Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal breast morphology (HP:0031093)help
Grandparent Node:
expand
Neoplasm by anatomical site (HP:0011793)help
Parent Node:
expand
Neoplasm of the breast (HP:0100013)help
..Starting node
..expand
Breast carcinoma (HP:0003002)help
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:
........expandMultifocal breast carcinoma (HP:0006625) help

 Sister Nodes: 
..expandDuctal carcinoma in situ (HP:0030075) help
..expandFibroadenoma of the breast (HP:0010619) help
..expandLobular carcinoma in situ (HP:0030076) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003002HP:0003002Breast carcinoma0AAGAB CL E G H7971979501ORPHA18725662614888
HP:0003002HP:0003002Breast carcinoma0AAGAB CL E G H7971979501ORPHA18225662614888
HP:0003002HP:0003002Breast carcinoma0AKT1 CL E G H207201ORPHA1417391164730
HP:0003002HP:0003002Breast carcinoma0AKT1 CL E G H207201ORPHA1380391164730
HP:0003002HP:0003002Breast carcinoma0AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1417391164730
HP:0003002HP:0003002Breast carcinoma0AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1380391164730
HP:0003002HP:0003002Breast carcinoma0AKT1 CL E G H207114480Familial cancer of breast114480C0346153OMIM1417391164730
HP:0003002HP:0003002Breast carcinoma0AKT1 CL E G H207114480Familial cancer of breast114480C0346153OMIM1380391164730
HP:0003002HP:0003002Breast carcinoma0AKT1 CL E G H207167000Neoplasm of ovary167000C0919267OMIM1417391164730
HP:0003002HP:0003002Breast carcinoma0AKT1 CL E G H207167000Neoplasm of ovary167000C0919267OMIM1380391164730
HP:0003002HP:0003002Breast carcinoma0BARD1 CL E G H580145Hereditary breast and ovarian cancer syndromeC0677776ORPHA12773952601593
HP:0003002HP:0003002Breast carcinoma0BARD1 CL E G H580145Hereditary breast and ovarian cancer syndromeC0677776ORPHA12555952601593
HP:0003002HP:0003002Breast carcinoma0BRCA1 CL E G H672114480Familial cancer of breast114480C0346153OMIM1125861100113705
HP:0003002HP:0003002Breast carcinoma0BRCA1 CL E G H672114480Familial cancer of breast114480C0346153OMIM1122071100113705
HP:0003002HP:0003002Breast carcinoma0BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM1125861100113705
HP:0003002HP:0003002Breast carcinoma0BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM1122071100113705
HP:0003002HP:0003002Breast carcinoma0BRCA1 CL E G H672145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1125861100113705
HP:0003002HP:0003002Breast carcinoma0BRCA1 CL E G H672145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1122071100113705
HP:0003002HP:0003002Breast carcinoma0BRCA2 CL E G H675145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1147421101600185
HP:0003002HP:0003002Breast carcinoma0BRCA2 CL E G H675145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1139121101600185
HP:0003002HP:0003002Breast carcinoma0BRIP1 CL E G H83990145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1377820473605882
HP:0003002HP:0003002Breast carcinoma0BRIP1 CL E G H83990145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1346420473605882
HP:0003002HP:0003002Breast carcinoma0CDH1 CL E G H999167000Neoplasm of ovary167000C0919267OMIM130461748192090
HP:0003002HP:0003002Breast carcinoma0CDH1 CL E G H999167000Neoplasm of ovary167000C0919267OMIM128181748192090
HP:0003002HP:0003002Breast carcinoma0CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA110621787600160
HP:0003002HP:0003002Breast carcinoma0CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA19711787600160
HP:0003002HP:0003002Breast carcinoma0CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA1285116627604373
HP:0003002HP:0003002Breast carcinoma0CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA1259416627604373
HP:0003002HP:0003002Breast carcinoma0CHEK2 CL E G H11200145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1285116627604373
HP:0003002HP:0003002Breast carcinoma0CHEK2 CL E G H11200145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1259416627604373
HP:0003002HP:0003002Breast carcinoma0CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0003002HP:0003002Breast carcinoma0CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0003002HP:0003002Breast carcinoma0COL14A1 CL E G H737379501ORPHA11552191120324
HP:0003002HP:0003002Breast carcinoma0CTNNB1 CL E G H1499167000Neoplasm of ovary167000C0919267OMIM13642514116806
HP:0003002HP:0003002Breast carcinoma0CTNNB1 CL E G H1499167000Neoplasm of ovary167000C0919267OMIM12692514116806
