Human Phenotype Ontology 
Grandparent Node:
expandNeoplasm (HP:0002664)help
Parent Node:
expandAbnormal breast morphology (HP:0031093)help
Parent Node:
expandNeoplasm by anatomical site (HP:0011793)help
..Starting node
..expandNeoplasm of the breast (HP:0100013)help
Term ID: 100013
Name: Neoplasm of the breast
Synonym: Breast tumor; Breast tumour; Neoplasia of the breast; Tumours of the breast
Definition: A tumor (abnormal growth of tissue) of the breast.
Comments:
Reference: HP:0100013
Genes and Diseases:
 
       Child Nodes:
........expandBreast carcinoma (HP:0003002) help
................... HP:0006625 Multifocal breast carcinoma
........expandFibroadenoma of the breast (HP:0010619) help
........expandDuctal carcinoma in situ (HP:0030075) help
........expandLobular carcinoma in situ (HP:0030076) help

 Sister Nodes: 
..expandHematological neoplasm (HP:0004377) help
..expandMalignant mesothelioma (HP:0100001) help
..expandNeoplasm of fatty tissue (HP:0200013) help
..expandNeoplasm of head and neck (HP:0012288) help
..expandNeoplasm of striated muscle (HP:0009728) help
..expandNeoplasm of the ear (HP:0012780) help
..expandNeoplasm of the endocrine system (HP:0100568) help
..expandNeoplasm of the eye (HP:0100012) help
..expandNeoplasm of the gastrointestinal tract (HP:0007378) help
..expandNeoplasm of the genitourinary tract (HP:0007379) help
..expandNeoplasm of the heart (HP:0100544) help
..expandNeoplasm of the lip (HP:0100604) help
..expandNeoplasm of the nail (HP:0100826) help
..expandNeoplasm of the nervous system (HP:0004375) help
..expandNeoplasm of the oral cavity (HP:0100649) help
..expandNeoplasm of the pancreas (HP:0002894) help
..expandNeoplasm of the respiratory system (HP:0100606) help
..expandNeoplasm of the skeletal system (HP:0010622) help
..expandNeoplasm of the skin (HP:0008069) help
..expandNeoplasm of the thymus (HP:0100521) help
..expandRetroperitoneal chemodectomas (HP:0006729) help
..expandSoft tissue neoplasm (HP:0031459) help
..expandVascular neoplasm (HP:0100742) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0100013HP:0100013Neoplasm of the breast0LMNA CL E G H400079474ORPHA114866636150330
HP:0100013HP:0100013Neoplasm of the breast0LMNA CL E G H400079474ORPHA113476636150330
HP:0100013HP:0100013Neoplasm of the breast0PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA124169588601728
HP:0100013HP:0100013Neoplasm of the breast0PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA122469588601728
HP:0100013HP:0010619Fibroadenoma of the breast1LMNA CL E G H400079474ORPHA114866636150330
HP:0100013HP:0010619Fibroadenoma of the breast1LMNA CL E G H400079474ORPHA113476636150330
HP:0100013HP:0003002Breast carcinoma1LMNA CL E G H400079474ORPHA114866636150330
HP:0100013HP:0030075Ductal carcinoma in situ1LMNA CL E G H400079474ORPHA114866636150330
HP:0100013HP:0030076Lobular carcinoma in situ1LMNA CL E G H400079474ORPHA114866636150330
HP:0100013HP:0003002Breast carcinoma1LMNA CL E G H400079474ORPHA113476636150330
