Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | | | | 7 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | | | | 53 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ACD CL E G H | 65057 | 25070 | ORPHA:618 | Familial melanoma | | | | 11 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | | | | 120 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ACTB CL E G H | 60 | 132 | ORPHA:64755 | Becker nevus syndrome | | | | 72 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | | | | 6 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | | | | 95 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | AIP CL E G H | 9049 | 358 | OMIM:102200 | Pituitary adenoma, growth hormone-secreting, 1 | | | | 95 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | AIP CL E G H | 9049 | 358 | ORPHA:99725 | Pituitary gigantism | | | | 95 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | | | | 95 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | AKT1 CL E G H | 207 | 391 | OMIM:114480 | Breast cancer | | | | 54 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | | | | 54 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | | | | 54 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | AKT1 CL E G H | 207 | 391 | OMIM:167000 | Ovarian cancer | | | | 54 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | AKT2 CL E G H | 208 | 392 | ORPHA:293964 | Hypoinsulinemic hypoglycemia and body hemihypertrophy | | | | 12 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | AKT2 CL E G H | 208 | 392 | OMIM:240900 | Hypoinsulinemic hypoglycemia with hemihypertrophy | | | | 12 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ALG11 CL E G H | 440138 | 32456 | ORPHA:280071 | ALG11-CDG | | | | 41 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ALG11 CL E G H | 440138 | 32456 | OMIM:613661 | Congenital disorder of glycosylation, type Ip | | | | 41 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | | | | 68 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:619036 | MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA | | | | 12 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | | | | 37 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | | | | 46 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | | | | 93 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | | | | 93 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | | | | 404 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | | | | 34 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | | | | 65 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | | | | 65 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | | | | 8 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | | | | 3179 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | APC CL E G H | 324 | 583 | OMIM:135290 | Desmoid disease, hereditary | | | | 3179 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | | | | 3179 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | AR CL E G H | 367 | 644 | OMIM:300068 | Androgen insensitivity syndrome | | | | 125 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | AR CL E G H | 367 | 644 | ORPHA:481 | Kennedy disease | | | | 125 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | AR CL E G H | 367 | 644 | ORPHA:90797 | Partial androgen insensitivity syndrome | | | | 125 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | AR CL E G H | 367 | 644 | OMIM:312300 | Reifenstein syndrome | | | | 125 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | AR CL E G H | 367 | 644 | OMIM:313200 | Spinal and bulbar muscular atrophy, X-linked 1 | | | | 125 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | | | | 3 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | | | | 147 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ATM CL E G H | 472 | 795 | OMIM:114480 | Breast cancer | | | | 3267 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | | | | 16 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ATR CL E G H | 545 | 882 | OMIM:614564 | Cutaneous telangiectasia and cancer syndrome, familial | | | | 168 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | AXIN2 CL E G H | 8313 | 904 | OMIM:608615 | OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS | | | | 435 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | AXL CL E G H | 558 | 905 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | | | | 36 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | | | | 36 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:618 | Familial melanoma | | | | 184 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | BARD1 CL E G H | 580 | 952 | OMIM:114480 | Breast cancer | | | | 790 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | BARD1 CL E G H | 580 | 952 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 790 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | BMP15 CL E G H | 9210 | 1068 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 16 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | BNC1 CL E G H | 646 | 1081 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | BRCA1 CL E G H | 672 | 1100 | OMIM:114480 | Breast cancer | | | | 5769 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | BRCA1 CL E G H | 672 | 1100 | OMIM:604370 | Breast-Ovarian cancer, familial, susceptibility to, 1 | | | | 5769 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 5769 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | BRCA1 CL E G H | 672 | 1100 | OMIM:617883 | Fanconi anemia, complementation group S | | | | 5769 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 5769 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | BRCA2 CL E G H | 675 | 1101 | OMIM:114480 | Breast cancer | | | | 7642 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | BRCA2 CL E G H | 675 | 1101 | OMIM:612555 | Breast-Ovarian cancer, familial, susceptibility to, 2 | | | | 7642 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 7642 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 7642 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | BRIP1 CL E G H | 83990 | 20473 | OMIM:114480 | Breast cancer | | | | 1086 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 1086 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | C18ORF32 CL E G H | 497661 | 31690 | OMIM:619985 | | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CASP8 CL E G H | 841 | 1509 | OMIM:114480 | Breast cancer | | | | 37 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | | | | 317 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | | | | 317 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CCDC141 CL E G H | 285025 | 26821 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | | | | 33 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CDC45 CL E G H | 8318 | 1739 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 9 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CDC45 CL E G H | 8318 | 1739 | OMIM:617063 | Meier-Gorlin syndrome 7 | | | | 9 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CDC6 CL E G H | 990 | 1744 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 31 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CDH1 CL E G H | 999 | 1748 | OMIM:114480 | Breast cancer | | | | 1003 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CDH1 CL E G H | 999 | 1748 | OMIM:167000 | Ovarian cancer | | | | 1003 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | | | | 636 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | | | | 636 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CDK4 CL E G H | 1019 | 1773 | ORPHA:618 | Familial melanoma | | | | 145 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 102 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:618 | Familial melanoma | | | | 289 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 289 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | | | | 289 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:618 | Familial melanoma | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CDT1 CL E G H | 81620 | 24576 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 50 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CDT1 CL E G H | 81620 | 24576 | OMIM:613804 | Meier-Gorlin syndrome 4 | | | | 50 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CERT1 CL E G H | 10087 | 2205 | OMIM:616351 | Mental retardation, autosomal dominant 34 | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | | | | 16 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | | | | 515 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 515 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CHEK2 CL E G H | 11200 | 16627 | OMIM:114480 | Breast cancer | | | | 833 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 833 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | | | | 833 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CHEK2 CL E G H | 11200 | 16627 | OMIM:609265 | LI-FRAUMENI SYNDROME 2; LFS2 | | | | 833 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | | | | 68 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | | | | 165 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CKAP2L CL E G H | 150468 | 26877 | ORPHA:3255 | Filippi syndrome | | | | 7 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | | | | 52 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | | | | 64 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | COLEC10 CL E G H | 10584 | 2220 | ORPHA:293843 | 3MC syndrome | | | | 3 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | COLEC11 CL E G H | 78989 | 17213 | ORPHA:293843 | 3MC syndrome | | | | 9 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | COQ8A CL E G H | 56997 | 16812 | ORPHA:139485 | Autosomal recessive ataxia due to ubiquinone deficiency | | | | 136 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | COX7B CL E G H | 1349 | 2291 | OMIM:300887 | Linear skin defects with multiple congenital anomalies 2 | | | | 6 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:167000 | Ovarian cancer | | | | 88 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | | | | 38 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CYB5A CL E G H | 1528 | 2570 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | | | | 31 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | | | | 31 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | | | | 53 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CYP17A1 CL E G H | 1586 | 2593 | OMIM:202110 | Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency | | | | 53 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | | | | 53 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CYP19A1 CL E G H | 1588 | 2594 | OMIM:139300 | Aromatase excess syndrome | | | | 60 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | CYP21A2 CL E G H | 1589 | 2600 | OMIM:201910 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | | | | 86 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | | | | 36 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | DHODH CL E G H | 1723 | 2867 | ORPHA:246 | Postaxial acrofacial dysostosis | | | | 59 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | DHODH CL E G H | 1723 | 2867 | OMIM:263750 | Postaxial acrofacial dysostosis | | | | 59 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:608093 | Congenital disorder of glycosylation, type Ij | | | | 38 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | | | | 38 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | | | | 27 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | DUSP6 CL E G H | 1848 | 3072 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 4 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | | | | 4 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 4 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | | | | 134 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | | | | 115 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:614940 | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | | | | 56 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 56 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | EED CL E G H | 8726 | 3188 | OMIM:617561 | Cohen-Gibson syndrome | | | | 4 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | | | | 27 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | | | | 27 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ERBB2 CL E G H | 2064 | 3430 | OMIM:167000 | Ovarian cancer | | | | 77 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | | | | 199 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | | | | 36 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ESR1 CL E G H | 2099 | 3467 | OMIM:114480 | Breast cancer | | | | 13 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ESR1 CL E G H | 2099 | 3467 | ORPHA:785 | Estrogen resistance syndrome | | | | 13 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | FEZF1 CL E G H | 389549 | 22788 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | FGF17 CL E G H | 8822 | 3673 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 3 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | | | | 3 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | | | | 17 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 17 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:147950 | Hypogonadotropic hypogonadism 2 with or without anosmia | | | | 172 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | | | | 172 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 172 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | | | | 4 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:261483 | Xq27.3q28 duplication syndrome | | | | 30 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | | | | 353 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | | | | 353 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | | | | 263 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | | | | 23 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | FSHR CL E G H | 2492 | 3969 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 50 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 87 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | | | | 87 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | GDF11 CL E G H | 10220 | 4216 | OMIM:619122 | VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 173 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | GMNN CL E G H | 51053 | 17493 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 3 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | | | | 101 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | | | | 173 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | GNRH1 CL E G H | 2796 | 4419 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 15 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 15 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | GNRHR CL E G H | 2798 | 4421 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 92 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 92 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | 73 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | | | | 5 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | | | | 80 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | | | | 33 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | | | | 37 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:3459 | Wilson-Turner syndrome | | | | 37 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 21 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | | | | 21 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | | | | 38 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | HMMR CL E G H | 3161 | 5012 | OMIM:114480 | Breast cancer | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | HNRNPK CL E G H | 3190 | 5044 | OMIM:616580 | Au-Kline syndrome | | | | 8 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | | | | 8 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | | | | 8 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | | | | 55 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | | | | 8 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 8 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | HSD17B3 CL E G H | 3293 | 5212 | ORPHA:752 | 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency | | | | 31 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | HSD17B3 CL E G H | 3293 | 5212 | OMIM:264300 | Pseudohermaphroditism, male, with gynecomastia | | | | 31 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | | | | 34 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | IBA57 CL E G H | 200205 | 27302 | OMIM:615330 | Multiple mitochondrial dysfunctions syndrome 3 | | | | 16 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:163634 | Maffucci syndrome | | | | 15 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | IDH2 CL E G H | 3418 | 5383 | ORPHA:163634 | Maffucci syndrome | | | | 29 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | IGF1R CL E G H | 3480 | 5465 | ORPHA:73273 | Growth delay due to insulin-like growth factor I resistance | | | | 268 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | | | | 268 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | | | | 52 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | | | | 52 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | | | | 9 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | | | | 229 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | | | | 229 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ITGA3 CL E G H | 3675 | 6139 | OMIM:614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | | | | 6 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | | | | 10 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | | | | 11 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KCTD1 CL E G H | 284252 | 18249 | ORPHA:2036 | Scalp-ear-nipple syndrome | | | | 11 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KDM1A CL E G H | 23028 | 29079 | OMIM:616728 | Cleft palate, psychomotor retardation, and distinctive facial features | | | | 3 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | | | | 3 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:300867 | Kabuki syndrome 2 | | | | 53 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | | | | 9 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KISS1R CL E G H | 84634 | 4510 | OMIM:614837 | Hypogonadotropic hypogonadism 8 with or without anosmia | | | | 14 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 14 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KLLN CL E G H | 100144748 | 37212 | OMIM:615107 | Cowden syndrome 4 | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KMT2B CL E G H | 9757 | 15840 | OMIM:619934 | | | | | 11 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:114480 | Breast cancer | | | | 196 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 196 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | | | | 196 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:600268 | Oculoectodermal syndrome | | | | 196 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:609165 | Erythroderma, ichthyosiform, congenital reticular | | | | 45 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | LAS1L CL E G H | 81887 | 25726 | ORPHA:3459 | Wilson-Turner syndrome | | | | 8 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | LAS1L CL E G H | 81887 | 25726 | OMIM:309585 | WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS | | | | 8 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | LEP CL E G H | 3952 | 6553 | OMIM:614962 | Leptin deficiency or dysfunction | | | | 47 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | LHB CL E G H | 3972 | 6584 | OMIM:228300 | Hypogonadotropic hypogonadism 23 without anosmia | | | | 9 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 43 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | | | | 645 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | 645 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | | | | 43 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | | | | 21 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | | | | 93 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MAN1B1 CL E G H | 11253 | 6823 | OMIM:614202 | Rafiq syndrome | | | | 93 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 13 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | | | | 4 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MASP1 CL E G H | 5648 | 6901 | ORPHA:293843 | 3MC syndrome | | | | 21 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MASP1 CL E G H | 5648 | 6901 | OMIM:257920 | 3mc syndrome 1 | | | | 21 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MBD4 CL E G H | 8930 | 6919 | OMIM:619975 | | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MC1R CL E G H | 4157 | 6929 | ORPHA:618 | Familial melanoma | | | | 124 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MDH2 CL E G H | 4191 | 6971 | OMIM:617339 | Epileptic encephalopathy, early infantile, 51 | | | | 4 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | | | | 950 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:3243 | Sweet syndrome | | | | 281 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 462 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99725 | Pituitary gigantism | | | | 462 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | | | | 462 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | | | | 39 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MGMT CL E G H | 4255 | 7059 | ORPHA:618 | Familial melanoma | | | | 3 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MITF CL E G H | 4286 | 7105 | ORPHA:618 | Familial melanoma | | | | 91 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MLH1 CL E G H | 4292 | 7127 | ORPHA:587 | Muir-Torre syndrome | | | | 