SDHC CL E G H	6391	201				ORPHA	1	526	10682	602413
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	SDHD CL E G H	6392	201				ORPHA	1	507	10683	602690
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	SDHD CL E G H	6392	201				ORPHA	1	442	10683	602690
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	SEC23B CL E G H	10483	201				ORPHA	1	236	10702	610512
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	SEC23B CL E G H	10483	201				ORPHA	1	222	10702	610512
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	SEC23B CL E G H	10483	616858	616858	616858		OMIM	1	236	10702	610512
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	SEC23B CL E G H	10483	616858	616858	616858		OMIM	1	222	10702	610512
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	SLC22A18 CL E G H	5002	114480	Familial cancer of breast	114480	C0346153	OMIM	1	40	10964	602631
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	SLC22A18 CL E G H	5002	114480	Familial cancer of breast	114480	C0346153	OMIM	1	39	10964	602631
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	STK11 CL E G H	6794	175200	Peutz-Jeghers syndrome	175200	C0031269	OMIM	1	1945	11389	602216
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	STK11 CL E G H	6794	175200	Peutz-Jeghers syndrome	175200	C0031269	OMIM	1	1820	11389	602216
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	TP53 CL E G H	7157	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	1	2464	11998	191170
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	TP53 CL E G H	7157	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	1	2280	11998	191170
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	TP53 CL E G H	7157	114480	Familial cancer of breast	114480	C0346153	OMIM	1	2464	11998	191170
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	TP53 CL E G H	7157	114480	Familial cancer of breast	114480	C0346153	OMIM	1	2280	11998	191170
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	TP53 CL E G H	7157	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2464	11998	191170
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	TP53 CL E G H	7157	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	1	2280	11998	191170
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	TP53 CL E G H	7157	151623	Li-Fraumeni syndrome 1	151623	C1835398	OMIM	1	2464	11998	191170
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	TP53 CL E G H	7157	151623	Li-Fraumeni syndrome 1	151623	C1835398	OMIM	1	2280	11998	191170
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	TWIST1 CL E G H	7291	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	163	12428	601622
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	TWIST1 CL E G H	7291	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	142	12428	601622
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003002	HP:0003002	Breast carcinoma	0	APC CL E G H	324	247806				ORPHA	0	9963	583	611731
HP:0003002	HP:0003002	Breast carcinoma	0	APC CL E G H	324	79665				ORPHA	0	9963	583	611731
HP:0003002	HP:0003002	Breast carcinoma	0	APC CL E G H	324	247806				ORPHA	0	9051	583	611731
HP:0003002	HP:0003002	Breast carcinoma	0	APC CL E G H	324	79665				ORPHA	0	9051	583	611731
HP:0003002	HP:0003002	Breast carcinoma	0	ATR CL E G H	545	614564	Cutaneous telangiectasia and cancer syndrome, familial	614564	C3281203	OMIM	0	1007	882	601215
HP:0003002	HP:0003002	Breast carcinoma	0	ATR CL E G H	545	614564	Cutaneous telangiectasia and cancer syndrome, familial	614564	C3281203	OMIM	0	755	882	601215
HP:0003002	HP:0003002	Breast carcinoma	0	BRCA1 CL E G H	672	1333	Chromosome 19, ring		CN036553	ORPHA	0	12586	1100	113705
HP:0003002	HP:0003002	Breast carcinoma	0	BRCA1 CL E G H	672	1333	Chromosome 19, ring		CN036553	ORPHA	0	12207	1100	113705
HP:0003002	HP:0003002	Breast carcinoma	0	BRCA2 CL E G H	675	1333	Chromosome 19, ring		CN036553	ORPHA	0	14742	1101	600185
HP:0003002	HP:0003002	Breast carcinoma	0	BRCA2 CL E G H	675	1333	Chromosome 19, ring		CN036553	ORPHA	0	13912	1101	600185
HP:0003002	HP:0003002	Breast carcinoma	0	CDKN2A CL E G H	1029	1333	Chromosome 19, ring		CN036553	ORPHA	0	1062	1787	600160
HP:0003002	HP:0003002	Breast carcinoma	0	CDKN2A CL E G H	1029	1333	Chromosome 19, ring		CN036553	ORPHA	0	971	1787	600160
HP:0003002	HP:0003002	Breast carcinoma	0	IDH1 CL E G H	3417	163634				ORPHA	0	69	5382	147700
HP:0003002	HP:0003002	Breast carcinoma	0	IDH1 CL E G H	3417	163634				ORPHA	0	68	5382	147700
HP:0003002	HP:0003002	Breast carcinoma	0	IDH2 CL E G H	3418	163634				ORPHA	0	162	5383	147650
HP:0003002	HP:0003002	Breast carcinoma	0	IDH2 CL E G H	3418	163634				ORPHA	0	140	5383	147650