HP:0100013HP:0030075Ductal carcinoma in situ1LMNA CL E G H400079474ORPHA113476636150330
HP:0100013HP:0030076Lobular carcinoma in situ1LMNA CL E G H400079474ORPHA113476636150330
HP:0100013HP:0003002Breast carcinoma1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA124169588601728
HP:0100013HP:0030075Ductal carcinoma in situ1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA124169588601728
HP:0100013HP:0030076Lobular carcinoma in situ1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA124169588601728
HP:0100013HP:0003002Breast carcinoma1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA122469588601728
HP:0100013HP:0030075Ductal carcinoma in situ1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA122469588601728
HP:0100013HP:0030076Lobular carcinoma in situ1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA122469588601728
HP:0100013HP:0010619Fibroadenoma of the breast1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA124169588601728
HP:0100013HP:0010619Fibroadenoma of the breast1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA122469588601728
HP:0100013HP:0006625Multifocal breast carcinoma2LMNA CL E G H400079474ORPHA114866636150330
HP:0100013HP:0006625Multifocal breast carcinoma2LMNA CL E G H400079474ORPHA113476636150330
HP:0100013HP:0006625Multifocal breast carcinoma2PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA124169588601728
HP:0100013HP:0006625Multifocal breast carcinoma2PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA122469588601728
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100013HP:0100013Neoplasm of the breast0ACD CL E G H65057618ORPHA032125070609377
HP:0100013HP:0100013Neoplasm of the breast0ACD CL E G H65057618ORPHA022925070609377
HP:0100013HP:0100013Neoplasm of the breast0BAP1 CL E G H8314618ORPHA01683950603089
HP:0100013HP:0100013Neoplasm of the breast0BAP1 CL E G H8314618ORPHA01514950603089
HP:0100013HP:0100013Neoplasm of the breast0C11orf95 CL E G H65998251636ORPHA028449615699
HP:0100013HP:0100013Neoplasm of the breast0CDK4 CL E G H1019618ORPHA06401773123829
HP:0100013HP:0100013Neoplasm of the breast0CDK4 CL E G H1019618ORPHA05691773123829
HP:0100013HP:0100013Neoplasm of the breast0CDKN2A CL E G H1029618ORPHA010621787600160
HP:0100013HP:0100013Neoplasm of the breast0CDKN2A CL E G H1029618ORPHA09711787600160
HP:0100013HP:0100013Neoplasm of the breast0CDKN2B CL E G H1030618ORPHA01011788600431
HP:0100013HP:0100013Neoplasm of the breast0CDKN2B CL E G H1030618ORPHA0991788600431
HP:0100013HP:0100013Neoplasm of the breast0CDKN2D CL E G H1032618ORPHA0181790600927
HP:0100013HP:0100013Neoplasm of the breast0CDKN2D CL E G H1032618ORPHA0171790600927
HP:0100013HP:0100013Neoplasm of the breast0GNAS CL E G H2778562ORPHA03714392139320
HP:0100013HP:0100013Neoplasm of the breast0GNAS CL E G H2778562ORPHA03334392139320
HP:0100013HP:0100013Neoplasm of the breast0MC1R CL E G H4157618ORPHA04286929155555