1819 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:158320 | Muir-Torre syndrome | | | | 1819 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MRE11 CL E G H | 4361 | 7230 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 532 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MRPS22 CL E G H | 56945 | 14508 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 25 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MSH2 CL E G H | 4436 | 7325 | ORPHA:587 | Muir-Torre syndrome | | | | 2162 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MSH2 CL E G H | 4436 | 7325 | OMIM:158320 | Muir-Torre syndrome | | | | 2162 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MSH6 CL E G H | 2956 | 7329 | ORPHA:587 | Muir-Torre syndrome | | | | 2232 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | MTX2 CL E G H | 10651 | 7506 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | NBN CL E G H | 4683 | 7652 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 706 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | | | | 4 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | | | | 1952 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:447980 | 19p13.3 microduplication syndrome | | | | 40 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | | | | 55 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | | | | 494 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | | | | 10 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | NQO2 CL E G H | 4835 | 7856 | OMIM:114480 | Breast cancer | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 48 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 38 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 38 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | | | | 102 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | NSMF CL E G H | 26012 | 29843 | OMIM:614838 | Hypogonadotropic hypogonadism 9 with or without anosmia | | | | 6 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | NTHL1 CL E G H | 4913 | 8028 | OMIM:616415 | Familial adenomatous polyposis 3 | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | NTHL1 CL E G H | 4913 | 8028 | ORPHA:454840 | NTHL1-related attenuated familial adenomatous polyposis | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 5 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | NUP188 CL E G H | 23511 | 17859 | OMIM:618804 | SANDESTIG-STEFANOVA SYNDROME; SANDSTEF | | | | 4 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | | | | 201 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | OPCML CL E G H | 4978 | 8143 | OMIM:167000 | Ovarian cancer | | | | 5 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ORC1 CL E G H | 4998 | 8487 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 53 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | | | | 53 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ORC4 CL E G H | 5000 | 8490 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 21 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ORC4 CL E G H | 5000 | 8490 | OMIM:613800 | Meier-Gorlin syndrome 2 | | | | 21 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ORC6 CL E G H | 23594 | 17151 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 39 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | | | | 39 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 41 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | | | | 24 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | | | | 24 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PALB2 CL E G H | 79728 | 26144 | OMIM:114480 | Breast cancer | | | | 1349 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 1349 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 1349 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 192 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 13 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PDE8B CL E G H | 8622 | 8794 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 75 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PEX3 CL E G H | 8504 | 8858 | OMIM:617370 | Peroxisome biogenesis disorder 10B | | | | 47 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 8 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 20 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PHB1 CL E G H | 5245 | 8912 | OMIM:114480 | Breast cancer | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PHF6 CL E G H | 84295 | 18145 | OMIM:301900 | Borjeson-Forssman-Lehmann syndrome | | | | 29 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PHF6 CL E G H | 84295 | 18145 | ORPHA:127 | Borjeson-Forssman-Lehmann syndrome | | | | 29 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 7 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | | | | 36 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 36 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | | | | 36 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | | | | 37 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 84 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | | | | 12 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | | | | 12 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 57 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 6 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:114480 | Breast cancer | | | | 162 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | | | | 162 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | | | | 162 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:167000 | Ovarian cancer | | | | 162 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | | | | 150 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | | | | 103 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | | | | 10 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | POLD1 CL E G H | 5424 | 9175 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | | | | 731 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | POLE CL E G H | 5426 | 9177 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | | | | 1129 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | POLR3H CL E G H | 171568 | 30349 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | POT1 CL E G H | 25913 | 17284 | ORPHA:618 | Familial melanoma | | | | 23 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 36 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PPM1D CL E G H | 8493 | 9277 | OMIM:114480 | Breast cancer | | | | 22 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | | | | 10 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 134 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PRKN CL E G H | 5071 | 8607 | OMIM:167000 | Ovarian cancer | | | | 138 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PRLR CL E G H | 5618 | 9446 | ORPHA:397685 | Familial hyperprolactinemia | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PRLR CL E G H | 5618 | 9446 | OMIM:615555 | HYPERPROLACTINEMIA | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PRLR CL E G H | 5618 | 9446 | OMIM:615554 | MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | | | | 9 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 9 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | | | | 34 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 54 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | | | | 54 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PSAT1 CL E G H | 29968 | 19129 | OMIM:616038 | Neu-Laxova syndrome 2 | | | | 27 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PSMC3IP CL E G H | 29893 | 17928 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:109 | Bannayan-Riley-Ruvalcaba syndrome | | | | 948 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | | | | 948 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | | | | 948 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 948 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:65285 | Lhermitte-Duclos disease | | | | 948 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:137608 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | | | | 948 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | | | | 291 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | PTPRF CL E G H | 5792 | 9670 | OMIM:616001 | Breasts and/or nipples, aplasia or hypoplasia of, 2 | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | | | | 85 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | | | | 25 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RAD50 CL E G H | 10111 | 9816 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 789 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RAD51 CL E G H | 5888 | 9817 | OMIM:114480 | Breast cancer | | | | 9 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 9 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RAD51C CL E G H | 5889 | 9820 | OMIM:613399 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3; BROVCA3 | | | | 391 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 391 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RAD51D CL E G H | 5892 | 9823 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 345 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RAD54L CL E G H | 8438 | 9826 | OMIM:114480 | Breast cancer | | | | 5 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | | | | 212 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | | | | 3 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RB1CC1 CL E G H | 9821 | 15574 | OMIM:114480 | Breast cancer | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RBM28 CL E G H | 55131 | 21863 | OMIM:612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RELA CL E G H | 5970 | 9955 | ORPHA:251636 | Ependymoma | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | | | | 3 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RFT1 CL E G H | 91869 | 30220 | OMIM:612015 | Congenital disorder of glycosylation, type IN | | | | 92 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RFT1 CL E G H | 91869 | 30220 | ORPHA:244310 | RFT1-CDG | | | | 92 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | | | | 39 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RNF216 CL E G H | 54476 | 21698 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | | | | 10 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RNF43 CL E G H | 54894 | 18505 | ORPHA:157798 | Serrated polyposis syndrome | | | | 5 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RSPO1 CL E G H | 284654 | 21679 | OMIM:610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal | | | | 3 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618021 | Tetraamelia syndrome 2 | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RSPO2 CL E G H | 340419 | 28583 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | | | | 237 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | | | | 147 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | | | | 129 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | | | | 60 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SEC23B CL E G H | 10483 | 10702 | OMIM:616858 | Cowden syndrome 7 | | | | 60 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | | | | 14 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SEMA3E CL E G H | 9723 | 10727 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 16 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SET CL E G H | 6418 | 10760 | OMIM:618106 | Mental retardation, autosomal dominant 58 | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SH3PXD2B CL E G H | 285590 | 29242 | ORPHA:137834 | Frank-Ter Haar syndrome | | | | 134 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SLC22A18 CL E G H | 5002 | 10964 | OMIM:114480 | Breast cancer | | | | 3 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | | | | 14 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | | | | 68 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | | | | 27 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SLC6A17 CL E G H | 388662 | 31399 | ORPHA:457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | | | | 12 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | | | | 13 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 504 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:3051 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | | | | 135 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | | | | 91 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | | | | 174 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | | | | 19 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | | | | 19 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | | | | 315 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | | | | 30 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | | | | 61 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | | | | 24 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SOX6 CL E G H | 55553 | 16421 | OMIM:618971 | TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 109 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SPIDR CL E G H | 23514 | 28971 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SPRY4 CL E G H | 81848 | 15533 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 5 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | | | | 5 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 5 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SRA1 CL E G H | 10011 | 11281 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612379 | Congenital disorder of glycosylation, type IQ | | | | 80 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | | | | 23 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 23 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | SRY CL E G H | 6736 | 11311 | OMIM:400045 | 46XX sex reversal 1 | | | | 23 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | STAG1 CL E G H | 10274 | 11354 | OMIM:617635 | Mental retardation, autosomal dominant 47 | | | | 9 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | STK11 CL E G H | 6794 | 11389 | OMIM:175200 | Peutz-Jeghers syndrome | | | | 740 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | | | | 740 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | STT3A CL E G H | 3703 | 6172 | OMIM:619714 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD | | | | 21 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | | | | 34 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | | | | 22 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | | | | 22 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | | | | 100 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TCF20 CL E G H | 6942 | 11631 | OMIM:618430 | Developmental delay with variable intellectual impairment and behavioral abnormalities | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TERF2IP CL E G H | 54386 | 19246 | ORPHA:618 | Familial melanoma | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:618 | Familial melanoma | | | | 238 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | | | | 104 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TNRC6B CL E G H | 23112 | 29190 | OMIM:619243 | GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:114480 | Breast cancer | | | | 911 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 911 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 911 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:151623 | Li-Fraumeni syndrome | | | | 911 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | | | | 911 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:978 | ADULT syndrome | | | | 140 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | | | | 140 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | | | | 140 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | | | | 140 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | | | | 140 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | | | | 140 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:603543 | Limb-Mammary syndrome | | | | 140 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TRAF7 CL E G H | 84231 | 20456 | OMIM:618164 | Cardiac, facial, and digital anomalies with developmental delay | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TTC5 CL E G H | 91875 | 19274 | OMIM:619244 | NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | | | | 14 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | | | | 7 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | | | | 7 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1231 | Barber-Say syndrome | | | | 7 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | | | | 7 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | UBA2 CL E G H | 10054 | 30661 | OMIM:619959 | | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | | | | 25 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | | | | 27 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | | | | 27 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | | | | 20 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | | | | 20 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | WASF1 CL E G H | 8936 | 12732 | OMIM:618707 | NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | | | | 83 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | WDR11 CL E G H | 55717 | 13831 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 10 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | | | | 10 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 10 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | | | | 95 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | WDR37 CL E G H | 22884 | 31406 | OMIM:618652 | NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | WNT3 CL E G H | 7473 | 12782 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | | | | 12 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | | | | 13 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | | | | 310 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 177 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 149 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | XRCC3 CL E G H | 7517 | 12830 | OMIM:114480 | Breast cancer | | | | 2 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | | | | 7 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ZBTB20 CL E G H | 26137 | 13503 | ORPHA:3042 | Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | | | | 17 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | | | | 362 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 31 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ZFTA CL E G H | 65998 | 28449 | ORPHA:251636 | Ependymoma | | | | | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ZMYND11 CL E G H | 10771 | 16966 | OMIM:616083 | Mental retardation, autosomal dominant 30 | | | | 24 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ZNF148 CL E G H | 7707 | 12933 | OMIM:617260 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | | | | 4 | | |
HP:0000769 | HP:0000769 | Abnormality of the breast | 0 | ZSWIM7 CL E G H | 125150 | 26993 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | | | | 7 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | | | | 53 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ACD CL E G H | 65057 | 25070 | ORPHA:618 | Familial melanoma | | | | 11 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | | | | 120 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ACTB CL E G H | 60 | 132 | ORPHA:64755 | Becker nevus syndrome | | | | 72 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | | | | 6 | | |
HP:0000769 | HP:0031094 | Abnormal breast physiology | 1 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | | | | 95 | | |
HP:0000769 | HP:0031094 | Abnormal breast physiology | 1 | AIP CL E G H | 9049 | 358 | OMIM:102200 | Pituitary adenoma, growth hormone-secreting, 1 | | | | 95 | | |
HP:0000769 | HP:0031094 | Abnormal breast physiology | 1 | AIP CL E G H | 9049 | 358 | ORPHA:99725 | Pituitary gigantism | | | | 95 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | | | | 95 | | |