HP:0003002HP:0003002Breast carcinoma0ESR1 CL E G H2099114480Familial cancer of breast114480C0346153OMIM11853467133430
HP:0003002HP:0003002Breast carcinoma0ESR1 CL E G H2099114480Familial cancer of breast114480C0346153OMIM11813467133430
HP:0003002HP:0003002Breast carcinoma0FGFR2 CL E G H2263101400Saethre-Chotzen syndrome101400C0175699OMIM15013689176943
HP:0003002HP:0003002Breast carcinoma0FGFR2 CL E G H2263101400Saethre-Chotzen syndrome101400C0175699OMIM14663689176943
HP:0003002HP:0003002Breast carcinoma0KLLN CL E G H100144748201ORPHA127037212612105
HP:0003002HP:0003002Breast carcinoma0KLLN CL E G H100144748201ORPHA124837212612105
HP:0003002HP:0003002Breast carcinoma0KRAS CL E G H3845114480Familial cancer of breast114480C0346153OMIM13416407190070
HP:0003002HP:0003002Breast carcinoma0KRAS CL E G H3845114480Familial cancer of breast114480C0346153OMIM13316407190070
HP:0003002HP:0003002Breast carcinoma0MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA1756973164785
HP:0003002HP:0003002Breast carcinoma0MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA1496973164785
HP:0003002HP:0003002Breast carcinoma0MLH1 CL E G H4292158320Muir-Torré syndrome158320C1321489OMIM137637127120436
HP:0003002HP:0003002Breast carcinoma0MLH1 CL E G H4292158320Muir-Torré syndrome158320C1321489OMIM135407127120436
HP:0003002HP:0003002Breast carcinoma0MRE11 CL E G H4361145Hereditary breast and ovarian cancer syndromeC0677776ORPHA112597230600814
HP:0003002HP:0003002Breast carcinoma0MRE11 CL E G H4361145Hereditary breast and ovarian cancer syndromeC0677776ORPHA112587230600814
HP:0003002HP:0003002Breast carcinoma0MSH2 CL E G H4436158320Muir-Torré syndrome158320C1321489OMIM149647325609309
HP:0003002HP:0003002Breast carcinoma0MSH2 CL E G H4436158320Muir-Torré syndrome158320C1321489OMIM146077325609309
HP:0003002HP:0003002Breast carcinoma0NBN CL E G H4683145Hereditary breast and ovarian cancer syndromeC0677776ORPHA126407652602667
HP:0003002HP:0003002Breast carcinoma0NBN CL E G H4683145Hereditary breast and ovarian cancer syndromeC0677776ORPHA124027652602667
HP:0003002HP:0003002Breast carcinoma0NTHL1 CL E G H4913454840ORPHA19028028602656
HP:0003002HP:0003002Breast carcinoma0NTHL1 CL E G H4913454840ORPHA17558028602656
HP:0003002HP:0003002Breast carcinoma0NTHL1 CL E G H4913616415Familial adenomatous polyposis 3616415C4225157OMIM19028028602656
HP:0003002HP:0003002Breast carcinoma0NTHL1 CL E G H4913616415Familial adenomatous polyposis 3616415C4225157OMIM17558028602656
HP:0003002HP:0003002Breast carcinoma0OPCML CL E G H4978167000Neoplasm of ovary167000C0919267OMIM11128143600632
HP:0003002HP:0003002Breast carcinoma0PALB2 CL E G H79728145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1424526144610355
HP:0003002HP:0003002Breast carcinoma0PALB2 CL E G H79728145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1392526144610355
HP:0003002HP:0003002Breast carcinoma0PIK3CA CL E G H5290201ORPHA16138975171834
HP:0003002HP:0003002Breast carcinoma0PIK3CA CL E G H5290201ORPHA15448975171834
HP:0003002HP:0003002Breast carcinoma0PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM16138975171834
HP:0003002HP:0003002Breast carcinoma0PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM15448975171834
HP:0003002HP:0003002Breast carcinoma0PIK3CA CL E G H5290114480Familial cancer of breast114480C0346153OMIM16138975171834
HP:0003002HP:0003002Breast carcinoma0PIK3CA CL E G H5290114480Familial cancer of breast114480C0346153OMIM15448975171834
HP:0003002HP:0003002Breast carcinoma0PIK3CA CL E G H5290167000Neoplasm of ovary167000C0919267OMIM16138975171834
HP:0003002HP:0003002Breast carcinoma0PIK3CA CL E G H5290167000Neoplasm of ovary167000C0919267OMIM15448975171834
HP:0003002HP:0003002Breast carcinoma0PPM1D CL E G H8493114480Familial cancer of breast114480C0346153OMIM11229277605100
HP:0003002HP:0003002Breast carcinoma0PPM1D CL E G H8493114480Familial cancer of breast114480C0346153OMIM11169277605100
HP:0003002HP:0003002Breast carcinoma0PRKN CL E G H5071167000Neoplasm of ovary167000C0919267OMIM16208607602544
HP:0003002HP:0003002Breast carcinoma0PRKN CL E G H5071167000Neoplasm of ovary167000C0919267OMIM15768607602544
HP:0003002HP:0003002Breast carcinoma0PTEN CL E G H5728201ORPHA124169588601728
HP:0003002HP:0003002Breast carcinoma0PTEN CL E G H5728201ORPHA122469588601728
HP:0003002HP:0003002Breast carcinoma0PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM124169588601728