HP:0100013HP:0100013Neoplasm of the breast0MC1R CL E G H4157618ORPHA03766929155555
HP:0100013HP:0100013Neoplasm of the breast0MGMT CL E G H4255618ORPHA0947059156569
HP:0100013HP:0100013Neoplasm of the breast0MITF CL E G H4286618ORPHA03497105156845
HP:0100013HP:0100013Neoplasm of the breast0MITF CL E G H4286618ORPHA03417105156845
HP:0100013HP:0100013Neoplasm of the breast0POT1 CL E G H25913618ORPHA0108217284606478
HP:0100013HP:0100013Neoplasm of the breast0POT1 CL E G H25913618ORPHA091117284606478
HP:0100013HP:0100013Neoplasm of the breast0PTEN CL E G H5728137608ORPHA024169588601728
HP:0100013HP:0100013Neoplasm of the breast0PTEN CL E G H5728137608ORPHA022469588601728
HP:0100013HP:0100013Neoplasm of the breast0RELA CL E G H5970251636ORPHA0999955164014
HP:0100013HP:0100013Neoplasm of the breast0RELA CL E G H5970251636ORPHA0449955164014
HP:0100013HP:0100013Neoplasm of the breast0TERF2IP CL E G H54386618ORPHA04819246605061
HP:0100013HP:0100013Neoplasm of the breast0TERF2IP CL E G H54386618ORPHA04719246605061
HP:0100013HP:0100013Neoplasm of the breast0TERT CL E G H7015618ORPHA0188711730187270
HP:0100013HP:0100013Neoplasm of the breast0TERT CL E G H7015618ORPHA0160611730187270
HP:0100013HP:0030075Ductal carcinoma in situ1ACD CL E G H65057618ORPHA032125070609377
HP:0100013HP:0030076Lobular carcinoma in situ1ACD CL E G H65057618ORPHA032125070609377
HP:0100013HP:0003002Breast carcinoma1ACD CL E G H65057618ORPHA032125070609377
HP:0100013HP:0030076Lobular carcinoma in situ1ACD CL E G H65057618ORPHA022925070609377
HP:0100013HP:0003002Breast carcinoma1ACD CL E G H65057618ORPHA022925070609377
HP:0100013HP:0030075Ductal carcinoma in situ1ACD CL E G H65057618ORPHA022925070609377
HP:0100013HP:0010619Fibroadenoma of the breast1ACD CL E G H65057618ORPHA032125070609377
HP:0100013HP:0010619Fibroadenoma of the breast1ACD CL E G H65057618ORPHA022925070609377
HP:0100013HP:0003002Breast carcinoma1BAP1 CL E G H8314618ORPHA01683950603089
HP:0100013HP:0030075Ductal carcinoma in situ1BAP1 CL E G H8314618ORPHA01683950603089
HP:0100013HP:0030076Lobular carcinoma in situ1BAP1 CL E G H8314618ORPHA01683950603089
HP:0100013HP:0003002Breast carcinoma1BAP1 CL E G H8314618ORPHA01514950603089
HP:0100013HP:0030075Ductal carcinoma in situ1BAP1 CL E G H8314618ORPHA01514950603089
HP:0100013HP:0030076Lobular carcinoma in situ1BAP1 CL E G H8314618ORPHA01514950603089
HP:0100013HP:0010619Fibroadenoma of the breast1BAP1 CL E G H8314618ORPHA01683950603089
HP:0100013HP:0010619Fibroadenoma of the breast1BAP1 CL E G H8314618ORPHA01514950603089
HP:0100013HP:0010619Fibroadenoma of the breast1C11orf95 CL E G H65998251636ORPHA028449615699
HP:0100013HP:0030075Ductal carcinoma in situ1C11orf95 CL E G H65998251636ORPHA028449615699
HP:0100013HP:0003002Breast carcinoma1C11orf95 CL E G H65998251636ORPHA028449615699
HP:0100013HP:0030076Lobular carcinoma in situ1C11orf95 CL E G H65998251636ORPHA028449615699
HP:0100013HP:0003002Breast carcinoma1CDK4 CL E G H1019618ORPHA06401773123829