HP:0000769 | HP:0031094 | Abnormal breast physiology | 1 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | | | | 95 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | AKT1 CL E G H | 207 | 391 | OMIM:114480 | Breast cancer | | | | 54 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | | | | 54 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | | | | 54 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | AKT1 CL E G H | 207 | 391 | OMIM:167000 | Ovarian cancer | | | | 54 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | AKT2 CL E G H | 208 | 392 | ORPHA:293964 | Hypoinsulinemic hypoglycemia and body hemihypertrophy | | | | 12 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | AKT2 CL E G H | 208 | 392 | OMIM:240900 | Hypoinsulinemic hypoglycemia with hemihypertrophy | | | | 12 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ALG11 CL E G H | 440138 | 32456 | ORPHA:280071 | ALG11-CDG | | | | 41 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ALG11 CL E G H | 440138 | 32456 | OMIM:613661 | Congenital disorder of glycosylation, type Ip | | | | 41 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | | | | 68 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ALG14 CL E G H | 199857 | 28287 | OMIM:619036 | MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA | | | | 12 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | | | | 37 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | | | | 46 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | | | | 93 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | | | | 93 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | | | | 404 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | | | | 34 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | | | | 65 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | | | | 65 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | | | | 8 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | | | | 3179 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | APC CL E G H | 324 | 583 | OMIM:135290 | Desmoid disease, hereditary | | | | 3179 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | | | | 3179 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | AR CL E G H | 367 | 644 | OMIM:300068 | Androgen insensitivity syndrome | | | | 125 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | AR CL E G H | 367 | 644 | ORPHA:481 | Kennedy disease | | | | 125 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | AR CL E G H | 367 | 644 | ORPHA:90797 | Partial androgen insensitivity syndrome | | | | 125 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | AR CL E G H | 367 | 644 | OMIM:312300 | Reifenstein syndrome | | | | 125 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | AR CL E G H | 367 | 644 | OMIM:313200 | Spinal and bulbar muscular atrophy, X-linked 1 | | | | 125 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | | | | 3 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | | | | 147 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ATM CL E G H | 472 | 795 | OMIM:114480 | Breast cancer | | | | 3267 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | | | | 16 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ATR CL E G H | 545 | 882 | OMIM:614564 | Cutaneous telangiectasia and cancer syndrome, familial | | | | 168 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | AXIN2 CL E G H | 8313 | 904 | OMIM:608615 | OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS | | | | 435 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | AXL CL E G H | 558 | 905 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | | | | 36 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | | | | 36 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:618 | Familial melanoma | | | | 184 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | BARD1 CL E G H | 580 | 952 | OMIM:114480 | Breast cancer | | | | 790 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | BARD1 CL E G H | 580 | 952 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 790 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | BMP15 CL E G H | 9210 | 1068 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 16 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | BNC1 CL E G H | 646 | 1081 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | BRCA1 CL E G H | 672 | 1100 | OMIM:114480 | Breast cancer | | | | 5769 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | BRCA1 CL E G H | 672 | 1100 | OMIM:604370 | Breast-Ovarian cancer, familial, susceptibility to, 1 | | | | 5769 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 5769 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | BRCA1 CL E G H | 672 | 1100 | OMIM:617883 | Fanconi anemia, complementation group S | | | | 5769 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | BRCA1 CL E G H | 672 | 1100 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 5769 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | BRCA2 CL E G H | 675 | 1101 | OMIM:114480 | Breast cancer | | | | 7642 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | BRCA2 CL E G H | 675 | 1101 | OMIM:612555 | Breast-Ovarian cancer, familial, susceptibility to, 2 | | | | 7642 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 7642 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | BRCA2 CL E G H | 675 | 1101 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 7642 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | BRIP1 CL E G H | 83990 | 20473 | OMIM:114480 | Breast cancer | | | | 1086 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 1086 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | C18ORF32 CL E G H | 497661 | 31690 | OMIM:619985 | | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CASP8 CL E G H | 841 | 1509 | OMIM:114480 | Breast cancer | | | | 37 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | | | | 317 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | | | | 317 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CCDC141 CL E G H | 285025 | 26821 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | | | | 33 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CDC45 CL E G H | 8318 | 1739 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 9 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CDC45 CL E G H | 8318 | 1739 | OMIM:617063 | Meier-Gorlin syndrome 7 | | | | 9 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CDC6 CL E G H | 990 | 1744 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 31 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CDH1 CL E G H | 999 | 1748 | OMIM:114480 | Breast cancer | | | | 1003 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CDH1 CL E G H | 999 | 1748 | OMIM:167000 | Ovarian cancer | | | | 1003 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | | | | 636 | | |
HP:0000769 | HP:0031094 | Abnormal breast physiology | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | | | | 636 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | | | | 636 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CDK4 CL E G H | 1019 | 1773 | ORPHA:618 | Familial melanoma | | | | 145 | | |
HP:0000769 | HP:0031094 | Abnormal breast physiology | 1 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 2 | | |
HP:0000769 | HP:0031094 | Abnormal breast physiology | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 102 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:618 | Familial melanoma | | | | 289 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 289 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | | | | 289 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:618 | Familial melanoma | | | | 1 | | |
HP:0000769 | HP:0031094 | Abnormal breast physiology | 1 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 1 | | |
HP:0000769 | HP:0031094 | Abnormal breast physiology | 1 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CDT1 CL E G H | 81620 | 24576 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 50 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CDT1 CL E G H | 81620 | 24576 | OMIM:613804 | Meier-Gorlin syndrome 4 | | | | 50 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CERT1 CL E G H | 10087 | 2205 | OMIM:616351 | Mental retardation, autosomal dominant 34 | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | | | | 16 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | | | | 515 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 515 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CHEK2 CL E G H | 11200 | 16627 | OMIM:114480 | Breast cancer | | | | 833 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 833 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | | | | 833 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CHEK2 CL E G H | 11200 | 16627 | OMIM:609265 | LI-FRAUMENI SYNDROME 2; LFS2 | | | | 833 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | | | | 68 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | | | | 165 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CKAP2L CL E G H | 150468 | 26877 | ORPHA:3255 | Filippi syndrome | | | | 7 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | | | | 52 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | | | | 64 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | COLEC10 CL E G H | 10584 | 2220 | ORPHA:293843 | 3MC syndrome | | | | 3 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | COLEC11 CL E G H | 78989 | 17213 | ORPHA:293843 | 3MC syndrome | | | | 9 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | COQ8A CL E G H | 56997 | 16812 | ORPHA:139485 | Autosomal recessive ataxia due to ubiquinone deficiency | | | | 136 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | COX7B CL E G H | 1349 | 2291 | OMIM:300887 | Linear skin defects with multiple congenital anomalies 2 | | | | 6 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:167000 | Ovarian cancer | | | | 88 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | | | | 38 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CYB5A CL E G H | 1528 | 2570 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | | | | 31 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | | | | 31 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | | | | 53 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CYP17A1 CL E G H | 1586 | 2593 | OMIM:202110 | Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency | | | | 53 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | | | | 53 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CYP19A1 CL E G H | 1588 | 2594 | OMIM:139300 | Aromatase excess syndrome | | | | 60 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | CYP21A2 CL E G H | 1589 | 2600 | OMIM:201910 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | | | | 86 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | | | | 36 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | DHODH CL E G H | 1723 | 2867 | OMIM:263750 | Postaxial acrofacial dysostosis | | | | 59 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | DHODH CL E G H | 1723 | 2867 | ORPHA:246 | Postaxial acrofacial dysostosis | | | | 59 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:608093 | Congenital disorder of glycosylation, type Ij | | | | 38 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | | | | 38 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | | | | 27 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | DUSP6 CL E G H | 1848 | 3072 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 4 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | | | | 4 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 4 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | | | | 134 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | | | | 115 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | EDARADD CL E G H | 128178 | 14341 | OMIM:614940 | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | | | | 56 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 56 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | EED CL E G H | 8726 | 3188 | OMIM:617561 | Cohen-Gibson syndrome | | | | 4 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | | | | 27 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | | | | 27 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ERBB2 CL E G H | 2064 | 3430 | OMIM:167000 | Ovarian cancer | | | | 77 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | | | | 199 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | | | | 36 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ESR1 CL E G H | 2099 | 3467 | OMIM:114480 | Breast cancer | | | | 13 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ESR1 CL E G H | 2099 | 3467 | ORPHA:785 | Estrogen resistance syndrome | | | | 13 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | FEZF1 CL E G H | 389549 | 22788 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | FGF17 CL E G H | 8822 | 3673 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 3 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | | | | 3 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | | | | 17 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 17 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:147950 | Hypogonadotropic hypogonadism 2 with or without anosmia | | | | 172 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | | | | 172 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 172 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | | | | 4 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | FMR1 CL E G H | 2332 | 3775 | ORPHA:261483 | Xq27.3q28 duplication syndrome | | | | 30 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | | | | 353 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | | | | 353 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | | | | 263 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | | | | 23 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | FSHR CL E G H | 2492 | 3969 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 50 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 87 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | | | | 87 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | GDF11 CL E G H | 10220 | 4216 | OMIM:619122 | VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 173 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | GMNN CL E G H | 51053 | 17493 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 3 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | | | | 101 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | | | | 173 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | GNRH1 CL E G H | 2796 | 4419 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 15 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 15 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | GNRHR CL E G H | 2798 | 4421 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 92 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 92 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | 73 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0000769 | HP:0031094 | Abnormal breast physiology | 1 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | | | | 5 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | | | | 80 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | | | | 33 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | | | | 37 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:3459 | Wilson-Turner syndrome | | | | 37 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 21 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | | | | 21 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | | | | 38 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | HMMR CL E G H | 3161 | 5012 | OMIM:114480 | Breast cancer | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | HNRNPK CL E G H | 3190 | 5044 | OMIM:616580 | Au-Kline syndrome | | | | 8 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | | | | 8 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | | | | 8 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | | | | 55 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | | | | 8 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 8 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | HSD17B3 CL E G H | 3293 | 5212 | ORPHA:752 | 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency | | | | 31 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | HSD17B3 CL E G H | 3293 | 5212 | OMIM:264300 | Pseudohermaphroditism, male, with gynecomastia | | | | 31 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | | | | 34 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | IBA57 CL E G H | 200205 | 27302 | OMIM:615330 | Multiple mitochondrial dysfunctions syndrome 3 | | | | 16 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | IDH1 CL E G H | 3417 | 5382 | ORPHA:163634 | Maffucci syndrome | | | | 15 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | IDH2 CL E G H | 3418 | 5383 | ORPHA:163634 | Maffucci syndrome | | | | 29 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | IGF1R CL E G H | 3480 | 5465 | ORPHA:73273 | Growth delay due to insulin-like growth factor I resistance | | | | 268 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | | | | 268 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | | | | 52 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | | | | 52 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | | | | 9 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | | | | 229 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | | | | 229 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | | | | | | |
HP:0000769 | HP:0031094 | Abnormal breast physiology | 1 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ITGA3 CL E G H | 3675 | 6139 | OMIM:614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | | | | 6 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | | | | 10 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KCTD1 CL E G H | 284252 | 18249 | ORPHA:2036 | Scalp-ear-nipple syndrome | | | | 11 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | | | | 11 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KDM1A CL E G H | 23028 | 29079 | OMIM:616728 | Cleft palate, psychomotor retardation, and distinctive facial features | | | | 3 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | | | | 3 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KDM6A CL E G H | 7403 | 12637 | OMIM:300867 | Kabuki syndrome 2 | | | | 53 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | | | | 9 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KISS1R CL E G H | 84634 | 4510 | OMIM:614837 | Hypogonadotropic hypogonadism 8 with or without anosmia | | | | 14 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 14 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KLLN CL E G H | 100144748 | 37212 | OMIM:615107 | Cowden syndrome 4 | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KMT2B CL E G H | 9757 | 15840 | OMIM:619934 | | | | | 11 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:114480 | Breast cancer | | | | 196 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 196 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | | | | 196 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:600268 | Oculoectodermal syndrome | | | | 196 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | KRT10 CL E G H | 3858 | 6413 | OMIM:609165 | Erythroderma, ichthyosiform, congenital reticular | | | | 45 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | LAS1L CL E G H | 81887 | 25726 | ORPHA:3459 | Wilson-Turner syndrome | | | | 8 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | LAS1L CL E G H | 81887 | 25726 | OMIM:309585 | WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS | | | | 8 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | LEP CL E G H | 3952 | 6553 | OMIM:614962 | Leptin deficiency or dysfunction | | | | 47 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | LHB CL E G H | 3972 | 6584 | OMIM:228300 | Hypogonadotropic hypogonadism 23 without anosmia | | | | 9 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 43 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | | | | 645 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | 645 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | | | | 43 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | | | | 21 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | | | | 93 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MAN1B1 CL E G H | 11253 | 6823 | OMIM:614202 | Rafiq syndrome | | | | 93 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 13 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | | | | 4 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MASP1 CL E G H | 5648 | 6901 | ORPHA:293843 | 3MC syndrome | | | | 21 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MASP1 CL E G H | 5648 | 6901 | OMIM:257920 | 3mc syndrome 1 | | | | 21 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MBD4 CL E G H | 8930 | 6919 | OMIM:619975 | | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MC1R CL E G H | 4157 | 6929 | ORPHA:618 | Familial melanoma | | | | 124 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MDH2 CL E G H | 4191 | 6971 | OMIM:617339 | Epileptic encephalopathy, early infantile, 51 | | | | 4 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | | | | 950 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MEFV CL E G H | 4210 | 6998 | ORPHA:3243 | Sweet syndrome | | | | 281 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0000769 | HP:0031094 | Abnormal breast physiology | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 462 | | |
HP:0000769 | HP:0031094 | Abnormal breast physiology | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99725 | Pituitary gigantism | | | | 462 | | |