HP:0003002HP:0003002Breast carcinoma0PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM122469588601728
HP:0003002HP:0003002Breast carcinoma0PTEN CL E G H5728145Hereditary breast and ovarian cancer syndromeC0677776ORPHA124169588601728
HP:0003002HP:0003002Breast carcinoma0PTEN CL E G H5728145Hereditary breast and ovarian cancer syndromeC0677776ORPHA122469588601728
HP:0003002HP:0003002Breast carcinoma0RAD50 CL E G H10111145Hereditary breast and ovarian cancer syndromeC0677776ORPHA129289816604040
HP:0003002HP:0003002Breast carcinoma0RAD50 CL E G H10111145Hereditary breast and ovarian cancer syndromeC0677776ORPHA126119816604040
HP:0003002HP:0003002Breast carcinoma0RAD51 CL E G H5888145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1819817179617
HP:0003002HP:0003002Breast carcinoma0RAD51 CL E G H5888145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1729817179617
HP:0003002HP:0003002Breast carcinoma0RAD51C CL E G H5889145Hereditary breast and ovarian cancer syndromeC0677776ORPHA114229820602774
HP:0003002HP:0003002Breast carcinoma0RAD51C CL E G H5889145Hereditary breast and ovarian cancer syndromeC0677776ORPHA113109820602774
HP:0003002HP:0003002Breast carcinoma0RAD51D CL E G H5892145Hereditary breast and ovarian cancer syndromeC0677776ORPHA112169823602954
HP:0003002HP:0003002Breast carcinoma0RAD51D CL E G H5892145Hereditary breast and ovarian cancer syndromeC0677776ORPHA111329823602954
HP:0003002HP:0003002Breast carcinoma0RB1CC1 CL E G H9821114480Familial cancer of breast114480C0346153OMIM18315574606837
HP:0003002HP:0003002Breast carcinoma0SDHB CL E G H6390201ORPHA192610681185470
HP:0003002HP:0003002Breast carcinoma0SDHB CL E G H6390201ORPHA182410681185470
HP:0003002HP:0003002Breast carcinoma0SDHC CL E G H6391201ORPHA157510682602413
HP:0003002HP:0003002Breast carcinoma0SDHC CL E G H6391201ORPHA152610682602413
HP:0003002HP:0003002Breast carcinoma0SDHD CL E G H6392201ORPHA150710683602690
HP:0003002HP:0003002Breast carcinoma0SDHD CL E G H6392201ORPHA144210683602690
HP:0003002HP:0003002Breast carcinoma0SEC23B CL E G H10483201ORPHA123610702610512
HP:0003002HP:0003002Breast carcinoma0SEC23B CL E G H10483201ORPHA122210702610512
HP:0003002HP:0003002Breast carcinoma0SEC23B CL E G H10483616858616858616858OMIM123610702610512
HP:0003002HP:0003002Breast carcinoma0SEC23B CL E G H10483616858616858616858OMIM122210702610512
HP:0003002HP:0003002Breast carcinoma0SLC22A18 CL E G H5002114480Familial cancer of breast114480C0346153OMIM14010964602631
HP:0003002HP:0003002Breast carcinoma0SLC22A18 CL E G H5002114480Familial cancer of breast114480C0346153OMIM13910964602631
HP:0003002HP:0003002Breast carcinoma0STK11 CL E G H6794175200Peutz-Jeghers syndrome175200C0031269OMIM1194511389602216
HP:0003002HP:0003002Breast carcinoma0STK11 CL E G H6794175200Peutz-Jeghers syndrome175200C0031269OMIM1182011389602216
HP:0003002HP:0003002Breast carcinoma0TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA1246411998191170
HP:0003002HP:0003002Breast carcinoma0TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA1228011998191170
HP:0003002HP:0003002Breast carcinoma0TP53 CL E G H7157114480Familial cancer of breast114480C0346153OMIM1246411998191170
HP:0003002HP:0003002Breast carcinoma0TP53 CL E G H7157114480Familial cancer of breast114480C0346153OMIM1228011998191170
HP:0003002HP:0003002Breast carcinoma0TP53 CL E G H7157145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1246411998191170
HP:0003002HP:0003002Breast carcinoma0TP53 CL E G H7157145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1228011998191170
HP:0003002HP:0003002Breast carcinoma0TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0003002HP:0003002Breast carcinoma0TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0003002HP:0003002Breast carcinoma0TWIST1 CL E G H7291101400Saethre-Chotzen syndrome101400C0175699OMIM116312428601622
HP:0003002HP:0003002Breast carcinoma0TWIST1 CL E G H7291101400Saethre-Chotzen syndrome101400C0175699OMIM114212428601622
HP:0003002HP:0006625Multifocal breast carcinoma1AAGAB CL E G H7971979501ORPHA18725662614888
HP:0003002HP:0006625Multifocal breast carcinoma1AAGAB CL E G H7971979501ORPHA18225662614888
HP:0003002HP:0006625Multifocal breast carcinoma1AKT1 CL E G H207201ORPHA1417391164730
HP:0003002HP:0006625Multifocal breast carcinoma1AKT1 CL E G H207201ORPHA1380391164730
HP:0003002HP:0006625Multifocal breast carcinoma1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1417391164730