HP:0100013HP:0030075Ductal carcinoma in situ1CDK4 CL E G H1019618ORPHA06401773123829
HP:0100013HP:0030076Lobular carcinoma in situ1CDK4 CL E G H1019618ORPHA06401773123829
HP:0100013HP:0003002Breast carcinoma1CDK4 CL E G H1019618ORPHA05691773123829
HP:0100013HP:0030075Ductal carcinoma in situ1CDK4 CL E G H1019618ORPHA05691773123829
HP:0100013HP:0030076Lobular carcinoma in situ1CDK4 CL E G H1019618ORPHA05691773123829
HP:0100013HP:0010619Fibroadenoma of the breast1CDK4 CL E G H1019618ORPHA06401773123829
HP:0100013HP:0010619Fibroadenoma of the breast1CDK4 CL E G H1019618ORPHA05691773123829
HP:0100013HP:0030076Lobular carcinoma in situ1CDKN2A CL E G H1029618ORPHA010621787600160
HP:0100013HP:0003002Breast carcinoma1CDKN2A CL E G H1029618ORPHA010621787600160
HP:0100013HP:0030075Ductal carcinoma in situ1CDKN2A CL E G H1029618ORPHA010621787600160
HP:0100013HP:0030076Lobular carcinoma in situ1CDKN2A CL E G H1029618ORPHA09711787600160
HP:0100013HP:0003002Breast carcinoma1CDKN2A CL E G H1029618ORPHA09711787600160
HP:0100013HP:0030075Ductal carcinoma in situ1CDKN2A CL E G H1029618ORPHA09711787600160
HP:0100013HP:0010619Fibroadenoma of the breast1CDKN2A CL E G H1029618ORPHA010621787600160
HP:0100013HP:0010619Fibroadenoma of the breast1CDKN2A CL E G H1029618ORPHA09711787600160
HP:0100013HP:0003002Breast carcinoma1CDKN2B CL E G H1030618ORPHA01011788600431
HP:0100013HP:0030075Ductal carcinoma in situ1CDKN2B CL E G H1030618ORPHA01011788600431
HP:0100013HP:0030076Lobular carcinoma in situ1CDKN2B CL E G H1030618ORPHA01011788600431
HP:0100013HP:0003002Breast carcinoma1CDKN2B CL E G H1030618ORPHA0991788600431
HP:0100013HP:0030075Ductal carcinoma in situ1CDKN2B CL E G H1030618ORPHA0991788600431
HP:0100013HP:0030076Lobular carcinoma in situ1CDKN2B CL E G H1030618ORPHA0991788600431
HP:0100013HP:0010619Fibroadenoma of the breast1CDKN2B CL E G H1030618ORPHA01011788600431
HP:0100013HP:0010619Fibroadenoma of the breast1CDKN2B CL E G H1030618ORPHA0991788600431
HP:0100013HP:0003002Breast carcinoma1CDKN2D CL E G H1032618ORPHA0181790600927
HP:0100013HP:0030075Ductal carcinoma in situ1CDKN2D CL E G H1032618ORPHA0181790600927
HP:0100013HP:0030076Lobular carcinoma in situ1CDKN2D CL E G H1032618ORPHA0181790600927
HP:0100013HP:0030075Ductal carcinoma in situ1CDKN2D CL E G H1032618ORPHA0171790600927
HP:0100013HP:0030076Lobular carcinoma in situ1CDKN2D CL E G H1032618ORPHA0171790600927
HP:0100013HP:0003002Breast carcinoma1CDKN2D CL E G H1032618ORPHA0171790600927
HP:0100013HP:0010619Fibroadenoma of the breast1CDKN2D CL E G H1032618ORPHA0181790600927
HP:0100013HP:0010619Fibroadenoma of the breast1CDKN2D CL E G H1032618ORPHA0171790600927
HP:0100013HP:0003002Breast carcinoma1GNAS CL E G H2778562ORPHA03714392139320
HP:0100013HP:0030075Ductal carcinoma in situ1GNAS CL E G H2778562ORPHA03714392139320
HP:0100013HP:0030076Lobular carcinoma in situ1GNAS CL E G H2778562ORPHA03714392139320
HP:0100013HP:0003002Breast carcinoma1GNAS CL E G H2778562ORPHA03334392139320