HP:0000769 | HP:0031094 | Abnormal breast physiology | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | | | | 462 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | | | | 462 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | | | | 39 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MGMT CL E G H | 4255 | 7059 | ORPHA:618 | Familial melanoma | | | | 3 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MITF CL E G H | 4286 | 7105 | ORPHA:618 | Familial melanoma | | | | 91 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MLH1 CL E G H | 4292 | 7127 | OMIM:158320 | Muir-Torre syndrome | | | | 1819 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MLH1 CL E G H | 4292 | 7127 | ORPHA:587 | Muir-Torre syndrome | | | | 1819 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MRE11 CL E G H | 4361 | 7230 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 532 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MRPS22 CL E G H | 56945 | 14508 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 25 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MSH2 CL E G H | 4436 | 7325 | ORPHA:587 | Muir-Torre syndrome | | | | 2162 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MSH2 CL E G H | 4436 | 7325 | OMIM:158320 | Muir-Torre syndrome | | | | 2162 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MSH6 CL E G H | 2956 | 7329 | ORPHA:587 | Muir-Torre syndrome | | | | 2232 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | MTX2 CL E G H | 10651 | 7506 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | NBN CL E G H | 4683 | 7652 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 706 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | | | | 4 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | | | | 1952 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | NFIX CL E G H | 4784 | 7788 | ORPHA:447980 | 19p13.3 microduplication syndrome | | | | 40 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | | | | 55 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | | | | 494 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | | | | 10 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | NQO2 CL E G H | 4835 | 7856 | OMIM:114480 | Breast cancer | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 48 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 38 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 38 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | | | | 102 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | NSMF CL E G H | 26012 | 29843 | OMIM:614838 | Hypogonadotropic hypogonadism 9 with or without anosmia | | | | 6 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | NTHL1 CL E G H | 4913 | 8028 | OMIM:616415 | Familial adenomatous polyposis 3 | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | NTHL1 CL E G H | 4913 | 8028 | ORPHA:454840 | NTHL1-related attenuated familial adenomatous polyposis | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | NUP107 CL E G H | 57122 | 29914 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 5 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | NUP188 CL E G H | 23511 | 17859 | OMIM:618804 | SANDESTIG-STEFANOVA SYNDROME; SANDSTEF | | | | 4 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | | | | 201 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | OPCML CL E G H | 4978 | 8143 | OMIM:167000 | Ovarian cancer | | | | 5 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ORC1 CL E G H | 4998 | 8487 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 53 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | | | | 53 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ORC4 CL E G H | 5000 | 8490 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 21 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ORC4 CL E G H | 5000 | 8490 | OMIM:613800 | Meier-Gorlin syndrome 2 | | | | 21 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ORC6 CL E G H | 23594 | 17151 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 39 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | | | | 39 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 41 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | | | | 24 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | | | | 24 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PALB2 CL E G H | 79728 | 26144 | OMIM:114480 | Breast cancer | | | | 1349 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 1349 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PALB2 CL E G H | 79728 | 26144 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 1349 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 192 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PDE11A CL E G H | 50940 | 8773 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 13 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PDE8B CL E G H | 8622 | 8794 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 75 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PEX3 CL E G H | 8504 | 8858 | OMIM:617370 | Peroxisome biogenesis disorder 10B | | | | 47 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 8 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 20 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PHB1 CL E G H | 5245 | 8912 | OMIM:114480 | Breast cancer | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PHF6 CL E G H | 84295 | 18145 | OMIM:301900 | Borjeson-Forssman-Lehmann syndrome | | | | 29 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PHF6 CL E G H | 84295 | 18145 | ORPHA:127 | Borjeson-Forssman-Lehmann syndrome | | | | 29 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 7 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | | | | 36 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 36 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | | | | 36 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | | | | 37 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 84 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | | | | 12 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | | | | 12 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 57 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 6 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PIK3CA CL E G H | 5290 | 8975 | OMIM:114480 | Breast cancer | | | | 162 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | | | | 162 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | | | | 162 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PIK3CA CL E G H | 5290 | 8975 | OMIM:167000 | Ovarian cancer | | | | 162 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | | | | 150 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | | | | 103 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | | | | 10 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | POLD1 CL E G H | 5424 | 9175 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | | | | 731 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | POLE CL E G H | 5426 | 9177 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | | | | 1129 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | POLR3H CL E G H | 171568 | 30349 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | POT1 CL E G H | 25913 | 17284 | ORPHA:618 | Familial melanoma | | | | 23 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 36 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PPM1D CL E G H | 8493 | 9277 | OMIM:114480 | Breast cancer | | | | 22 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | | | | 10 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PRKACA CL E G H | 5566 | 9380 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 134 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PRKN CL E G H | 5071 | 8607 | OMIM:167000 | Ovarian cancer | | | | 138 | | |
HP:0000769 | HP:0031094 | Abnormal breast physiology | 1 | PRLR CL E G H | 5618 | 9446 | ORPHA:397685 | Familial hyperprolactinemia | | | | 2 | | |
HP:0000769 | HP:0031094 | Abnormal breast physiology | 1 | PRLR CL E G H | 5618 | 9446 | OMIM:615555 | HYPERPROLACTINEMIA | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PRLR CL E G H | 5618 | 9446 | OMIM:615554 | MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | | | | 9 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 9 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | | | | 34 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 54 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | | | | 54 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PSAT1 CL E G H | 29968 | 19129 | OMIM:616038 | Neu-Laxova syndrome 2 | | | | 27 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PSMC3IP CL E G H | 29893 | 17928 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:109 | Bannayan-Riley-Ruvalcaba syndrome | | | | 948 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | | | | 948 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | | | | 948 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 948 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:65285 | Lhermitte-Duclos disease | | | | 948 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:137608 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | | | | 948 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | | | | 291 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | PTPRF CL E G H | 5792 | 9670 | OMIM:616001 | Breasts and/or nipples, aplasia or hypoplasia of, 2 | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | | | | 85 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | | | | 25 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RAD50 CL E G H | 10111 | 9816 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 789 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RAD51 CL E G H | 5888 | 9817 | OMIM:114480 | Breast cancer | | | | 9 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RAD51 CL E G H | 5888 | 9817 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 9 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RAD51C CL E G H | 5889 | 9820 | OMIM:613399 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3; BROVCA3 | | | | 391 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RAD51C CL E G H | 5889 | 9820 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 391 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RAD51D CL E G H | 5892 | 9823 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 345 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RAD54L CL E G H | 8438 | 9826 | OMIM:114480 | Breast cancer | | | | 5 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | | | | 212 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | | | | 3 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RB1CC1 CL E G H | 9821 | 15574 | OMIM:114480 | Breast cancer | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RBM28 CL E G H | 55131 | 21863 | OMIM:612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RELA CL E G H | 5970 | 9955 | ORPHA:251636 | Ependymoma | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | | | | 3 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RFT1 CL E G H | 91869 | 30220 | OMIM:612015 | Congenital disorder of glycosylation, type IN | | | | 92 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RFT1 CL E G H | 91869 | 30220 | ORPHA:244310 | RFT1-CDG | | | | 92 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | | | | 39 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RNF216 CL E G H | 54476 | 21698 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | | | | 10 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RNF43 CL E G H | 54894 | 18505 | ORPHA:157798 | Serrated polyposis syndrome | | | | 5 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RSPO1 CL E G H | 284654 | 21679 | OMIM:610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal | | | | 3 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618021 | Tetraamelia syndrome 2 | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RSPO2 CL E G H | 340419 | 28583 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | | | | 237 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | | | | 147 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | | | | 129 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | | | | 60 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SEC23B CL E G H | 10483 | 10702 | OMIM:616858 | Cowden syndrome 7 | | | | 60 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | | | | 14 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SEMA3E CL E G H | 9723 | 10727 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 16 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SET CL E G H | 6418 | 10760 | OMIM:618106 | Mental retardation, autosomal dominant 58 | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SH3PXD2B CL E G H | 285590 | 29242 | ORPHA:137834 | Frank-Ter Haar syndrome | | | | 134 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SLC22A18 CL E G H | 5002 | 10964 | OMIM:114480 | Breast cancer | | | | 3 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | | | | 14 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | | | | 68 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | | | | 27 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SLC6A17 CL E G H | 388662 | 31399 | ORPHA:457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | | | | 12 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | | | | 13 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 504 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:3051 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | | | | 135 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | | | | 91 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | | | | 174 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | | | | 19 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | | | | 19 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | | | | 315 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | | | | 30 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | | | | 61 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | | | | 24 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SOX6 CL E G H | 55553 | 16421 | OMIM:618971 | TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 109 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SPIDR CL E G H | 23514 | 28971 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SPRY4 CL E G H | 81848 | 15533 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 5 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | | | | 5 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 5 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SRA1 CL E G H | 10011 | 11281 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612379 | Congenital disorder of glycosylation, type IQ | | | | 80 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | | | | 23 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 23 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | SRY CL E G H | 6736 | 11311 | OMIM:400045 | 46XX sex reversal 1 | | | | 23 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | STAG1 CL E G H | 10274 | 11354 | OMIM:617635 | Mental retardation, autosomal dominant 47 | | | | 9 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | | | | 740 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | STK11 CL E G H | 6794 | 11389 | OMIM:175200 | Peutz-Jeghers syndrome | | | | 740 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | STT3A CL E G H | 3703 | 6172 | OMIM:619714 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD | | | | 21 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | | | | 34 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | | | | 22 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | | | | 22 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | | | | 100 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TCF20 CL E G H | 6942 | 11631 | OMIM:618430 | Developmental delay with variable intellectual impairment and behavioral abnormalities | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TERF2IP CL E G H | 54386 | 19246 | ORPHA:618 | Familial melanoma | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:618 | Familial melanoma | | | | 238 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | | | | 104 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TNRC6B CL E G H | 23112 | 29190 | OMIM:619243 | GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TP53 CL E G H | 7157 | 11998 | OMIM:114480 | Breast cancer | | | | 911 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 911 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 911 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | | | | 911 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TP53 CL E G H | 7157 | 11998 | OMIM:151623 | Li-Fraumeni syndrome | | | | 911 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:978 | ADULT syndrome | | | | 140 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | | | | 140 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | | | | 140 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | | | | 140 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | | | | 140 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | | | | 140 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:603543 | Limb-Mammary syndrome | | | | 140 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TRAF7 CL E G H | 84231 | 20456 | OMIM:618164 | Cardiac, facial, and digital anomalies with developmental delay | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TTC5 CL E G H | 91875 | 19274 | OMIM:619244 | NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | | | | 14 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | | | | 7 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | | | | 7 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1231 | Barber-Say syndrome | | | | 7 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | | | | 7 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | UBA2 CL E G H | 10054 | 30661 | OMIM:619959 | | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | | | | 25 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | | | | 27 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | | | | 27 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | | | | 20 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | | | | 20 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | WASF1 CL E G H | 8936 | 12732 | OMIM:618707 | NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | | | | 83 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | WDR11 CL E G H | 55717 | 13831 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 10 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | | | | 10 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 10 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | | | | 95 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | WDR37 CL E G H | 22884 | 31406 | OMIM:618652 | NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | WNT3 CL E G H | 7473 | 12782 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | | | | 12 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | | | | 13 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | | | | 310 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 177 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 149 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | XRCC3 CL E G H | 7517 | 12830 | OMIM:114480 | Breast cancer | | | | 2 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | | | | 7 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ZBTB20 CL E G H | 26137 | 13503 | ORPHA:3042 | Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | | | | 17 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | | | | 362 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 31 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ZFTA CL E G H | 65998 | 28449 | ORPHA:251636 | Ependymoma | | | | | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ZMYND11 CL E G H | 10771 | 16966 | OMIM:616083 | Mental retardation, autosomal dominant 30 | | | | 24 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ZNF148 CL E G H | 7707 | 12933 | OMIM:617260 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | | | | 4 | | |
HP:0000769 | HP:0031093 | Abnormal breast morphology | 1 | ZSWIM7 CL E G H | 125150 | 26993 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | | | |
HP:0000769 | HP:0010313 | Breast hypertrophy | 2 | CL E G H | | | | | | | | | | |
HP:0000769 | HP:0010312 | Asymmetry of the breasts | 2 | CL E G H | | | | | | | | | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | | | | 7 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | | | | 53 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | ACD CL E G H | 65057 | 25070 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 11 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | | | | 120 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | ACTB CL E G H | 60 | 132 | ORPHA:64755 | Becker nevus syndrome | HP:0040282 - Frequent | | | 72 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ACTB CL E G H | 60 | 132 | ORPHA:64755 | Becker nevus syndrome | | | | 72 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000769 | HP:0100829 | Galactorrhea | 2 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040283 - Occasional | | | 95 | | |
HP:0000769 | HP:0100829 | Galactorrhea | 2 | AIP CL E G H | 9049 | 358 | OMIM:102200 | Pituitary adenoma, growth hormone-secreting, 1 | . | | | 95 | | |
HP:0000769 | HP:0100829 | Galactorrhea | 2 | AIP CL E G H | 9049 | 358 | ORPHA:99725 | Pituitary gigantism | HP:0040283 - Occasional | | | 95 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 95 | | |