HP:0003002HP:0006625Multifocal breast carcinoma1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1380391164730
HP:0003002HP:0006625Multifocal breast carcinoma1AKT1 CL E G H207114480Familial cancer of breast114480C0346153OMIM1417391164730
HP:0003002HP:0006625Multifocal breast carcinoma1AKT1 CL E G H207114480Familial cancer of breast114480C0346153OMIM1380391164730
HP:0003002HP:0006625Multifocal breast carcinoma1AKT1 CL E G H207167000Neoplasm of ovary167000C0919267OMIM1417391164730
HP:0003002HP:0006625Multifocal breast carcinoma1AKT1 CL E G H207167000Neoplasm of ovary167000C0919267OMIM1380391164730
HP:0003002HP:0006625Multifocal breast carcinoma1BARD1 CL E G H580145Hereditary breast and ovarian cancer syndromeC0677776ORPHA12773952601593
HP:0003002HP:0006625Multifocal breast carcinoma1BARD1 CL E G H580145Hereditary breast and ovarian cancer syndromeC0677776ORPHA12555952601593
HP:0003002HP:0006625Multifocal breast carcinoma1BRCA1 CL E G H672114480Familial cancer of breast114480C0346153OMIM1125861100113705
HP:0003002HP:0006625Multifocal breast carcinoma1BRCA1 CL E G H672114480Familial cancer of breast114480C0346153OMIM1122071100113705
HP:0003002HP:0006625Multifocal breast carcinoma1BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM1125861100113705
HP:0003002HP:0006625Multifocal breast carcinoma1BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM1122071100113705
HP:0003002HP:0006625Multifocal breast carcinoma1BRCA1 CL E G H672145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1125861100113705
HP:0003002HP:0006625Multifocal breast carcinoma1BRCA1 CL E G H672145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1122071100113705
HP:0003002HP:0006625Multifocal breast carcinoma1BRCA2 CL E G H675145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1147421101600185
HP:0003002HP:0006625Multifocal breast carcinoma1BRCA2 CL E G H675145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1139121101600185
HP:0003002HP:0006625Multifocal breast carcinoma1BRIP1 CL E G H83990145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1377820473605882
HP:0003002HP:0006625Multifocal breast carcinoma1BRIP1 CL E G H83990145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1346420473605882
HP:0003002HP:0006625Multifocal breast carcinoma1CDH1 CL E G H999167000Neoplasm of ovary167000C0919267OMIM130461748192090
HP:0003002HP:0006625Multifocal breast carcinoma1CDH1 CL E G H999167000Neoplasm of ovary167000C0919267OMIM128181748192090
HP:0003002HP:0006625Multifocal breast carcinoma1CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA110621787600160
HP:0003002HP:0006625Multifocal breast carcinoma1CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA19711787600160
HP:0003002HP:0006625Multifocal breast carcinoma1CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA1285116627604373
HP:0003002HP:0006625Multifocal breast carcinoma1CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA1259416627604373
HP:0003002HP:0006625Multifocal breast carcinoma1CHEK2 CL E G H11200145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1285116627604373
HP:0003002HP:0006625Multifocal breast carcinoma1CHEK2 CL E G H11200145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1259416627604373
HP:0003002HP:0006625Multifocal breast carcinoma1CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0003002HP:0006625Multifocal breast carcinoma1CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0003002HP:0006625Multifocal breast carcinoma1COL14A1 CL E G H737379501ORPHA11552191120324
HP:0003002HP:0006625Multifocal breast carcinoma1CTNNB1 CL E G H1499167000Neoplasm of ovary167000C0919267OMIM13642514116806
HP:0003002HP:0006625Multifocal breast carcinoma1CTNNB1 CL E G H1499167000Neoplasm of ovary167000C0919267OMIM12692514116806
HP:0003002HP:0006625Multifocal breast carcinoma1ESR1 CL E G H2099114480Familial cancer of breast114480C0346153OMIM11853467133430
HP:0003002HP:0006625Multifocal breast carcinoma1ESR1 CL E G H2099114480Familial cancer of breast114480C0346153OMIM11813467133430
HP:0003002HP:0006625Multifocal breast carcinoma1FGFR2 CL E G H2263101400Saethre-Chotzen syndrome101400C0175699OMIM15013689176943
HP:0003002HP:0006625Multifocal breast carcinoma1FGFR2 CL E G H2263101400Saethre-Chotzen syndrome101400C0175699OMIM14663689176943
HP:0003002HP:0006625Multifocal breast carcinoma1KLLN CL E G H100144748201ORPHA127037212612105
