Human Phenotype Ontology 
Grandparent Node:
expandAll (HP:0000001)help
Parent Node:
expandPhenotypic abnormality (HP:0000118)help
..Starting node
..expandAbnormality of the breast (HP:0000769)help
Term ID: 769
Name: Abnormality of the breast
Synonym: Abnormality of the breast
Definition: An abnormality of the breast.
Comments:
Reference: HP:0000769
Genes and Diseases:
 
       Child Nodes:
........expandAbnormal breast morphology (HP:0031093) help
................... HP:0000771 Gynecomastia
................... HP:0004404 Abnormal nipple morphology
................... HP:0010311 Aplasia/Hypoplasia of the breasts
................... HP:0010312 Asymmetry of the breasts
................... HP:0010313 Breast hypertrophy
................... HP:0100013 Neoplasm of the breast
................... HP:0100853 Hypoplastic areola
........expandAbnormal breast physiology (HP:0031094) help
................... HP:0031109 Agalactia
................... HP:0100829 Galactorrhea

 Sister Nodes: 
..expandAbnormal cellular phenotype (HP:0025354) help
..expandAbnormality of blood and blood-forming tissues (HP:0001871) help
..expandAbnormality of connective tissue (HP:0003549) help
..expandAbnormality of head or neck (HP:0000152) help
..expandAbnormality of limbs (HP:0040064) help
..expandAbnormality of metabolism/homeostasis (HP:0001939) help
..expandAbnormality of prenatal development or birth (HP:0001197) help
..expandAbnormality of the cardiovascular system (HP:0001626) help
..expandAbnormality of the digestive system (HP:0025031) help
..expandAbnormality of the ear (HP:0000598) help
..expandAbnormality of the endocrine system (HP:0000818) help
..expandAbnormality of the eye (HP:0000478) help
..expandAbnormality of the genitourinary system (HP:0000119) help
..expandAbnormality of the immune system (HP:0002715) help
..expandAbnormality of the integument (HP:0001574) help
..expandAbnormality of the musculature (HP:0003011) help
..expandAbnormality of the nervous system (HP:0000707) help
..expandAbnormality of the respiratory system (HP:0002086) help
..expandAbnormality of the skeletal system (HP:0000924) help
..expandAbnormality of the thoracic cavity (HP:0045027) help
..expandAbnormality of the voice (HP:0001608) help
..expandConstitutional symptom (HP:0025142) help
..expandGrowth abnormality (HP:0001507) help
..expandNeoplasm (HP:0002664) help
..expandobsolete Abnormal test result (HP:0500014) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000769HP:0000769Abnormality of the breast0FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0000769Abnormality of the breast0KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0031094Abnormal breast physiology1FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0031093Abnormal breast morphology1FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0031093Abnormal breast morphology1KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0031094Abnormal breast physiology1KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0032408Breast mass2FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0010313Breast hypertrophy2FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0032314Abnormal areolar morphology2FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0010312Asymmetry of the breasts2FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0100013Neoplasm of the breast2FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0100829Galactorrhea2FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0004404Abnormal nipple morphology2FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0000771Gynecomastia2FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0031109Agalactia2FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0010311Aplasia/Hypoplasia of the breasts2FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0004404Abnormal nipple morphology2KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0000771Gynecomastia2KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0031109Agalactia2KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0010311Aplasia/Hypoplasia of the breasts2KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0032408Breast mass2KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0010313Breast hypertrophy2KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0010312Asymmetry of the breasts2KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0100013Neoplasm of the breast2KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0100829Galactorrhea2KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0032314Abnormal areolar morphology2KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0100853Hypoplastic areola3FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0031509Dry nipple3FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0002558Supernumerary nipple3FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0003187Breast hypoplasia3FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0032315Areolar fullness3FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0003002Breast carcinoma3FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0030076Lobular carcinoma in situ3FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0004405Prominent nipples3FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0040157Abnormal intermamillary distance3FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0010619Fibroadenoma of the breast3FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0002562Low-set nipples3FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0100783Breast aplasia3FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0006709Aplasia/Hypoplasia of the nipples3FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0030075Ductal carcinoma in situ3FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0003186Inverted nipples3FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0006709Aplasia/Hypoplasia of the nipples3KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0030075Ductal carcinoma in situ3KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0003186Inverted nipples3KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0100853Hypoplastic areola3KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0031509Dry nipple3KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0002558Supernumerary nipple3KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0032315Areolar fullness3KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0003002Breast carcinoma3KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0030076Lobular carcinoma in situ3KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0004405Prominent nipples3KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0003187Breast hypoplasia3KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0040157Abnormal intermamillary distance3KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0010619Fibroadenoma of the breast3KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0002562Low-set nipples3KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0100783Breast aplasia3KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0012814Bilateral breast hypoplasia4FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0006610Wide intermamillary distance4FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0006625Multifocal breast carcinoma4FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0040158Short intermamillary distance4FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0002557Hypoplastic nipples4FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0002561Absent nipple4FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0012813Unilateral breast hypoplasia4FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12321092605597
HP:0000769HP:0012813Unilateral breast hypoplasia4KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0006610Wide intermamillary distance4KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0006625Multifocal breast carcinoma4KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0012814Bilateral breast hypoplasia4KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0040158Short intermamillary distance4KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0002557Hypoplastic nipples4KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0000769HP:0002561Absent nipple4KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (292) :A2ML1 AAGAB ABCD4 ACD ACOX1 ACTB AIP AKT1 AKT2 ALG11 ALG9 ALMS1 AMER1 ANOS1 ANTXR1 APC AR ARHGAP31 ASXL1 ATR AXL B3GLCT BAP1 BARD1 BMP15 BRAF BRCA1 BRCA2 BRIP1 C11ORF95 CBL CCDC141 CCDC22 CDC45 CDC6 CDH1 CDH11 CDH23 CDK4 CDKN2A CDKN2B CDKN2D CDT1 CHD7 CHEK2 CHRNG CHST3 CKAP2L COL14A1 COL4A3BP COLEC10 COLEC11 COQ8A COX7B CPT2 CSPP1 CTNNB1 CUL4B CYB5A CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 DCC DHCR7 DHODH DMRT3 DOLK DPAGT1 DUSP6 EBF3 EDA EDARADD EFNB1 ERCC6 ERMARD ESR1 EZH2 FEZF1 FGF17 FGF8 FGFR1 FGFR2 FIG4 FLRT3 FMR1 FOXL2 FRAS1 FREM2 FSHB FSHR GATA4 GLI2 GMNN GNAS GNE GNPTAB GNRH1 GNRHR GPC3 GPC4 GPR101 GRIP1 HDAC4 HDAC8 HESX1 HFE HNRNPK HPGD HS6ST1 HSD17B3 HSD3B2 IBA57 ICK IDH1 IDH2 IGF1R IKBKG IL17RD INSR INTU ITGA3 KANSL1 KAT6B KCTD1 KDM1A KDM6A KIAA0586 KIF1BP KISS1 KISS1R KLHL7 KLLN KMT2A KRAS LAS1L LEP LEPR LETM1 LHB LHX4 LMNA LZTR1 MAP3K1 MAPRE2 MASP1 MC1R MDH2 MDM2 MEGF8 MEN1 MGMT MITF MLH1 MRE11 MRPS22 MSH2 MSH6 NBN NECTIN1 NELFA NIPBL NR0B1 NR5A1 NRAS NSD2 NSMF NTHL1 NUP107 OFD1 OPCML ORC1 ORC4 ORC6 OTX2 PACS1 PALB2 PALLD PEX3 PHF6 PIGL PIGN PIGT PIK3CA PLXND1 PMM2 PNPLA6 POC1A POLD1 POLE POLR3A POLR3B PORCN POT1 POU1F1 PPM1D PRKAR1A PRKN PRLR PROK2 PROKR2 PROP1 PSMC3IP PTEN PTPN11 PTPRF RAB3GAP2 RAD21 RAD50 RAD51 RAD51C RAD51D RAF1 RASA2 RB1CC1 RBM28 RELA REV3L RFT1 RIPK4 RIT1 RNF216 RNF43 RRAS RSPO1 RSPO2 SDHB SDHC SDHD SEC23B SEMA3A SEMA3E SETBP1 SETD5 SH3PXD2B SLC22A18 SLC25A24 SLC25A46 SLC29A3 SLC52A2 SLC52A3 SLCO2A1 SMAD4 SMARCA2 SMC1A SMC3 SMCHD1 SMS SOS1 SOS2 SOX10 SOX3 SOX9 SPIDR SPRY4 SRA1 SRY STK11 TAC3 TACR3 TBL1XR1 TBX3 TCF4 TERF2IP TERT TFAP2A TFAP2B TMCO1 TP53 TP63 TUBB TWIST1 TWIST2 UBA1 UBE2A UBR1 USP9X VAC14 VAMP7 WAC WASHC5 WDR11 WNT3 WNT7A WRN WT1 WWOX ZBTB20 ZEB2 ZFPM2 ZMPSTE24