HP:0000769 | HP:0100829 | Galactorrhea | 2 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 95 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | AKT1 CL E G H | 207 | 391 | OMIM:114480 | Breast cancer | | | | 54 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | | | | 54 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | . | | | 54 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | | | | 54 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | AKT1 CL E G H | 207 | 391 | OMIM:167000 | Ovarian cancer | | | | 54 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | AKT2 CL E G H | 208 | 392 | ORPHA:293964 | Hypoinsulinemic hypoglycemia and body hemihypertrophy | HP:0040281 - Very frequent | | | 12 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | AKT2 CL E G H | 208 | 392 | OMIM:240900 | Hypoinsulinemic hypoglycemia with hemihypertrophy | . | | | 12 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ALG11 CL E G H | 440138 | 32456 | ORPHA:280071 | ALG11-CDG | | | | 41 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ALG11 CL E G H | 440138 | 32456 | OMIM:613661 | Congenital disorder of glycosylation, type Ip | | | | 41 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | | | | 68 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ALG14 CL E G H | 199857 | 28287 | OMIM:619036 | MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA | | | | 12 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | | | | 37 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | | | | 46 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | | | | 93 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | | | | 93 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | | | | 34 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | . | | | 65 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | | | | 65 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | | | | 8 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | | | | 8 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | | | | 3179 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | APC CL E G H | 324 | 583 | OMIM:135290 | Desmoid disease, hereditary | | | | 3179 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | | | | 3179 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | AR CL E G H | 367 | 644 | OMIM:300068 | Androgen insensitivity syndrome | . | | | 125 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | AR CL E G H | 367 | 644 | ORPHA:481 | Kennedy disease | HP:0040281 - Very frequent | | | 125 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | AR CL E G H | 367 | 644 | ORPHA:90797 | Partial androgen insensitivity syndrome | HP:0040282 - Frequent | | | 125 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | AR CL E G H | 367 | 644 | OMIM:312300 | Reifenstein syndrome | | | | 125 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | AR CL E G H | 367 | 644 | OMIM:313200 | Spinal and bulbar muscular atrophy, X-linked 1 | . | | | 125 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | | | | 3 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | | | | 147 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | | | | 1 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | ATM CL E G H | 472 | 795 | OMIM:114480 | Breast cancer | | | | 3267 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | | | | 16 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | ATR CL E G H | 545 | 882 | OMIM:614564 | Cutaneous telangiectasia and cancer syndrome, familial | | | | 168 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | AXIN2 CL E G H | 8313 | 904 | OMIM:608615 | OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS | | | | 435 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | AXL CL E G H | 558 | 905 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | | | | 36 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | | | | 36 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | BAP1 CL E G H | 8314 | 950 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 184 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | BARD1 CL E G H | 580 | 952 | OMIM:114480 | Breast cancer | | | | 790 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | BARD1 CL E G H | 580 | 952 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 790 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040283 - Occasional | | | 314 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | BMP15 CL E G H | 9210 | 1068 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 16 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | BNC1 CL E G H | 646 | 1081 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | BRCA1 CL E G H | 672 | 1100 | OMIM:114480 | Breast cancer | | | | 5769 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | BRCA1 CL E G H | 672 | 1100 | OMIM:604370 | Breast-Ovarian cancer, familial, susceptibility to, 1 | | | | 5769 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 5769 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | BRCA1 CL E G H | 672 | 1100 | OMIM:617883 | Fanconi anemia, complementation group S | | | | 5769 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | BRCA1 CL E G H | 672 | 1100 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 5769 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | BRCA2 CL E G H | 675 | 1101 | OMIM:114480 | Breast cancer | | | | 7642 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | BRCA2 CL E G H | 675 | 1101 | OMIM:612555 | Breast-Ovarian cancer, familial, susceptibility to, 2 | | | | 7642 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 7642 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | BRCA2 CL E G H | 675 | 1101 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 7642 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | BRIP1 CL E G H | 83990 | 20473 | OMIM:114480 | Breast cancer | | | | 1086 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 1086 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | C18ORF32 CL E G H | 497661 | 31690 | OMIM:619985 | | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | CASP8 CL E G H | 841 | 1509 | OMIM:114480 | Breast cancer | | | | 37 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | | | | 317 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | | | | 317 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | CCDC141 CL E G H | 285025 | 26821 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | | | | | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | | | | 33 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | | | | | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | CDC45 CL E G H | 8318 | 1739 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 9 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | CDC45 CL E G H | 8318 | 1739 | OMIM:617063 | Meier-Gorlin syndrome 7 | | | | 9 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | CDC6 CL E G H | 990 | 1744 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 31 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | CDH1 CL E G H | 999 | 1748 | OMIM:114480 | Breast cancer | | | | 1003 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | CDH1 CL E G H | 999 | 1748 | OMIM:167000 | Ovarian cancer | | | | 1003 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | | | | 2 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | | | | 2 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 636 | | |
HP:0000769 | HP:0100829 | Galactorrhea | 2 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 636 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040282 - Frequent | | | 636 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | CDK4 CL E G H | 1019 | 1773 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 145 | | |
HP:0000769 | HP:0100829 | Galactorrhea | 2 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 2 | | |
HP:0000769 | HP:0100829 | Galactorrhea | 2 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 102 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 289 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 289 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | | | | 289 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 1 | | |
HP:0000769 | HP:0100829 | Galactorrhea | 2 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 1 | | |
HP:0000769 | HP:0100829 | Galactorrhea | 2 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | CDT1 CL E G H | 81620 | 24576 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 50 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | CDT1 CL E G H | 81620 | 24576 | OMIM:613804 | Meier-Gorlin syndrome 4 | | | | 50 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | CERT1 CL E G H | 10087 | 2205 | OMIM:616351 | Mental retardation, autosomal dominant 34 | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | | | | 16 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | | | | 515 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 515 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 515 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 515 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 515 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | CHEK2 CL E G H | 11200 | 16627 | OMIM:114480 | Breast cancer | | | | 833 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 833 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | | | | 833 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | CHEK2 CL E G H | 11200 | 16627 | OMIM:609265 | LI-FRAUMENI SYNDROME 2; LFS2 | | | | 833 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | | | | 68 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | | | | 165 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | CKAP2L CL E G H | 150468 | 26877 | ORPHA:3255 | Filippi syndrome | | | | 7 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | | | | 52 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | | | | 64 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | | | | 2 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | COLEC10 CL E G H | 10584 | 2220 | ORPHA:293843 | 3MC syndrome | | | | 3 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | COLEC11 CL E G H | 78989 | 17213 | ORPHA:293843 | 3MC syndrome | | | | 9 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | COQ8A CL E G H | 56997 | 16812 | ORPHA:139485 | Autosomal recessive ataxia due to ubiquinone deficiency | HP:0040284 - Very rare | | | 136 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | COX7B CL E G H | 1349 | 2291 | OMIM:300887 | Linear skin defects with multiple congenital anomalies 2 | | | | 6 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:167000 | Ovarian cancer | | | | 88 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | | | | 38 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | CYB5A CL E G H | 1528 | 2570 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040283 - Occasional | | | 2 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | HP:0040283 - Occasional | | | 112 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040283 - Occasional | | | 53 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | CYP17A1 CL E G H | 1586 | 2593 | OMIM:202110 | Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency | . | | | 53 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040282 - Frequent | | | 53 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | CYP19A1 CL E G H | 1588 | 2594 | OMIM:139300 | Aromatase excess syndrome | . | | | 60 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | CYP21A2 CL E G H | 1589 | 2600 | OMIM:201910 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | . | HP:0003581 - Adult onset | | 86 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | | | | 36 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | DHODH CL E G H | 1723 | 2867 | ORPHA:246 | Postaxial acrofacial dysostosis | | | | 59 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | DHODH CL E G H | 1723 | 2867 | OMIM:263750 | Postaxial acrofacial dysostosis | | | | 59 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 1 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:608093 | Congenital disorder of glycosylation, type Ij | | | | 38 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | | | | 38 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | | | | 27 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | DUSP6 CL E G H | 1848 | 3072 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 4 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | | | | 4 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 4 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 4 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 4 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | | | | 134 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | | | | 115 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | EDARADD CL E G H | 128178 | 14341 | OMIM:614940 | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | | | | 56 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 56 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | EED CL E G H | 8726 | 3188 | OMIM:617561 | Cohen-Gibson syndrome | | | | 4 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | | | | 27 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | | | | 27 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | ERBB2 CL E G H | 2064 | 3430 | OMIM:167000 | Ovarian cancer | | | | 77 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | | | | 199 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | | | | 36 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | ESR1 CL E G H | 2099 | 3467 | OMIM:114480 | Breast cancer | | | | 13 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | ESR1 CL E G H | 2099 | 3467 | ORPHA:785 | Estrogen resistance syndrome | | | | 13 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | FEZF1 CL E G H | 389549 | 22788 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 2 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | | | | 2 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | FGF17 CL E G H | 8822 | 3673 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 3 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | | | | 3 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 3 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | | | | 17 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 17 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 17 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 17 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | FGFR1 CL E G H | 2260 | 3688 | OMIM:147950 | Hypogonadotropic hypogonadism 2 with or without anosmia | . | | | 172 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | | | | 172 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 172 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 172 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 172 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | | | | 4 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | FMR1 CL E G H | 2332 | 3775 | ORPHA:261483 | Xq27.3q28 duplication syndrome | HP:0040282 - Frequent | | | 30 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | | | | 353 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | | | | 353 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | | | | 263 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | | | | 23 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | FSHR CL E G H | 2492 | 3969 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 50 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 87 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | | | | 87 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | GDF11 CL E G H | 10220 | 4216 | OMIM:619122 | VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO | | | | | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 173 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | GMNN CL E G H | 51053 | 17493 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 3 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | | | | 101 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | | | | 173 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | GNRH1 CL E G H | 2796 | 4419 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 15 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 15 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 15 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 15 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | GNRHR CL E G H | 2798 | 4421 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 92 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 92 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 92 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 92 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | 73 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0000769 | HP:0100829 | Galactorrhea | 2 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040283 - Occasional | | | 5 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | | | | 80 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | | | | 33 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | | | | 37 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:3459 | Wilson-Turner syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 21 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | | | | 21 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | 38 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | HMMR CL E G H | 3161 | 5012 | OMIM:114480 | Breast cancer | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | HNRNPK CL E G H | 3190 | 5044 | OMIM:616580 | Au-Kline syndrome | | | | 8 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | | | | 8 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | | | | 8 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | HP:0040283 - Occasional | | | 55 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | | | | 8 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 8 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 8 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 8 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | HSD17B3 CL E G H | 3293 | 5212 | ORPHA:752 | 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | HSD17B3 CL E G H | 3293 | 5212 | OMIM:264300 | Pseudohermaphroditism, male, with gynecomastia | . | | | 31 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | HP:0040282 - Frequent | | | 34 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | IBA57 CL E G H | 200205 | 27302 | OMIM:615330 | Multiple mitochondrial dysfunctions syndrome 3 | | | | 16 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | IDH1 CL E G H | 3417 | 5382 | ORPHA:163634 | Maffucci syndrome | | | | 15 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | IDH2 CL E G H | 3418 | 5383 | ORPHA:163634 | Maffucci syndrome | | | | 29 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | IGF1R CL E G H | 3480 | 5465 | ORPHA:73273 | Growth delay due to insulin-like growth factor I resistance | | | | 268 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | | | | 268 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | | | | 52 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | | | | 52 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | | | | 52 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | | | | 9 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | | | | 229 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | | | | 229 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | | | | | | |
HP:0000769 | HP:0100829 | Galactorrhea | 2 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | HP:0040283 - Occasional | | | 1 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | ITGA3 CL E G H | 3675 | 6139 | OMIM:614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | . | | | 6 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | | | | 10 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | | | | 11 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | KCTD1 CL E G H | 284252 | 18249 | ORPHA:2036 | Scalp-ear-nipple syndrome | | | | 11 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | | | | 11 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | KCTD1 CL E G H | 284252 | 18249 | ORPHA:2036 | Scalp-ear-nipple syndrome | | | | 11 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | KDM1A CL E G H | 23028 | 29079 | OMIM:616728 | Cleft palate, psychomotor retardation, and distinctive facial features | | | | 3 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | | | | 3 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | | | | 2 | | |
HP:0000769 | HP:0032314 | Abnormal areolar morphology | 2 | KDM6A CL E G H | 7403 | 12637 | OMIM:300867 | Kabuki syndrome 2 | | | | 53 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | | | | 9 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 3 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | KISS1R CL E G H | 84634 | 4510 | OMIM:614837 | Hypogonadotropic hypogonadism 8 with or without anosmia | . | | | 14 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 14 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 14 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 14 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | KLLN CL E G H | 100144748 | 37212 | OMIM:615107 | Cowden syndrome 4 | | | | 1 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | KMT2B CL E G H | 9757 | 15840 | OMIM:619934 | | | | | 11 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | KRAS CL E G H | 3845 | 6407 | OMIM:114480 | Breast cancer | | | | 196 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 196 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | | | | 196 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | KRAS CL E G H | 3845 | 6407 | OMIM:600268 | Oculoectodermal syndrome | | | | 196 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | KRT10 CL E G H | 3858 | 6413 | OMIM:609165 | Erythroderma, ichthyosiform, congenital reticular | | | | 45 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | LAS1L CL E G H | 81887 | 25726 | ORPHA:3459 | Wilson-Turner syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | LAS1L CL E G H | 81887 | 25726 | OMIM:309585 | WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS | | | | 8 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | LEP CL E G H | 3952 | 6553 | OMIM:614962 | Leptin deficiency or dysfunction | . | | | 47 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | HP:0040281 - Very frequent | | | 47 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | HP:0040281 - Very frequent | | | 46 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | LHB CL E G H | 3972 | 6584 | OMIM:228300 | Hypogonadotropic hypogonadism 23 without anosmia | . | | | 9 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 43 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040282 - Frequent | | | 645 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | 645 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | | | | 43 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | | | | 21 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | | | | 93 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | MAN1B1 CL E G H | 11253 | 6823 | OMIM:614202 | Rafiq syndrome | | | | 93 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 13 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | | | | 4 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | MASP1 CL E G H | 5648 | 6901 | ORPHA:293843 | 3MC syndrome | | | | 21 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | MASP1 CL E G H | 5648 | 6901 | OMIM:257920 | 3mc syndrome 1 | | | | 21 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | MBD4 CL E G H | 8930 | 6919 | OMIM:619975 | | | | | 1 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | MC1R CL E G H | 4157 | 6929 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 124 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | MDH2 CL E G H | 4191 | 6971 | OMIM:617339 | Epileptic encephalopathy, early infantile, 51 | | | | 4 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | | | | 1 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | | | | 950 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | MEFV CL E G H | 4210 | 6998 | ORPHA:3243 | Sweet syndrome | | | | 281 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0000769 | HP:0100829 | Galactorrhea | 2 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 462 | | |