HP:0003002HP:0006625Multifocal breast carcinoma1KLLN CL E G H100144748201ORPHA124837212612105
HP:0003002HP:0006625Multifocal breast carcinoma1KRAS CL E G H3845114480Familial cancer of breast114480C0346153OMIM13416407190070
HP:0003002HP:0006625Multifocal breast carcinoma1KRAS CL E G H3845114480Familial cancer of breast114480C0346153OMIM13316407190070
HP:0003002HP:0006625Multifocal breast carcinoma1MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA1756973164785
HP:0003002HP:0006625Multifocal breast carcinoma1MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA1496973164785
HP:0003002HP:0006625Multifocal breast carcinoma1MLH1 CL E G H4292158320Muir-Torré syndrome158320C1321489OMIM137637127120436
HP:0003002HP:0006625Multifocal breast carcinoma1MLH1 CL E G H4292158320Muir-Torré syndrome158320C1321489OMIM135407127120436
HP:0003002HP:0006625Multifocal breast carcinoma1MRE11 CL E G H4361145Hereditary breast and ovarian cancer syndromeC0677776ORPHA112597230600814
HP:0003002HP:0006625Multifocal breast carcinoma1MRE11 CL E G H4361145Hereditary breast and ovarian cancer syndromeC0677776ORPHA112587230600814
HP:0003002HP:0006625Multifocal breast carcinoma1MSH2 CL E G H4436158320Muir-Torré syndrome158320C1321489OMIM149647325609309
HP:0003002HP:0006625Multifocal breast carcinoma1MSH2 CL E G H4436158320Muir-Torré syndrome158320C1321489OMIM146077325609309
HP:0003002HP:0006625Multifocal breast carcinoma1NBN CL E G H4683145Hereditary breast and ovarian cancer syndromeC0677776ORPHA126407652602667
HP:0003002HP:0006625Multifocal breast carcinoma1NBN CL E G H4683145Hereditary breast and ovarian cancer syndromeC0677776ORPHA124027652602667
HP:0003002HP:0006625Multifocal breast carcinoma1NTHL1 CL E G H4913454840ORPHA19028028602656
HP:0003002HP:0006625Multifocal breast carcinoma1NTHL1 CL E G H4913454840ORPHA17558028602656
HP:0003002HP:0006625Multifocal breast carcinoma1NTHL1 CL E G H4913616415Familial adenomatous polyposis 3616415C4225157OMIM19028028602656
HP:0003002HP:0006625Multifocal breast carcinoma1NTHL1 CL E G H4913616415Familial adenomatous polyposis 3616415C4225157OMIM17558028602656
HP:0003002HP:0006625Multifocal breast carcinoma1OPCML CL E G H4978167000Neoplasm of ovary167000C0919267OMIM11128143600632
HP:0003002HP:0006625Multifocal breast carcinoma1PALB2 CL E G H79728145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1424526144610355
HP:0003002HP:0006625Multifocal breast carcinoma1PALB2 CL E G H79728145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1392526144610355
HP:0003002HP:0006625Multifocal breast carcinoma1PIK3CA CL E G H5290201ORPHA16138975171834
HP:0003002HP:0006625Multifocal breast carcinoma1PIK3CA CL E G H5290201ORPHA15448975171834
HP:0003002HP:0006625Multifocal breast carcinoma1PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM16138975171834
HP:0003002HP:0006625Multifocal breast carcinoma1PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM15448975171834
HP:0003002HP:0006625Multifocal breast carcinoma1PIK3CA CL E G H5290114480Familial cancer of breast114480C0346153OMIM16138975171834
HP:0003002HP:0006625Multifocal breast carcinoma1PIK3CA CL E G H5290114480Familial cancer of breast114480C0346153OMIM15448975171834
HP:0003002HP:0006625Multifocal breast carcinoma1PIK3CA CL E G H5290167000Neoplasm of ovary167000C0919267OMIM16138975171834
HP:0003002HP:0006625Multifocal breast carcinoma1PIK3CA CL E G H5290167000Neoplasm of ovary167000C0919267OMIM15448975171834
HP:0003002HP:0006625Multifocal breast carcinoma1PPM1D CL E G H8493114480Familial cancer of breast114480C0346153OMIM11229277605100
HP:0003002HP:0006625Multifocal breast carcinoma1PPM1D CL E G H8493114480Familial cancer of breast114480C0346153OMIM11169277605100
HP:0003002HP:0006625Multifocal breast carcinoma1PRKN CL E G H5071167000Neoplasm of ovary167000C0919267OMIM16208607602544
HP:0003002HP:0006625Multifocal breast carcinoma1PRKN CL E G H5071167000Neoplasm of ovary167000C0919267OMIM15768607602544
HP:0003002HP:0006625Multifocal breast carcinoma1PTEN CL E G H5728201ORPHA124169588601728
HP:0003002HP:0006625Multifocal breast carcinoma1PTEN CL E G H5728201ORPHA122469588601728
HP:0003002HP:0006625Multifocal breast carcinoma1PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM124169588601728
HP:0003002HP:0006625Multifocal breast carcinoma1PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM122469588601728