HP:0100013HP:0030075Ductal carcinoma in situ1GNAS CL E G H2778562ORPHA03334392139320
HP:0100013HP:0030076Lobular carcinoma in situ1GNAS CL E G H2778562ORPHA03334392139320
HP:0100013HP:0010619Fibroadenoma of the breast1GNAS CL E G H2778562ORPHA03714392139320
HP:0100013HP:0010619Fibroadenoma of the breast1GNAS CL E G H2778562ORPHA03334392139320
HP:0100013HP:0030076Lobular carcinoma in situ1MC1R CL E G H4157618ORPHA04286929155555
HP:0100013HP:0003002Breast carcinoma1MC1R CL E G H4157618ORPHA04286929155555
HP:0100013HP:0030075Ductal carcinoma in situ1MC1R CL E G H4157618ORPHA04286929155555
HP:0100013HP:0030076Lobular carcinoma in situ1MC1R CL E G H4157618ORPHA03766929155555
HP:0100013HP:0003002Breast carcinoma1MC1R CL E G H4157618ORPHA03766929155555
HP:0100013HP:0030075Ductal carcinoma in situ1MC1R CL E G H4157618ORPHA03766929155555
HP:0100013HP:0010619Fibroadenoma of the breast1MC1R CL E G H4157618ORPHA04286929155555
HP:0100013HP:0010619Fibroadenoma of the breast1MC1R CL E G H4157618ORPHA03766929155555
HP:0100013HP:0003002Breast carcinoma1MGMT CL E G H4255618ORPHA0947059156569
HP:0100013HP:0030076Lobular carcinoma in situ1MGMT CL E G H4255618ORPHA0947059156569
HP:0100013HP:0010619Fibroadenoma of the breast1MGMT CL E G H4255618ORPHA0947059156569
HP:0100013HP:0030075Ductal carcinoma in situ1MGMT CL E G H4255618ORPHA0947059156569
HP:0100013HP:0010619Fibroadenoma of the breast1MITF CL E G H4286618ORPHA03497105156845
HP:0100013HP:0010619Fibroadenoma of the breast1MITF CL E G H4286618ORPHA03417105156845
HP:0100013HP:0030076Lobular carcinoma in situ1MITF CL E G H4286618ORPHA03497105156845
HP:0100013HP:0003002Breast carcinoma1MITF CL E G H4286618ORPHA03497105156845
HP:0100013HP:0030075Ductal carcinoma in situ1MITF CL E G H4286618ORPHA03497105156845
HP:0100013HP:0030076Lobular carcinoma in situ1MITF CL E G H4286618ORPHA03417105156845
HP:0100013HP:0003002Breast carcinoma1MITF CL E G H4286618ORPHA03417105156845
HP:0100013HP:0030075Ductal carcinoma in situ1MITF CL E G H4286618ORPHA03417105156845
HP:0100013HP:0010619Fibroadenoma of the breast1POT1 CL E G H25913618ORPHA0108217284606478
HP:0100013HP:0010619Fibroadenoma of the breast1POT1 CL E G H25913618ORPHA091117284606478
HP:0100013HP:0003002Breast carcinoma1POT1 CL E G H25913618ORPHA0108217284606478
HP:0100013HP:0030075Ductal carcinoma in situ1POT1 CL E G H25913618ORPHA0108217284606478
HP:0100013HP:0030076Lobular carcinoma in situ1POT1 CL E G H25913618ORPHA0108217284606478
HP:0100013HP:0003002Breast carcinoma1POT1 CL E G H25913618ORPHA091117284606478
HP:0100013HP:0030075Ductal carcinoma in situ1POT1 CL E G H25913618ORPHA091117284606478
HP:0100013HP:0030076Lobular carcinoma in situ1POT1 CL E G H25913618ORPHA091117284606478
HP:0100013HP:0010619Fibroadenoma of the breast1PTEN CL E G H5728137608ORPHA024169588601728
HP:0100013HP:0010619Fibroadenoma of the breast1PTEN CL E G H5728137608ORPHA022469588601728