HP:0000769 | HP:0100829 | Galactorrhea | 2 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99725 | Pituitary gigantism | HP:0040283 - Occasional | | | 462 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 462 | | |
HP:0000769 | HP:0100829 | Galactorrhea | 2 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 462 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | | | | 39 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | MGMT CL E G H | 4255 | 7059 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 3 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | MITF CL E G H | 4286 | 7105 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 91 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | MLH1 CL E G H | 4292 | 7127 | OMIM:158320 | Muir-Torre syndrome | | | | 1819 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | MLH1 CL E G H | 4292 | 7127 | ORPHA:587 | Muir-Torre syndrome | | | | 1819 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | MRE11 CL E G H | 4361 | 7230 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 532 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | MRPS22 CL E G H | 56945 | 14508 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 25 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | MSH2 CL E G H | 4436 | 7325 | ORPHA:587 | Muir-Torre syndrome | | | | 2162 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | MSH2 CL E G H | 4436 | 7325 | OMIM:158320 | Muir-Torre syndrome | | | | 2162 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | MSH6 CL E G H | 2956 | 7329 | ORPHA:587 | Muir-Torre syndrome | | | | 2232 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | MTX2 CL E G H | 10651 | 7506 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | NBN CL E G H | 4683 | 7652 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 706 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | | | | | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | | | | 4 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | | | | 1952 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | | | | 1952 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | NFIX CL E G H | 4784 | 7788 | ORPHA:447980 | 19p13.3 microduplication syndrome | | | | 40 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | | | | 55 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | | | | 494 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | | | | 10 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | NQO2 CL E G H | 4835 | 7856 | OMIM:114480 | Breast cancer | | | | | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 48 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 38 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 38 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | | | | 102 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | NSMF CL E G H | 26012 | 29843 | OMIM:614838 | Hypogonadotropic hypogonadism 9 with or without anosmia | . | | | 6 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 6 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | NTHL1 CL E G H | 4913 | 8028 | OMIM:616415 | Familial adenomatous polyposis 3 | | | | 2 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | NTHL1 CL E G H | 4913 | 8028 | ORPHA:454840 | NTHL1-related attenuated familial adenomatous polyposis | | | | 2 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | NUP107 CL E G H | 57122 | 29914 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 5 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | NUP188 CL E G H | 23511 | 17859 | OMIM:618804 | SANDESTIG-STEFANOVA SYNDROME; SANDSTEF | | | | 4 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | | | | 201 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | OPCML CL E G H | 4978 | 8143 | OMIM:167000 | Ovarian cancer | | | | 5 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | ORC1 CL E G H | 4998 | 8487 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 53 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | | | | 53 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | ORC4 CL E G H | 5000 | 8490 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 21 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | ORC4 CL E G H | 5000 | 8490 | OMIM:613800 | Meier-Gorlin syndrome 2 | | | | 21 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | ORC6 CL E G H | 23594 | 17151 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 39 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | | | | 39 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 41 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | | | | 24 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | | | | 24 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PALB2 CL E G H | 79728 | 26144 | OMIM:114480 | Breast cancer | | | | 1349 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 1349 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PALB2 CL E G H | 79728 | 26144 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 1349 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 192 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PDE11A CL E G H | 50940 | 8773 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 13 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PDE8B CL E G H | 8622 | 8794 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 75 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PEX3 CL E G H | 8504 | 8858 | OMIM:617370 | Peroxisome biogenesis disorder 10B | | | | 47 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 8 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 20 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PHB1 CL E G H | 5245 | 8912 | OMIM:114480 | Breast cancer | | | | | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | PHF6 CL E G H | 84295 | 18145 | OMIM:301900 | Borjeson-Forssman-Lehmann syndrome | . | | | 29 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | PHF6 CL E G H | 84295 | 18145 | ORPHA:127 | Borjeson-Forssman-Lehmann syndrome | HP:0040281 - Very frequent | | | 29 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 7 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | | | | 36 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 36 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | | | | 36 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | | | | 37 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 84 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | | | | 12 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | | | | 12 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 57 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 6 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 2 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PIK3CA CL E G H | 5290 | 8975 | OMIM:114480 | Breast cancer | | | | 162 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | | | | 162 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | . | | | 162 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | | | | 162 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PIK3CA CL E G H | 5290 | 8975 | OMIM:167000 | Ovarian cancer | | | | 162 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | | | | 150 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | | | | 103 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | HP:0040281 - Very frequent | | | 103 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | | | | 10 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | POLD1 CL E G H | 5424 | 9175 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | | | | 731 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | POLE CL E G H | 5426 | 9177 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | | | | 1129 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | . | | | 138 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | POLR3H CL E G H | 171568 | 30349 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | POT1 CL E G H | 25913 | 17284 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 23 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 36 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PPM1D CL E G H | 8493 | 9277 | OMIM:114480 | Breast cancer | | | | 22 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | | | | 10 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PRKACA CL E G H | 5566 | 9380 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 2 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 134 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PRKN CL E G H | 5071 | 8607 | OMIM:167000 | Ovarian cancer | | | | 138 | | |
HP:0000769 | HP:0100829 | Galactorrhea | 2 | PRLR CL E G H | 5618 | 9446 | ORPHA:397685 | Familial hyperprolactinemia | HP:0040281 - Very frequent | | | 2 | | |
HP:0000769 | HP:0100829 | Galactorrhea | 2 | PRLR CL E G H | 5618 | 9446 | OMIM:615555 | HYPERPROLACTINEMIA | HP:0040283 - Occasional | | | 2 | | |
HP:0000769 | HP:0031109 | Agalactia | 2 | PRLR CL E G H | 5618 | 9446 | OMIM:615555 | HYPERPROLACTINEMIA | HP:0040284 - Very rare | | | 2 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PRLR CL E G H | 5618 | 9446 | OMIM:615554 | MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB | | | | 2 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | | | | 9 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 9 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 9 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 9 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | | | | 34 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 34 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 54 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 54 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PSAT1 CL E G H | 29968 | 19129 | OMIM:616038 | Neu-Laxova syndrome 2 | | | | 27 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | PSMC3IP CL E G H | 29893 | 17928 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 2 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PTEN CL E G H | 5728 | 9588 | ORPHA:109 | Bannayan-Riley-Ruvalcaba syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | | | | 948 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | | | | 948 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | . | | | 948 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PTEN CL E G H | 5728 | 9588 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 948 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PTEN CL E G H | 5728 | 9588 | ORPHA:65285 | Lhermitte-Duclos disease | | | | 948 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | PTEN CL E G H | 5728 | 9588 | ORPHA:137608 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | | | | 291 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |
HP:0000769 | HP:0032314 | Abnormal areolar morphology | 2 | PTPRF CL E G H | 5792 | 9670 | OMIM:616001 | Breasts and/or nipples, aplasia or hypoplasia of, 2 | | | | 1 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | PTPRF CL E G H | 5792 | 9670 | OMIM:616001 | Breasts and/or nipples, aplasia or hypoplasia of, 2 | | | | 1 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | | | | 85 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | | | | 25 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | RAD50 CL E G H | 10111 | 9816 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 789 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | RAD51 CL E G H | 5888 | 9817 | OMIM:114480 | Breast cancer | | | | 9 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | RAD51 CL E G H | 5888 | 9817 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 9 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | RAD51C CL E G H | 5889 | 9820 | OMIM:613399 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3; BROVCA3 | | | | 391 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | RAD51C CL E G H | 5889 | 9820 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 391 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | RAD51D CL E G H | 5892 | 9823 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 345 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | RAD54L CL E G H | 8438 | 9826 | OMIM:114480 | Breast cancer | | | | 5 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | | | | 212 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | | | | 3 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | RB1CC1 CL E G H | 9821 | 15574 | OMIM:114480 | Breast cancer | | | | 2 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | RBM28 CL E G H | 55131 | 21863 | OMIM:612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | . | | | 1 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | RELA CL E G H | 5970 | 9955 | ORPHA:251636 | Ependymoma | HP:0040284 - Very rare | | | 1 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | | | | 3 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | RFT1 CL E G H | 91869 | 30220 | OMIM:612015 | Congenital disorder of glycosylation, type IN | | | | 92 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | RFT1 CL E G H | 91869 | 30220 | ORPHA:244310 | RFT1-CDG | | | | 92 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | | | | 39 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | RNF216 CL E G H | 54476 | 21698 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | RNF216 CL E G H | 54476 | 21698 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | | | | 10 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | RNF43 CL E G H | 54894 | 18505 | ORPHA:157798 | Serrated polyposis syndrome | | | | 5 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | | | | 1 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | RSPO1 CL E G H | 284654 | 21679 | OMIM:610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal | . | | | 3 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618021 | Tetraamelia syndrome 2 | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | RSPO2 CL E G H | 340419 | 28583 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | | | | 237 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 237 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | | | | 147 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | | | | 129 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 129 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | | | | 60 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | SEC23B CL E G H | 10483 | 10702 | OMIM:616858 | Cowden syndrome 7 | | | | 60 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | | | | 14 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | SEMA3E CL E G H | 9723 | 10727 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 16 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | SET CL E G H | 6418 | 10760 | OMIM:618106 | Mental retardation, autosomal dominant 58 | | | | 1 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | SH3PXD2B CL E G H | 285590 | 29242 | ORPHA:137834 | Frank-Ter Haar syndrome | HP:0040283 - Occasional | | | 134 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | SLC22A18 CL E G H | 5002 | 10964 | OMIM:114480 | Breast cancer | | | | 3 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | | | | 14 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | | | | 27 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | SLC6A17 CL E G H | 388662 | 31399 | ORPHA:457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | | | | 12 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | HP:0040283 - Occasional | | | 13 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 504 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:3051 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | | | | 135 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | | | | 91 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | HP:0040282 - Frequent | | | 174 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | | | | 19 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | | | | 19 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | | | | 315 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | | | | 30 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | | | | 61 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 61 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 24 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | SOX6 CL E G H | 55553 | 16421 | OMIM:618971 | TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS | | | | 1 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 109 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | SPIDR CL E G H | 23514 | 28971 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 2 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | SPRY4 CL E G H | 81848 | 15533 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 5 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | | | | 5 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 5 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 5 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 5 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000769 | HP:0032408 | Breast mass | 2 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | SRA1 CL E G H | 10011 | 11281 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612379 | Congenital disorder of glycosylation, type IQ | | | | 80 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | HP:0040283 - Occasional | | | 23 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | | | | 23 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 23 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | SRY CL E G H | 6736 | 11311 | OMIM:400045 | 46XX sex reversal 1 | . | | | 23 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | STAG1 CL E G H | 10274 | 11354 | OMIM:617635 | Mental retardation, autosomal dominant 47 | | | | 9 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | STK11 CL E G H | 6794 | 11389 | OMIM:175200 | Peutz-Jeghers syndrome | | | | 740 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | | | | 740 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | STK11 CL E G H | 6794 | 11389 | OMIM:175200 | Peutz-Jeghers syndrome | . | | | 740 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | STT3A CL E G H | 3703 | 6172 | OMIM:619714 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD | | | | 21 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 6 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | | | | 34 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 34 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0000769 | HP:0032314 | Abnormal areolar morphology | 2 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | | | | 22 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | | | | 22 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | | | | 22 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | | | | 100 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | | | | 100 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TCF20 CL E G H | 6942 | 11631 | OMIM:618430 | Developmental delay with variable intellectual impairment and behavioral abnormalities | | | | 1 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | TCF20 CL E G H | 6942 | 11631 | OMIM:618430 | Developmental delay with variable intellectual impairment and behavioral abnormalities | | | | 1 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | TERF2IP CL E G H | 54386 | 19246 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | TERT CL E G H | 7015 | 11730 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 238 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | | | | 104 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | | | | 1 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | | | | 1 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TNRC6B CL E G H | 23112 | 29190 | OMIM:619243 | GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | TP53 CL E G H | 7157 | 11998 | OMIM:114480 | Breast cancer | | | | 911 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 911 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | TP53 CL E G H | 7157 | 11998 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | | | | 911 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | TP53 CL E G H | 7157 | 11998 | OMIM:151623 | Li-Fraumeni syndrome | | | | 911 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | | | | 911 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TP63 CL E G H | 8626 | 15979 | ORPHA:978 | ADULT syndrome | | | | 140 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | | | | 140 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | TP63 CL E G H | 8626 | 15979 | ORPHA:978 | ADULT syndrome | | | | 140 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | | | | 140 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | | | | 140 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | | | | 140 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | | | | 140 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | | | | 140 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TP63 CL E G H | 8626 | 15979 | OMIM:603543 | Limb-Mammary syndrome | | | | 140 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | | | | 140 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TRAF7 CL E G H | 84231 | 20456 | OMIM:618164 | Cardiac, facial, and digital anomalies with developmental delay | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | | | | 2 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TTC5 CL E G H | 91875 | 19274 | OMIM:619244 | NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | | | | 14 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | | | | 7 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | | | | 7 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | | | | 7 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | | | | 7 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1231 | Barber-Say syndrome | | | | 7 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1231 | Barber-Say syndrome | | | | 7 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | UBA2 CL E G H | 10054 | 30661 | OMIM:619959 | | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | | | | 25 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | | | | 27 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | | | | 27 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | | | | 20 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | | | | 20 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | WASF1 CL E G H | 8936 | 12732 | OMIM:618707 | NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | | | | 83 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | WDR11 CL E G H | 55717 | 13831 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 10 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | | | | 10 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 10 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 10 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 10 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | | | | 95 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | WDR37 CL E G H | 22884 | 31406 | OMIM:618652 | NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | WNT3 CL E G H | 7473 | 12782 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | | | | 12 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | | | | 13 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | | | | 310 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 177 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 149 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | XRCC3 CL E G H | 7517 | 12830 | OMIM:114480 | Breast cancer | | | | 2 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | | | | 7 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | ZBTB20 CL E G H | 26137 | 13503 | ORPHA:3042 | Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | HP:0040282 - Frequent | | | 17 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | . | | | 17 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | | | | 362 | | |