HP:0003002	HP:0003002	Breast carcinoma	0	KRAS CL E G H	3845	1333	Chromosome 19, ring		CN036553	ORPHA	0	341	6407	190070
HP:0003002	HP:0003002	Breast carcinoma	0	KRAS CL E G H	3845	1333	Chromosome 19, ring		CN036553	ORPHA	0	331	6407	190070
HP:0003002	HP:0003002	Breast carcinoma	0	MLH1 CL E G H	4292	587	Al Gazali Sabrinathan Nair syndrome			ORPHA	0	3763	7127	120436
HP:0003002	HP:0003002	Breast carcinoma	0	MLH1 CL E G H	4292	587	Al Gazali Sabrinathan Nair syndrome			ORPHA	0	3540	7127	120436
HP:0003002	HP:0003002	Breast carcinoma	0	MSH2 CL E G H	4436	587	Al Gazali Sabrinathan Nair syndrome			ORPHA	0	4964	7325	609309
HP:0003002	HP:0003002	Breast carcinoma	0	MSH2 CL E G H	4436	587	Al Gazali Sabrinathan Nair syndrome			ORPHA	0	4607	7325	609309
HP:0003002	HP:0003002	Breast carcinoma	0	MSH6 CL E G H	2956	587	Al Gazali Sabrinathan Nair syndrome			ORPHA	0	6219	7329	600678
HP:0003002	HP:0003002	Breast carcinoma	0	MSH6 CL E G H	2956	587	Al Gazali Sabrinathan Nair syndrome			ORPHA	0	5717	7329	600678
HP:0003002	HP:0003002	Breast carcinoma	0	PALB2 CL E G H	79728	1333	Chromosome 19, ring		CN036553	ORPHA	0	4245	26144	610355
HP:0003002	HP:0003002	Breast carcinoma	0	PALB2 CL E G H	79728	1333	Chromosome 19, ring		CN036553	ORPHA	0	3925	26144	610355
HP:0003002	HP:0003002	Breast carcinoma	0	PALLD CL E G H	23022	1333	Chromosome 19, ring		CN036553	ORPHA	0	614	17068	608092
HP:0003002	HP:0003002	Breast carcinoma	0	PALLD CL E G H	23022	1333	Chromosome 19, ring		CN036553	ORPHA	0	546	17068	608092
HP:0003002	HP:0003002	Breast carcinoma	0	POLD1 CL E G H	5424	447877				ORPHA	0	3124	9175	174761
HP:0003002	HP:0003002	Breast carcinoma	0	POLD1 CL E G H	5424	447877				ORPHA	0	2782	9175	174761
HP:0003002	HP:0003002	Breast carcinoma	0	POLE CL E G H	5426	447877				ORPHA	0	5759	9177	174762
HP:0003002	HP:0003002	Breast carcinoma	0	POLE CL E G H	5426	447877				ORPHA	0	5033	9177	174762
HP:0003002	HP:0003002	Breast carcinoma	0	RNF43 CL E G H	54894	157798				ORPHA	0	322	18505	612482
HP:0003002	HP:0003002	Breast carcinoma	0	RNF43 CL E G H	54894	157798				ORPHA	0	221	18505	612482
HP:0003002	HP:0003002	Breast carcinoma	0	SMAD4 CL E G H	4089	1333	Chromosome 19, ring		CN036553	ORPHA	0	1495	6770	600993
HP:0003002	HP:0003002	Breast carcinoma	0	SMAD4 CL E G H	4089	1333	Chromosome 19, ring		CN036553	ORPHA	0	1359	6770	600993
HP:0003002	HP:0003002	Breast carcinoma	0	STK11 CL E G H	6794	2869	Hypertrophic osteoarthropathy, primary or idiopathic			ORPHA	0	1945	11389	602216
HP:0003002	HP:0003002	Breast carcinoma	0	STK11 CL E G H	6794	2869	Hypertrophic osteoarthropathy, primary or idiopathic			ORPHA	0	1820	11389	602216
HP:0003002	HP:0003002	Breast carcinoma	0	TP53 CL E G H	7157	1333	Chromosome 19, ring		CN036553	ORPHA	0	2464	11998	191170
HP:0003002	HP:0003002	Breast carcinoma	0	TP53 CL E G H	7157	1333	Chromosome 19, ring		CN036553	ORPHA	0	2280	11998	191170
HP:0003002	HP:0003002	Breast carcinoma	0	WRN CL E G H	7486	902	Blepharo naso facial syndrome Van maldergem type			ORPHA	0	2391	12791	604611
HP:0003002	HP:0003002	Breast carcinoma	0	WRN CL E G H	7486	902	Blepharo naso facial syndrome Van maldergem type			ORPHA	0	1947	12791	604611
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	APC CL E G H	324	247806				ORPHA	0	9963	583	611731
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	APC CL E G H	324	79665				ORPHA	0	9963	583	611731
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	APC CL E G H	324	247806				ORPHA	0	9051	583	611731
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	APC CL E G H	324	79665				ORPHA	0	9051	583	611731
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	ATR CL E G H	545	614564	Cutaneous telangiectasia and cancer syndrome, familial	614564	C3281203	OMIM	0	1007	882	601215
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	ATR CL E G H	545	614564	Cutaneous telangiectasia and cancer syndrome, familial	614564	C3281203	OMIM	0	755	882	601215
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	BRCA1 CL E G H	672	1333	Chromosome 19, ring		CN036553	ORPHA	0	12586	1100	113705
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	BRCA1 CL E G H	672	1333	Chromosome 19, ring		CN036553	ORPHA	0	12207	1100	113705
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	BRCA2 CL E G H	675	1333	Chromosome 19, ring		CN036553	ORPHA	0	14742	1101	600185
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	BRCA2 CL E G H	675	1333	Chromosome 19, ring		CN036553	ORPHA	0	13912	1101	600185
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	CDKN2A CL E G H	1029	1333	Chromosome 19, ring		CN036553	ORPHA	0	1062	1787	600160