HP:0003002HP:0006625Multifocal breast carcinoma1PTEN CL E G H5728145Hereditary breast and ovarian cancer syndromeC0677776ORPHA124169588601728
HP:0003002HP:0006625Multifocal breast carcinoma1PTEN CL E G H5728145Hereditary breast and ovarian cancer syndromeC0677776ORPHA122469588601728
HP:0003002HP:0006625Multifocal breast carcinoma1RAD50 CL E G H10111145Hereditary breast and ovarian cancer syndromeC0677776ORPHA129289816604040
HP:0003002HP:0006625Multifocal breast carcinoma1RAD50 CL E G H10111145Hereditary breast and ovarian cancer syndromeC0677776ORPHA126119816604040
HP:0003002HP:0006625Multifocal breast carcinoma1RAD51 CL E G H5888145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1819817179617
HP:0003002HP:0006625Multifocal breast carcinoma1RAD51 CL E G H5888145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1729817179617
HP:0003002HP:0006625Multifocal breast carcinoma1RAD51C CL E G H5889145Hereditary breast and ovarian cancer syndromeC0677776ORPHA114229820602774
HP:0003002HP:0006625Multifocal breast carcinoma1RAD51C CL E G H5889145Hereditary breast and ovarian cancer syndromeC0677776ORPHA113109820602774
HP:0003002HP:0006625Multifocal breast carcinoma1RAD51D CL E G H5892145Hereditary breast and ovarian cancer syndromeC0677776ORPHA112169823602954
HP:0003002HP:0006625Multifocal breast carcinoma1RAD51D CL E G H5892145Hereditary breast and ovarian cancer syndromeC0677776ORPHA111329823602954
HP:0003002HP:0006625Multifocal breast carcinoma1RB1CC1 CL E G H9821114480Familial cancer of breast114480C0346153OMIM18315574606837
HP:0003002HP:0006625Multifocal breast carcinoma1SDHB CL E G H6390201ORPHA192610681185470
HP:0003002HP:0006625Multifocal breast carcinoma1SDHB CL E G H6390201ORPHA182410681185470
HP:0003002HP:0006625Multifocal breast carcinoma1SDHC CL E G H6391201ORPHA157510682602413
HP:0003002HP:0006625Multifocal breast carcinoma1SDHC CL E G H6391201ORPHA152610682602413
HP:0003002HP:0006625Multifocal breast carcinoma1SDHD CL E G H6392201ORPHA150710683602690
HP:0003002HP:0006625Multifocal breast carcinoma1SDHD CL E G H6392201ORPHA144210683602690
HP:0003002HP:0006625Multifocal breast carcinoma1SEC23B CL E G H10483201ORPHA123610702610512
HP:0003002HP:0006625Multifocal breast carcinoma1SEC23B CL E G H10483201ORPHA122210702610512
HP:0003002HP:0006625Multifocal breast carcinoma1SEC23B CL E G H10483616858616858616858OMIM123610702610512
HP:0003002HP:0006625Multifocal breast carcinoma1SEC23B CL E G H10483616858616858616858OMIM122210702610512
HP:0003002HP:0006625Multifocal breast carcinoma1SLC22A18 CL E G H5002114480Familial cancer of breast114480C0346153OMIM14010964602631
HP:0003002HP:0006625Multifocal breast carcinoma1SLC22A18 CL E G H5002114480Familial cancer of breast114480C0346153OMIM13910964602631
HP:0003002HP:0006625Multifocal breast carcinoma1STK11 CL E G H6794175200Peutz-Jeghers syndrome175200C0031269OMIM1194511389602216
HP:0003002HP:0006625Multifocal breast carcinoma1STK11 CL E G H6794175200Peutz-Jeghers syndrome175200C0031269OMIM1182011389602216
HP:0003002HP:0006625Multifocal breast carcinoma1TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA1246411998191170
HP:0003002HP:0006625Multifocal breast carcinoma1TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA1228011998191170
HP:0003002HP:0006625Multifocal breast carcinoma1TP53 CL E G H7157114480Familial cancer of breast114480C0346153OMIM1246411998191170
HP:0003002HP:0006625Multifocal breast carcinoma1TP53 CL E G H7157114480Familial cancer of breast114480C0346153OMIM1228011998191170
HP:0003002HP:0006625Multifocal breast carcinoma1TP53 CL E G H7157145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1246411998191170
HP:0003002HP:0006625Multifocal breast carcinoma1TP53 CL E G H7157145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1228011998191170
HP:0003002HP:0006625Multifocal breast carcinoma1TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0003002HP:0006625Multifocal breast carcinoma1TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0003002HP:0006625Multifocal breast carcinoma1TWIST1 CL E G H7291101400Saethre-Chotzen syndrome101400C0175699OMIM116312428601622
HP:0003002HP:0006625Multifocal breast carcinoma1TWIST1 CL E G H7291101400Saethre-Chotzen syndrome101400C0175699OMIM114212428601622
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003002HP:0003002Breast carcinoma0APC CL E G H324247806ORPHA09963583611731
HP:0003002HP:0003002Breast carcinoma0APC CL E G H32479665ORPHA09963583611731