HP:0100013HP:0030075Ductal carcinoma in situ1PTEN CL E G H5728137608ORPHA024169588601728
HP:0100013HP:0030076Lobular carcinoma in situ1PTEN CL E G H5728137608ORPHA024169588601728
HP:0100013HP:0003002Breast carcinoma1PTEN CL E G H5728137608ORPHA024169588601728
HP:0100013HP:0030075Ductal carcinoma in situ1PTEN CL E G H5728137608ORPHA022469588601728
HP:0100013HP:0030076Lobular carcinoma in situ1PTEN CL E G H5728137608ORPHA022469588601728
HP:0100013HP:0003002Breast carcinoma1PTEN CL E G H5728137608ORPHA022469588601728
HP:0100013HP:0030075Ductal carcinoma in situ1RELA CL E G H5970251636ORPHA0999955164014
HP:0100013HP:0030076Lobular carcinoma in situ1RELA CL E G H5970251636ORPHA0999955164014
HP:0100013HP:0003002Breast carcinoma1RELA CL E G H5970251636ORPHA0999955164014
HP:0100013HP:0030076Lobular carcinoma in situ1RELA CL E G H5970251636ORPHA0449955164014
HP:0100013HP:0003002Breast carcinoma1RELA CL E G H5970251636ORPHA0449955164014
HP:0100013HP:0030075Ductal carcinoma in situ1RELA CL E G H5970251636ORPHA0449955164014
HP:0100013HP:0010619Fibroadenoma of the breast1RELA CL E G H5970251636ORPHA0999955164014
HP:0100013HP:0010619Fibroadenoma of the breast1RELA CL E G H5970251636ORPHA0449955164014
HP:0100013HP:0010619Fibroadenoma of the breast1TERF2IP CL E G H54386618ORPHA04819246605061
HP:0100013HP:0010619Fibroadenoma of the breast1TERF2IP CL E G H54386618ORPHA04719246605061
HP:0100013HP:0030075Ductal carcinoma in situ1TERF2IP CL E G H54386618ORPHA04819246605061
HP:0100013HP:0030076Lobular carcinoma in situ1TERF2IP CL E G H54386618ORPHA04819246605061
HP:0100013HP:0003002Breast carcinoma1TERF2IP CL E G H54386618ORPHA04819246605061
HP:0100013HP:0030075Ductal carcinoma in situ1TERF2IP CL E G H54386618ORPHA04719246605061
HP:0100013HP:0030076Lobular carcinoma in situ1TERF2IP CL E G H54386618ORPHA04719246605061
HP:0100013HP:0003002Breast carcinoma1TERF2IP CL E G H54386618ORPHA04719246605061
HP:0100013HP:0010619Fibroadenoma of the breast1TERT CL E G H7015618ORPHA0188711730187270
HP:0100013HP:0010619Fibroadenoma of the breast1TERT CL E G H7015618ORPHA0160611730187270
HP:0100013HP:0030076Lobular carcinoma in situ1TERT CL E G H7015618ORPHA0188711730187270
HP:0100013HP:0003002Breast carcinoma1TERT CL E G H7015618ORPHA0188711730187270
HP:0100013HP:0030075Ductal carcinoma in situ1TERT CL E G H7015618ORPHA0188711730187270
HP:0100013HP:0003002Breast carcinoma1TERT CL E G H7015618ORPHA0160611730187270
HP:0100013HP:0030075Ductal carcinoma in situ1TERT CL E G H7015618ORPHA0160611730187270
HP:0100013HP:0030076Lobular carcinoma in situ1TERT CL E G H7015618ORPHA0160611730187270
HP:0100013HP:0006625Multifocal breast carcinoma2ACD CL E G H65057618ORPHA032125070609377
HP:0100013HP:0006625Multifocal breast carcinoma2ACD CL E G H65057618ORPHA022925070609377
HP:0100013HP:0006625Multifocal breast carcinoma2BAP1 CL E G H8314618ORPHA01683950603089
HP:0100013HP:0006625Multifocal breast carcinoma2BAP1 CL E G H8314618ORPHA01514950603089