Diseases (232) :110100 300867 618 64755 2965 963 102200 201 615109 293964 240900 203800 478 432 308700 90797 99429 481 300068 313200 312300 146110 243 251636 91347 139485 300354 90796 289548 168558 90795 90793 202110 139300 201910 251510 75857 147950 261483 95494 562 3459 465508 2796 752 264300 90791 508 614748 614837 309585 66628 614962 179494 228300 79474 614838 127 301900 615108 1173 264090 397685 615555 90695 137608 109 158350 612079 610644 137834 168569 97229 2250 1772 175200 1896 3042 259050 79501 264470 114480 167000 613661 608776 230740 247806 79665 175100 100300 97297 605039 614564 145 1333 617883 7 2554 524 613804 609265 3255 293843 397715 263750 246 91131 608093 617330 1520 304110 785 277590 101400 3472 373 312870 1001 616580 163634 464 308300 246200 617926 2036 181270 616728 280 90153 257920 617339 614976 587 158320 454840 616415 224690 613800 613803 617370 3474 280000 2059 615398 570 212065 614813 447877 305600 1359 615554 65285 212720 244310 612015 157798 3301 616858 616505 2869 602342 3138 181450 2896 113620 46627 213980 151623 69085 1071 978 103285 106260 1231 200110 920 616708 902 235730 648 614857 300373 709 261540 613563 1299 211380 265000 143095 616351 300887 608836 818 305100 614940 614941 214150 216340 2052 219000 52901 251071 269921 252500 199 615330 612651 73273 610443 609460 740 616734 3253 122470 300209 615009 616001 263650 269150 612289 3051 309583 610733 604292 603543 156610 209885 1145 300860 243800 300968 276820
 

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