HP:0003002HP:0003002Breast carcinoma0APC CL E G H324247806ORPHA09051583611731
HP:0003002HP:0003002Breast carcinoma0APC CL E G H32479665ORPHA09051583611731
HP:0003002HP:0003002Breast carcinoma0ATR CL E G H545614564Cutaneous telangiectasia and cancer syndrome, familial614564C3281203OMIM01007882601215
HP:0003002HP:0003002Breast carcinoma0ATR CL E G H545614564Cutaneous telangiectasia and cancer syndrome, familial614564C3281203OMIM0755882601215
HP:0003002HP:0003002Breast carcinoma0BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA0125861100113705
HP:0003002HP:0003002Breast carcinoma0BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA0122071100113705
HP:0003002HP:0003002Breast carcinoma0BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA0147421101600185
HP:0003002HP:0003002Breast carcinoma0BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA0139121101600185
HP:0003002HP:0003002Breast carcinoma0CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA010621787600160
HP:0003002HP:0003002Breast carcinoma0CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA09711787600160
HP:0003002HP:0003002Breast carcinoma0IDH1 CL E G H3417163634ORPHA0695382147700
HP:0003002HP:0003002Breast carcinoma0IDH1 CL E G H3417163634ORPHA0685382147700
HP:0003002HP:0003002Breast carcinoma0IDH2 CL E G H3418163634ORPHA01625383147650
HP:0003002HP:0003002Breast carcinoma0IDH2 CL E G H3418163634ORPHA01405383147650
HP:0003002HP:0003002Breast carcinoma0KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA03416407190070
HP:0003002HP:0003002Breast carcinoma0KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA03316407190070
HP:0003002HP:0003002Breast carcinoma0MLH1 CL E G H4292587Al Gazali Sabrinathan Nair syndromeORPHA037637127120436
HP:0003002HP:0003002Breast carcinoma0MLH1 CL E G H4292587Al Gazali Sabrinathan Nair syndromeORPHA035407127120436
HP:0003002HP:0003002Breast carcinoma0MSH2 CL E G H4436587Al Gazali Sabrinathan Nair syndromeORPHA049647325609309
HP:0003002HP:0003002Breast carcinoma0MSH2 CL E G H4436587Al Gazali Sabrinathan Nair syndromeORPHA046077325609309
HP:0003002HP:0003002Breast carcinoma0MSH6 CL E G H2956587Al Gazali Sabrinathan Nair syndromeORPHA062197329600678
HP:0003002HP:0003002Breast carcinoma0MSH6 CL E G H2956587Al Gazali Sabrinathan Nair syndromeORPHA057177329600678
HP:0003002HP:0003002Breast carcinoma0PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA0424526144610355
HP:0003002HP:0003002Breast carcinoma0PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA0392526144610355
HP:0003002HP:0003002Breast carcinoma0PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA061417068608092
HP:0003002HP:0003002Breast carcinoma0PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA054617068608092
HP:0003002HP:0003002Breast carcinoma0POLD1 CL E G H5424447877ORPHA031249175174761
HP:0003002HP:0003002Breast carcinoma0POLD1 CL E G H5424447877ORPHA027829175174761
HP:0003002HP:0003002Breast carcinoma0POLE CL E G H5426447877ORPHA057599177174762
HP:0003002HP:0003002Breast carcinoma0POLE CL E G H5426447877ORPHA050339177174762
HP:0003002HP:0003002Breast carcinoma0RNF43 CL E G H54894157798ORPHA032218505612482
HP:0003002HP:0003002Breast carcinoma0RNF43 CL E G H54894157798ORPHA022118505612482
HP:0003002HP:0003002Breast carcinoma0SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA014956770600993
HP:0003002HP:0003002Breast carcinoma0SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA013596770600993
HP:0003002HP:0003002Breast carcinoma0STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA0194511389602216
HP:0003002HP:0003002Breast carcinoma0STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA0182011389602216
HP:0003002HP:0003002Breast carcinoma0TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA0246411998191170
HP:0003002HP:0003002Breast carcinoma0TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA0228011998191170
HP:0003002HP:0003002Breast carcinoma0WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA0239112791604611
HP:0003002HP:0003002Breast carcinoma0WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA0194712791604611
HP:0003002HP:0006625Multifocal breast carcinoma1APC CL E G H324247806ORPHA09963583611731
HP:0003002HP:0006625Multifocal breast carcinoma1APC CL E G H32479665ORPHA09963583611731
HP:0003002HP:0006625Multifocal breast carcinoma1APC CL E G H324247806ORPHA09051583611731
HP:0003002HP:0006625Multifocal breast carcinoma1APC CL E G H32479665ORPHA09051583611731