HP:0100013HP:0006625Multifocal breast carcinoma2C11orf95 CL E G H65998251636ORPHA028449615699
HP:0100013HP:0006625Multifocal breast carcinoma2CDK4 CL E G H1019618ORPHA06401773123829
HP:0100013HP:0006625Multifocal breast carcinoma2CDK4 CL E G H1019618ORPHA05691773123829
HP:0100013HP:0006625Multifocal breast carcinoma2CDKN2A CL E G H1029618ORPHA010621787600160
HP:0100013HP:0006625Multifocal breast carcinoma2CDKN2A CL E G H1029618ORPHA09711787600160
HP:0100013HP:0006625Multifocal breast carcinoma2CDKN2B CL E G H1030618ORPHA01011788600431
HP:0100013HP:0006625Multifocal breast carcinoma2CDKN2B CL E G H1030618ORPHA0991788600431
HP:0100013HP:0006625Multifocal breast carcinoma2CDKN2D CL E G H1032618ORPHA0181790600927
HP:0100013HP:0006625Multifocal breast carcinoma2CDKN2D CL E G H1032618ORPHA0171790600927
HP:0100013HP:0006625Multifocal breast carcinoma2GNAS CL E G H2778562ORPHA03714392139320
HP:0100013HP:0006625Multifocal breast carcinoma2GNAS CL E G H2778562ORPHA03334392139320
HP:0100013HP:0006625Multifocal breast carcinoma2MC1R CL E G H4157618ORPHA04286929155555
HP:0100013HP:0006625Multifocal breast carcinoma2MC1R CL E G H4157618ORPHA03766929155555
HP:0100013HP:0006625Multifocal breast carcinoma2MGMT CL E G H4255618ORPHA0947059156569
HP:0100013HP:0006625Multifocal breast carcinoma2MITF CL E G H4286618ORPHA03497105156845
HP:0100013HP:0006625Multifocal breast carcinoma2MITF CL E G H4286618ORPHA03417105156845
HP:0100013HP:0006625Multifocal breast carcinoma2POT1 CL E G H25913618ORPHA0108217284606478
HP:0100013HP:0006625Multifocal breast carcinoma2POT1 CL E G H25913618ORPHA091117284606478
HP:0100013HP:0006625Multifocal breast carcinoma2PTEN CL E G H5728137608ORPHA024169588601728
HP:0100013HP:0006625Multifocal breast carcinoma2PTEN CL E G H5728137608ORPHA022469588601728
HP:0100013HP:0006625Multifocal breast carcinoma2RELA CL E G H5970251636ORPHA0999955164014
HP:0100013HP:0006625Multifocal breast carcinoma2RELA CL E G H5970251636ORPHA0449955164014
HP:0100013HP:0006625Multifocal breast carcinoma2TERF2IP CL E G H54386618ORPHA04819246605061
HP:0100013HP:0006625Multifocal breast carcinoma2TERF2IP CL E G H54386618ORPHA04719246605061
HP:0100013HP:0006625Multifocal breast carcinoma2TERT CL E G H7015618ORPHA0188711730187270
HP:0100013HP:0006625Multifocal breast carcinoma2TERT CL E G H7015618ORPHA0160611730187270


Genes (68) :AAGAB ACD AKT1 APC ATR BAP1 BARD1 BRCA1 BRCA2 BRIP1 C11ORF95 CDH1 CDK4 CDKN2A CDKN2B CDKN2D CHEK2 COL14A1 CTNNB1 ESR1 FGFR2 GNAS IDH1 IDH2 KLLN KRAS LMNA MC1R MDM2 MGMT MITF MLH1 MRE11 MSH2 MSH6 NBN NTHL1 OPCML PALB2 PALLD PIK3CA POLD1 POLE POT1 PPM1D PRKAR1A PRKN PRLR PTEN RAD50 RAD51 RAD51C RAD51D RB1CC1 RELA RNF43 SDHB SDHC SDHD SEC23B SLC22A18 SMAD4 STK11 TERF2IP TERT TP53 TWIST1 WRN

Diseases (38) :618 251636 562 79474 137608 109 79501 201 615109 114480 167000 247806 79665 175100 614564 145 1333 617883 524 609265 101400 163634 587 158320 454840 616415 615108 447877 1359 615554 65285 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.