HP:0000769 | HP:0000771 | Gynecomastia | 2 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 31 | | |
HP:0000769 | HP:0100013 | Neoplasm of the breast | 2 | ZFTA CL E G H | 65998 | 28449 | ORPHA:251636 | Ependymoma | HP:0040284 - Very rare | | | | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ZMYND11 CL E G H | 10771 | 16966 | OMIM:616083 | Mental retardation, autosomal dominant 30 | | | | 24 | | |
HP:0000769 | HP:0004404 | Abnormal nipple morphology | 2 | ZNF148 CL E G H | 7707 | 12933 | OMIM:617260 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | | | | 4 | | |
HP:0000769 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 2 | ZSWIM7 CL E G H | 125150 | 26993 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |
HP:0000769 | HP:0031509 | Dry nipple | 3 | CL E G H | | | | | | | | | | |
HP:0000769 | HP:0030076 | Lobular carcinoma in situ | 3 | CL E G H | | | | | | | | | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040283 - Occasional | | | 7 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | | | | 53 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | . | | | 120 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | ACTB CL E G H | 60 | 132 | ORPHA:64755 | Becker nevus syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | AKT1 CL E G H | 207 | 391 | OMIM:114480 | Breast cancer | . | | | 54 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 54 | | |
HP:0000769 | HP:0010619 | Fibroadenoma of the breast | 3 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | . | | | 54 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | . | | | 54 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | AKT1 CL E G H | 207 | 391 | OMIM:167000 | Ovarian cancer | . | | | 54 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | ALG11 CL E G H | 440138 | 32456 | ORPHA:280071 | ALG11-CDG | HP:0040283 - Occasional | | | 41 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | ALG11 CL E G H | 440138 | 32456 | OMIM:613661 | Congenital disorder of glycosylation, type Ip | HP:0040283 - Occasional | | | 41 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040284 - Very rare | | | 68 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | . | | | 68 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | ALG14 CL E G H | 199857 | 28287 | OMIM:619036 | MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA | | | | 12 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | HP:0040283 - Occasional | | | 37 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | HP:0040283 - Occasional | | | 46 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | | | | 93 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040282 - Frequent | | | 93 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | | | | 93 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | | | | 93 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | | | | 34 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | | | | 8 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | . | | | 8 | | |
HP:0000769 | HP:0010619 | Fibroadenoma of the breast | 3 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | HP:0040283 - Occasional | | | 3179 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | HP:0040284 - Very rare | | | 3179 | | |
HP:0000769 | HP:0010619 | Fibroadenoma of the breast | 3 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | HP:0040284 - Very rare | | | 3179 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | APC CL E G H | 324 | 583 | OMIM:135290 | Desmoid disease, hereditary | | | | 3179 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | HP:0040284 - Very rare | | | 3179 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | | | | 3 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | | | | 147 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | | | | 1 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | . | | | 145 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | ATM CL E G H | 472 | 795 | OMIM:114480 | Breast cancer | . | | | 3267 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | . | | | 16 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | ATR CL E G H | 545 | 882 | OMIM:614564 | Cutaneous telangiectasia and cancer syndrome, familial | HP:0040283 - Occasional | | | 168 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | AXIN2 CL E G H | 8313 | 904 | OMIM:608615 | OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS | | | | 435 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | | | | 36 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | | | | 36 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | BARD1 CL E G H | 580 | 952 | OMIM:114480 | Breast cancer | . | | | 790 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | BARD1 CL E G H | 580 | 952 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 790 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | BRCA1 CL E G H | 672 | 1100 | OMIM:114480 | Breast cancer | . | | | 5769 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | BRCA1 CL E G H | 672 | 1100 | OMIM:604370 | Breast-Ovarian cancer, familial, susceptibility to, 1 | | | | 5769 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 5769 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | BRCA1 CL E G H | 672 | 1100 | OMIM:617883 | Fanconi anemia, complementation group S | . | | | 5769 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | BRCA1 CL E G H | 672 | 1100 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 5769 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | BRCA2 CL E G H | 675 | 1101 | OMIM:114480 | Breast cancer | . | | | 7642 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | BRCA2 CL E G H | 675 | 1101 | OMIM:612555 | Breast-Ovarian cancer, familial, susceptibility to, 2 | . | | | 7642 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 7642 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | BRCA2 CL E G H | 675 | 1101 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 7642 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | BRIP1 CL E G H | 83990 | 20473 | OMIM:114480 | Breast cancer | . | | | 1086 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 1086 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | C18ORF32 CL E G H | 497661 | 31690 | OMIM:619985 | | | | | | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0000769 | HP:0002562 | Low-set nipples | 3 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000769 | HP:0010619 | Fibroadenoma of the breast | 3 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 87 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | CASP8 CL E G H | 841 | 1509 | OMIM:114480 | Breast cancer | . | | | 37 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | | | | 317 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | | | | 317 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | | | | | | |
HP:0000769 | HP:0100783 | Breast aplasia | 3 | CDC45 CL E G H | 8318 | 1739 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000769 | HP:0100783 | Breast aplasia | 3 | CDC45 CL E G H | 8318 | 1739 | OMIM:617063 | Meier-Gorlin syndrome 7 | | | | 9 | | |
HP:0000769 | HP:0100783 | Breast aplasia | 3 | CDC6 CL E G H | 990 | 1744 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | CDH1 CL E G H | 999 | 1748 | OMIM:114480 | Breast cancer | . | | | 1003 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | CDH1 CL E G H | 999 | 1748 | OMIM:167000 | Ovarian cancer | . | | | 1003 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | | | | 2 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | | | | 2 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 289 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040282 - Frequent | | | 289 | | |
HP:0000769 | HP:0100783 | Breast aplasia | 3 | CDT1 CL E G H | 81620 | 24576 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 50 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | CDT1 CL E G H | 81620 | 24576 | OMIM:613804 | Meier-Gorlin syndrome 4 | . | | | 50 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | CERT1 CL E G H | 10087 | 2205 | OMIM:616351 | Mental retardation, autosomal dominant 34 | | | | | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | | | | 16 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 515 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 515 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 515 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | CHEK2 CL E G H | 11200 | 16627 | OMIM:114480 | Breast cancer | . | | | 833 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 833 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040282 - Frequent | | | 833 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | CHEK2 CL E G H | 11200 | 16627 | OMIM:609265 | LI-FRAUMENI SYNDROME 2; LFS2 | | | | 833 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | | | | 68 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | | | | 165 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | CKAP2L CL E G H | 150468 | 26877 | ORPHA:3255 | Filippi syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | | | | 52 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | COLEC10 CL E G H | 10584 | 2220 | ORPHA:293843 | 3MC syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | COLEC11 CL E G H | 78989 | 17213 | ORPHA:293843 | 3MC syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | COX7B CL E G H | 1349 | 2291 | OMIM:300887 | Linear skin defects with multiple congenital anomalies 2 | | | | 6 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:167000 | Ovarian cancer | . | | | 88 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | DHODH CL E G H | 1723 | 2867 | ORPHA:246 | Postaxial acrofacial dysostosis | HP:0040281 - Very frequent | | | 59 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | DHODH CL E G H | 1723 | 2867 | OMIM:263750 | Postaxial acrofacial dysostosis | . | | | 59 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:608093 | Congenital disorder of glycosylation, type Ij | . | | | 38 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040283 - Occasional | | | 38 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 4 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 4 | | |
HP:0000769 | HP:0100783 | Breast aplasia | 3 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040284 - Very rare | | | 134 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | | | | 115 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | EDARADD CL E G H | 128178 | 14341 | OMIM:614940 | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | | | | 56 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 56 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | EED CL E G H | 8726 | 3188 | OMIM:617561 | Cohen-Gibson syndrome | | | | 4 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | HP:0040283 - Occasional | | | 27 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | . | | | 27 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | ERBB2 CL E G H | 2064 | 3430 | OMIM:167000 | Ovarian cancer | . | | | 77 | | |
HP:0000769 | HP:0002562 | Low-set nipples | 3 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0000769 | HP:0002562 | Low-set nipples | 3 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | | | | 199 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | | | | 36 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | ESR1 CL E G H | 2099 | 3467 | OMIM:114480 | Breast cancer | . | | | 13 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | ESR1 CL E G H | 2099 | 3467 | ORPHA:785 | Estrogen resistance syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | . | | | 81 | | |
HP:0000769 | HP:0010619 | Fibroadenoma of the breast | 3 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 59 | | |
HP:0000769 | HP:0010619 | Fibroadenoma of the breast | 3 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 37 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 17 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 17 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 17 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 172 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 172 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 175 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | | | | 353 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | | | | 353 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | | | | 263 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | | | | 23 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | | | | 87 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | GDF11 CL E G H | 10220 | 4216 | OMIM:619122 | VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO | | | | | | |
HP:0000769 | HP:0100783 | Breast aplasia | 3 | GMNN CL E G H | 51053 | 17493 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | HP:0040284 - Very rare | | | 101 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | | | | 173 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 15 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 15 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 92 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 92 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040281 - Very frequent | | | 73 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | | | | 80 | | |
HP:0000769 | HP:0002562 | Low-set nipples | 3 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0000769 | HP:0002562 | Low-set nipples | 3 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000769 | HP:0002562 | Low-set nipples | 3 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | | | | 33 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | | | | 37 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | HMMR CL E G H | 3161 | 5012 | OMIM:114480 | Breast cancer | . | | | | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | HNRNPK CL E G H | 3190 | 5044 | OMIM:616580 | Au-Kline syndrome | . | | | 8 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | HNRNPK CL E G H | 3190 | 5044 | OMIM:616580 | Au-Kline syndrome | | | | 8 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040283 - Occasional | | | 8 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040283 - Occasional | | | 8 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040283 - Occasional | | | 8 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040283 - Occasional | | | 8 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 8 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 8 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | IBA57 CL E G H | 200205 | 27302 | OMIM:615330 | Multiple mitochondrial dysfunctions syndrome 3 | | | | 16 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | IDH1 CL E G H | 3417 | 5382 | ORPHA:163634 | Maffucci syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | IDH2 CL E G H | 3418 | 5383 | ORPHA:163634 | Maffucci syndrome | HP:0040283 - Occasional | | | 29 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | IGF1R CL E G H | 3480 | 5465 | ORPHA:73273 | Growth delay due to insulin-like growth factor I resistance | | | | 268 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | | | | 268 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | | | | 52 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040282 - Frequent | | | 52 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | |
HP:0000769 | HP:0100783 | Breast aplasia | 3 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0000769 | HP:0004405 | Prominent nipples | 3 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | . | | | 229 | | |
HP:0000769 | HP:0004405 | Prominent nipples | 3 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | HP:0040282 - Frequent | | | 229 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | | | | | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000769 | HP:0002562 | Low-set nipples | 3 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | | | | 10 | | |
HP:0000769 | HP:0100783 | Breast aplasia | 3 | KCTD1 CL E G H | 284252 | 18249 | ORPHA:2036 | Scalp-ear-nipple syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | . | | | 11 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | KCTD1 CL E G H | 284252 | 18249 | ORPHA:2036 | Scalp-ear-nipple syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0000769 | HP:0100783 | Breast aplasia | 3 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | . | | | 11 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | KDM1A CL E G H | 23028 | 29079 | OMIM:616728 | Cleft palate, psychomotor retardation, and distinctive facial features | HP:0040283 - Occasional | | | 3 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | | | | 2 | | |
HP:0000769 | HP:0032315 | Areolar fullness | 3 | KDM6A CL E G H | 7403 | 12637 | OMIM:300867 | Kabuki syndrome 2 | | | | 53 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | | | | 9 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | | | | | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | | | | | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 14 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 14 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | KLLN CL E G H | 100144748 | 37212 | OMIM:615107 | Cowden syndrome 4 | | | | 1 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | KMT2B CL E G H | 9757 | 15840 | OMIM:619934 | | | | | 11 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | KRAS CL E G H | 3845 | 6407 | OMIM:114480 | Breast cancer | . | | | 196 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 196 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | | | | 196 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | KRAS CL E G H | 3845 | 6407 | OMIM:600268 | Oculoectodermal syndrome | . | | | 196 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | KRT10 CL E G H | 3858 | 6413 | OMIM:609165 | Erythroderma, ichthyosiform, congenital reticular | | | | 45 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000769 | HP:0100783 | Breast aplasia | 3 | LMNA CL E G H | 4000 | 6636 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | HP:0040283 - Occasional | | | 645 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | | | | 43 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | | | | | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | MAN1B1 CL E G H | 11253 | 6823 | OMIM:614202 | Rafiq syndrome | | | | 93 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | | | | 4 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | MASP1 CL E G H | 5648 | 6901 | ORPHA:293843 | 3MC syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | MASP1 CL E G H | 5648 | 6901 | OMIM:257920 | 3mc syndrome 1 | . | | | 21 | | |