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	CDKN2A CL E G H	1029	1333	Chromosome 19, ring		CN036553	ORPHA	0	971	1787	600160
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	IDH1 CL E G H	3417	163634				ORPHA	0	69	5382	147700
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	IDH1 CL E G H	3417	163634				ORPHA	0	68	5382	147700
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	IDH2 CL E G H	3418	163634				ORPHA	0	162	5383	147650
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	IDH2 CL E G H	3418	163634				ORPHA	0	140	5383	147650
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	KRAS CL E G H	3845	1333	Chromosome 19, ring		CN036553	ORPHA	0	341	6407	190070
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	KRAS CL E G H	3845	1333	Chromosome 19, ring		CN036553	ORPHA	0	331	6407	190070
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	MLH1 CL E G H	4292	587	Al Gazali Sabrinathan Nair syndrome			ORPHA	0	3763	7127	120436
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	MLH1 CL E G H	4292	587	Al Gazali Sabrinathan Nair syndrome			ORPHA	0	3540	7127	120436
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	MSH2 CL E G H	4436	587	Al Gazali Sabrinathan Nair syndrome			ORPHA	0	4964	7325	609309
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	MSH2 CL E G H	4436	587	Al Gazali Sabrinathan Nair syndrome			ORPHA	0	4607	7325	609309
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	MSH6 CL E G H	2956	587	Al Gazali Sabrinathan Nair syndrome			ORPHA	0	6219	7329	600678
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	MSH6 CL E G H	2956	587	Al Gazali Sabrinathan Nair syndrome			ORPHA	0	5717	7329	600678
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PALB2 CL E G H	79728	1333	Chromosome 19, ring		CN036553	ORPHA	0	4245	26144	610355
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PALB2 CL E G H	79728	1333	Chromosome 19, ring		CN036553	ORPHA	0	3925	26144	610355
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PALLD CL E G H	23022	1333	Chromosome 19, ring		CN036553	ORPHA	0	614	17068	608092
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	PALLD CL E G H	23022	1333	Chromosome 19, ring		CN036553	ORPHA	0	546	17068	608092
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	POLD1 CL E G H	5424	447877				ORPHA	0	3124	9175	174761
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	POLD1 CL E G H	5424	447877				ORPHA	0	2782	9175	174761
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	POLE CL E G H	5426	447877				ORPHA	0	5759	9177	174762
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	POLE CL E G H	5426	447877				ORPHA	0	5033	9177	174762
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	RNF43 CL E G H	54894	157798				ORPHA	0	322	18505	612482
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	RNF43 CL E G H	54894	157798				ORPHA	0	221	18505	612482
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	SMAD4 CL E G H	4089	1333	Chromosome 19, ring		CN036553	ORPHA	0	1495	6770	600993
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	SMAD4 CL E G H	4089	1333	Chromosome 19, ring		CN036553	ORPHA	0	1359	6770	600993
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	STK11 CL E G H	6794	2869	Hypertrophic osteoarthropathy, primary or idiopathic			ORPHA	0	1945	11389	602216
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	STK11 CL E G H	6794	2869	Hypertrophic osteoarthropathy, primary or idiopathic			ORPHA	0	1820	11389	602216
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	TP53 CL E G H	7157	1333	Chromosome 19, ring		CN036553	ORPHA	0	2464	11998	191170
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	TP53 CL E G H	7157	1333	Chromosome 19, ring		CN036553	ORPHA	0	2280	11998	191170
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	WRN CL E G H	7486	902	Blepharo naso facial syndrome Van maldergem type			ORPHA	0	2391	12791	604611
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	WRN CL E G H	7486	902	Blepharo naso facial syndrome Van maldergem type			ORPHA	0	1947	12791	604611

Genes (51) :AAGAB AKT1 APC ATR BARD1 BRCA1 BRCA2 BRIP1 CDH1 CDKN2A CHEK2 COL14A1 CTNNB1 ESR1 FGFR2 IDH1 IDH2 KLLN KRAS MDM2 MLH1 MRE11 MSH2 MSH6 NBN NTHL1 OPCML PALB2 PALLD PIK3CA POLD1 POLE PPM1D PRKN PTEN RAD50 RAD51 RAD51C RAD51D RB1CC1 RNF43 SDHB SDHC SDHD SEC23B SLC22A18 SMAD4 STK11 TP53 TWIST1 WRN

Diseases (28) :79501 201 615109 114480 167000 247806 79665 614564 145 1333 617883 524 609265 101400 163634 587 158320 454840 616415 615108 447877 158350 157798 616858 2869 175200 151623 902

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

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