HP:0003002HP:0006625Multifocal breast carcinoma1ATR CL E G H545614564Cutaneous telangiectasia and cancer syndrome, familial614564C3281203OMIM01007882601215
HP:0003002HP:0006625Multifocal breast carcinoma1ATR CL E G H545614564Cutaneous telangiectasia and cancer syndrome, familial614564C3281203OMIM0755882601215
HP:0003002HP:0006625Multifocal breast carcinoma1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA0125861100113705
HP:0003002HP:0006625Multifocal breast carcinoma1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA0122071100113705
HP:0003002HP:0006625Multifocal breast carcinoma1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA0147421101600185
HP:0003002HP:0006625Multifocal breast carcinoma1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA0139121101600185
HP:0003002HP:0006625Multifocal breast carcinoma1CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA010621787600160
HP:0003002HP:0006625Multifocal breast carcinoma1CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA09711787600160
HP:0003002HP:0006625Multifocal breast carcinoma1IDH1 CL E G H3417163634ORPHA0695382147700
HP:0003002HP:0006625Multifocal breast carcinoma1IDH1 CL E G H3417163634ORPHA0685382147700
HP:0003002HP:0006625Multifocal breast carcinoma1IDH2 CL E G H3418163634ORPHA01625383147650
HP:0003002HP:0006625Multifocal breast carcinoma1IDH2 CL E G H3418163634ORPHA01405383147650
HP:0003002HP:0006625Multifocal breast carcinoma1KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA03416407190070
HP:0003002HP:0006625Multifocal breast carcinoma1KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA03316407190070
HP:0003002HP:0006625Multifocal breast carcinoma1MLH1 CL E G H4292587Al Gazali Sabrinathan Nair syndromeORPHA037637127120436
HP:0003002HP:0006625Multifocal breast carcinoma1MLH1 CL E G H4292587Al Gazali Sabrinathan Nair syndromeORPHA035407127120436
HP:0003002HP:0006625Multifocal breast carcinoma1MSH2 CL E G H4436587Al Gazali Sabrinathan Nair syndromeORPHA049647325609309
HP:0003002HP:0006625Multifocal breast carcinoma1MSH2 CL E G H4436587Al Gazali Sabrinathan Nair syndromeORPHA046077325609309
HP:0003002HP:0006625Multifocal breast carcinoma1MSH6 CL E G H2956587Al Gazali Sabrinathan Nair syndromeORPHA062197329600678
HP:0003002HP:0006625Multifocal breast carcinoma1MSH6 CL E G H2956587Al Gazali Sabrinathan Nair syndromeORPHA057177329600678
HP:0003002HP:0006625Multifocal breast carcinoma1PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA0424526144610355
HP:0003002HP:0006625Multifocal breast carcinoma1PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA0392526144610355
HP:0003002HP:0006625Multifocal breast carcinoma1PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA061417068608092
HP:0003002HP:0006625Multifocal breast carcinoma1PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA054617068608092
HP:0003002HP:0006625Multifocal breast carcinoma1POLD1 CL E G H5424447877ORPHA031249175174761
HP:0003002HP:0006625Multifocal breast carcinoma1POLD1 CL E G H5424447877ORPHA027829175174761
HP:0003002HP:0006625Multifocal breast carcinoma1POLE CL E G H5426447877ORPHA057599177174762
HP:0003002HP:0006625Multifocal breast carcinoma1POLE CL E G H5426447877ORPHA050339177174762
HP:0003002HP:0006625Multifocal breast carcinoma1RNF43 CL E G H54894157798ORPHA032218505612482
HP:0003002HP:0006625Multifocal breast carcinoma1RNF43 CL E G H54894157798ORPHA022118505612482
HP:0003002HP:0006625Multifocal breast carcinoma1SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA014956770600993
HP:0003002HP:0006625Multifocal breast carcinoma1SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA013596770600993
HP:0003002HP:0006625Multifocal breast carcinoma1STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA0194511389602216
HP:0003002HP:0006625Multifocal breast carcinoma1STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA0182011389602216
HP:0003002HP:0006625Multifocal breast carcinoma1TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA0246411998191170
HP:0003002HP:0006625Multifocal breast carcinoma1TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA0228011998191170
HP:0003002HP:0006625Multifocal breast carcinoma1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA0239112791604611
HP:0003002HP:0006625Multifocal breast carcinoma1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA0194712791604611


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.