HP:0000769 | HP:0030075 | Ductal carcinoma in situ | 3 | MBD4 CL E G H | 8930 | 6919 | OMIM:619975 | | | | | 1 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | MDH2 CL E G H | 4191 | 6971 | OMIM:617339 | Epileptic encephalopathy, early infantile, 51 | HP:0040283 - Occasional | | | 4 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | MEFV CL E G H | 4210 | 6998 | ORPHA:3243 | Sweet syndrome | HP:0040284 - Very rare | | | 281 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | . | | | 13 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | | | | 39 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | HP:0040283 - Occasional | | | 39 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | MLH1 CL E G H | 4292 | 7127 | OMIM:158320 | Muir-Torre syndrome | . | | | 1819 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | MLH1 CL E G H | 4292 | 7127 | ORPHA:587 | Muir-Torre syndrome | HP:0040283 - Occasional | | | 1819 | | |
HP:0000769 | HP:0002562 | Low-set nipples | 3 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | MRE11 CL E G H | 4361 | 7230 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 532 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | MSH2 CL E G H | 4436 | 7325 | ORPHA:587 | Muir-Torre syndrome | HP:0040283 - Occasional | | | 2162 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | MSH2 CL E G H | 4436 | 7325 | OMIM:158320 | Muir-Torre syndrome | . | | | 2162 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | MSH6 CL E G H | 2956 | 7329 | ORPHA:587 | Muir-Torre syndrome | HP:0040283 - Occasional | | | 2232 | | |
HP:0000769 | HP:0100783 | Breast aplasia | 3 | MTX2 CL E G H | 10651 | 7506 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | NBN CL E G H | 4683 | 7652 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 706 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | | | | 4 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | | | | 1952 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040284 - Very rare | | | 1952 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | NFIX CL E G H | 4784 | 7788 | ORPHA:447980 | 19p13.3 microduplication syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | | | | 55 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | | | | 494 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | NQO2 CL E G H | 4835 | 7856 | OMIM:114480 | Breast cancer | . | | | | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | | | | 102 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 118 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | NTHL1 CL E G H | 4913 | 8028 | OMIM:616415 | Familial adenomatous polyposis 3 | . | | | 2 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | NTHL1 CL E G H | 4913 | 8028 | ORPHA:454840 | NTHL1-related attenuated familial adenomatous polyposis | HP:0040282 - Frequent | | | 2 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | NUP188 CL E G H | 23511 | 17859 | OMIM:618804 | SANDESTIG-STEFANOVA SYNDROME; SANDSTEF | | | | 4 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | | | | 201 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | OPCML CL E G H | 4978 | 8143 | OMIM:167000 | Ovarian cancer | . | | | 5 | | |
HP:0000769 | HP:0100783 | Breast aplasia | 3 | ORC1 CL E G H | 4998 | 8487 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 53 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0000769 | HP:0100783 | Breast aplasia | 3 | ORC4 CL E G H | 5000 | 8490 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | ORC4 CL E G H | 5000 | 8490 | OMIM:613800 | Meier-Gorlin syndrome 2 | . | | | 21 | | |
HP:0000769 | HP:0100783 | Breast aplasia | 3 | ORC6 CL E G H | 23594 | 17151 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | . | | | 39 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | | | | 24 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | | | | 24 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | PALB2 CL E G H | 79728 | 26144 | OMIM:114480 | Breast cancer | . | | | 1349 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 1349 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | PALB2 CL E G H | 79728 | 26144 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 1349 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 192 | | |
HP:0000769 | HP:0030075 | Ductal carcinoma in situ | 3 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0000769 | HP:0010619 | Fibroadenoma of the breast | 3 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | HP:0040283 - Occasional | | | 13 | | |
HP:0000769 | HP:0010619 | Fibroadenoma of the breast | 3 | PDE11A CL E G H | 50940 | 8773 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 13 | | |
HP:0000769 | HP:0010619 | Fibroadenoma of the breast | 3 | PDE8B CL E G H | 8622 | 8794 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 75 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | PEX3 CL E G H | 8504 | 8858 | OMIM:617370 | Peroxisome biogenesis disorder 10B | . | | | 47 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 20 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | PHB1 CL E G H | 5245 | 8912 | OMIM:114480 | Breast cancer | . | | | | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0000769 | HP:0002562 | Low-set nipples | 3 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | | | | 36 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | | | | 37 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 84 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | . | | | 12 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | PIK3CA CL E G H | 5290 | 8975 | OMIM:114480 | Breast cancer | . | | | 162 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 162 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | . | | | 162 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | PIK3CA CL E G H | 5290 | 8975 | OMIM:167000 | Ovarian cancer | . | | | 162 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0000769 | HP:0100783 | Breast aplasia | 3 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | HP:0040283 - Occasional | | | | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040282 - Frequent | | | 150 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | HP:0040283 - Occasional | | | 103 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | HP:0040283 - Occasional | | | 10 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | POLD1 CL E G H | 5424 | 9175 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | HP:0040283 - Occasional | | | 731 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | POLE CL E G H | 5426 | 9177 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | HP:0040283 - Occasional | | | 1129 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | PPM1D CL E G H | 8493 | 9277 | OMIM:114480 | Breast cancer | . | | | 22 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | HP:0040284 - Very rare | | | 10 | | |
HP:0000769 | HP:0010619 | Fibroadenoma of the breast | 3 | PRKACA CL E G H | 5566 | 9380 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 2 | | |
HP:0000769 | HP:0030075 | Ductal carcinoma in situ | 3 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0000769 | HP:0010619 | Fibroadenoma of the breast | 3 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | HP:0040283 - Occasional | | | 134 | | |
HP:0000769 | HP:0010619 | Fibroadenoma of the breast | 3 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 134 | | |
HP:0000769 | HP:0010619 | Fibroadenoma of the breast | 3 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 10 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | PRKN CL E G H | 5071 | 8607 | OMIM:167000 | Ovarian cancer | . | | | 138 | | |
HP:0000769 | HP:0010619 | Fibroadenoma of the breast | 3 | PRLR CL E G H | 5618 | 9446 | OMIM:615554 | MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB | | | | 2 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 9 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 9 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | PSAT1 CL E G H | 29968 | 19129 | OMIM:616038 | Neu-Laxova syndrome 2 | | | | 27 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | . | | | 948 | | |
HP:0000769 | HP:0010619 | Fibroadenoma of the breast | 3 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | . | | | 948 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | PTEN CL E G H | 5728 | 9588 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 948 | | |
HP:0000769 | HP:0010619 | Fibroadenoma of the breast | 3 | PTEN CL E G H | 5728 | 9588 | ORPHA:65285 | Lhermitte-Duclos disease | HP:0040282 - Frequent | | | 948 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | | | | 291 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |
HP:0000769 | HP:0100853 | Hypoplastic areola | 3 | PTPRF CL E G H | 5792 | 9670 | OMIM:616001 | Breasts and/or nipples, aplasia or hypoplasia of, 2 | | | | 1 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | PTPRF CL E G H | 5792 | 9670 | OMIM:616001 | Breasts and/or nipples, aplasia or hypoplasia of, 2 | | | | 1 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | | | | 85 | | |
HP:0000769 | HP:0004405 | Prominent nipples | 3 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | . | | | 135 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | | | | 25 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | RAD50 CL E G H | 10111 | 9816 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 789 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | RAD51 CL E G H | 5888 | 9817 | OMIM:114480 | Breast cancer | . | | | 9 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | RAD51 CL E G H | 5888 | 9817 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | RAD51C CL E G H | 5889 | 9820 | OMIM:613399 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3; BROVCA3 | | | | 391 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | RAD51C CL E G H | 5889 | 9820 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 391 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | RAD51D CL E G H | 5892 | 9823 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 345 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | RAD54L CL E G H | 8438 | 9826 | OMIM:114480 | Breast cancer | . | | | 5 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | | | | 212 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | | | | 3 | | |
HP:0000769 | HP:0010619 | Fibroadenoma of the breast | 3 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | RB1CC1 CL E G H | 9821 | 15574 | OMIM:114480 | Breast cancer | . | | | 2 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0000769 | HP:0100783 | Breast aplasia | 3 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | RFT1 CL E G H | 91869 | 30220 | OMIM:612015 | Congenital disorder of glycosylation, type IN | . | | | 92 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | RFT1 CL E G H | 91869 | 30220 | ORPHA:244310 | RFT1-CDG | HP:0040282 - Frequent | | | 92 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | | | | 39 | | |
HP:0000769 | HP:0002562 | Low-set nipples | 3 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | RNF216 CL E G H | 54476 | 21698 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | RNF43 CL E G H | 54894 | 18505 | ORPHA:157798 | Serrated polyposis syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | | | | 1 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618021 | Tetraamelia syndrome 2 | | | | | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | RSPO2 CL E G H | 340419 | 28583 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | HP:0040282 - Frequent | | | | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 237 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 147 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 129 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0000769 | HP:0030075 | Ductal carcinoma in situ | 3 | SEC23B CL E G H | 10483 | 10702 | OMIM:616858 | Cowden syndrome 7 | . | | | 60 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | SEC23B CL E G H | 10483 | 10702 | OMIM:616858 | Cowden syndrome 7 | . | | | 60 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | SET CL E G H | 6418 | 10760 | OMIM:618106 | Mental retardation, autosomal dominant 58 | | | | 1 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | SLC22A18 CL E G H | 5002 | 10964 | OMIM:114480 | Breast cancer | . | | | 3 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | . | | | 14 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | SLC6A17 CL E G H | 388662 | 31399 | ORPHA:457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 504 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:3051 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | | | | 135 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | | | | 91 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | | | | 19 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | | | | 19 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | | | | 315 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | | | | 30 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | SOX6 CL E G H | 55553 | 16421 | OMIM:618971 | TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS | | | | 1 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 5 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 5 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612379 | Congenital disorder of glycosylation, type IQ | | | | 80 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | | | | 23 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | STAG1 CL E G H | 10274 | 11354 | OMIM:617635 | Mental retardation, autosomal dominant 47 | | | | 9 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | HP:0040283 - Occasional | | | 740 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | STK11 CL E G H | 6794 | 11389 | OMIM:175200 | Peutz-Jeghers syndrome | . | | | 740 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | STT3A CL E G H | 3703 | 6172 | OMIM:619714 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD | | | | 21 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0000769 | HP:0002562 | Low-set nipples | 3 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | | | | 22 | | |
HP:0000769 | HP:0100853 | Hypoplastic areola | 3 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | . | | | 22 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | | | | 22 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | . | | | 100 | | |
HP:0000769 | HP:0100783 | Breast aplasia | 3 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | . | | | 100 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | | | | 100 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | TCF20 CL E G H | 6942 | 11631 | OMIM:618430 | Developmental delay with variable intellectual impairment and behavioral abnormalities | . | | | 1 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | HP:0040283 - Occasional | | | 241 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | HP:0040283 - Occasional | | | 104 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | | | | 1 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | . | | | 6 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | | | | 1 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | TNRC6B CL E G H | 23112 | 29190 | OMIM:619243 | GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA | | | | | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | TP53 CL E G H | 7157 | 11998 | OMIM:114480 | Breast cancer | . | | | 911 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 911 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | TP53 CL E G H | 7157 | 11998 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 911 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040282 - Frequent | | | 911 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | TP53 CL E G H | 7157 | 11998 | OMIM:151623 | Li-Fraumeni syndrome | . | | | 911 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | | | | 140 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | | | | 140 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | TP63 CL E G H | 8626 | 15979 | ORPHA:978 | ADULT syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | TP63 CL E G H | 8626 | 15979 | ORPHA:978 | ADULT syndrome | | | | 140 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | . | | | 140 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | . | | | 140 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | | | | 140 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | TP63 CL E G H | 8626 | 15979 | OMIM:603543 | Limb-Mammary syndrome | | | | 140 | | |
HP:0000769 | HP:0100783 | Breast aplasia | 3 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | | | | 140 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | | | | 140 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | TRAF7 CL E G H | 84231 | 20456 | OMIM:618164 | Cardiac, facial, and digital anomalies with developmental delay | | | | | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | TTC5 CL E G H | 91875 | 19274 | OMIM:619244 | NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD | | | | | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | | | | 14 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | | | | 14 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 18 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | . | | | 7 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1231 | Barber-Say syndrome | | | | 7 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | | | | 7 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | | | | 7 | | |
HP:0000769 | HP:0100783 | Breast aplasia | 3 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1231 | Barber-Say syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | UBA2 CL E G H | 10054 | 30661 | OMIM:619959 | | | | | | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | | | | 25 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | | | | 27 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | | | | 27 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | | | | 20 | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | HP:0040283 - Occasional | | | 20 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | WASF1 CL E G H | 8936 | 12732 | OMIM:618707 | NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS | | | | | | |
HP:0000769 | HP:0003186 | Inverted nipples | 3 | WASF1 CL E G H | 8936 | 12732 | OMIM:618707 | NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS | | | | | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 10 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 10 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | | | | 95 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | WDR37 CL E G H | 22884 | 31406 | OMIM:618652 | NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS | | | | | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | WNT3 CL E G H | 7473 | 12782 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000769 | HP:0006709 | Aplasia/Hypoplasia of the nipples | 3 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | | | | 13 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040283 - Occasional | | | 310 | | |
HP:0000769 | HP:0003002 | Breast carcinoma | 3 | XRCC3 CL E G H | 7517 | 12830 | OMIM:114480 | Breast cancer | . | | | 2 | | |
HP:0000769 | HP:0003187 | Breast hypoplasia | 3 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | . | | | 362 | | |
HP:0000769 | HP:0002558 | Supernumerary nipple | 3 | ZMYND11 CL E G H | 10771 | 16966 | OMIM:616083 | Mental retardation, autosomal dominant 30 | | | | 24 | | |
HP:0000769 | HP:0040157 | Abnormal intermamillary distance | 3 | ZNF148 CL E G H | 7707 | 12933 | OMIM:617260 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | | | | 4 | | |
HP:0000769 | HP:0040158 | Short intermamillary distance | 4 | CL E G H | | | | | | | | | | |
HP:0000769 | HP:0006625 | Multifocal breast carcinoma | 4 | CL E G H | | | | | | | | | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | HP:0040283 - Occasional | | | 53 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | ALG14 CL E G H | 199857 | 28287 | OMIM:619036 | MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA | | | | 12 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | . | | | 93 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | . | | | 34 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | . | | | 8 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | . | | | 3 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | . | | | 1 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | . | | | 145 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 317 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | . | | | 317 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | . | | | | | |
HP:0000769 | HP:0002561 | Absent nipple | 4 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | HP:0040284 - Very rare | | | 2 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | HP:0040284 - Very rare | | | 2 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | CERT1 CL E G H | 10087 | 2205 | OMIM:616351 | Mental retardation, autosomal dominant 34 | . | | | | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 515 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | . | | | 68 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | . | | | | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | . | | | 52 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | COX7B CL E G H | 1349 | 2291 | OMIM:300887 | Linear skin defects with multiple congenital anomalies 2 | HP:0040283 - Occasional | | | 6 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | . | | | 101 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040282 - Frequent | | | 159 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 4 | | |
HP:0000769 | HP:0002561 | Absent nipple | 4 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0000769 | HP:0002561 | Absent nipple | 4 | EDARADD CL E G H | 128178 | 14341 | OMIM:614940 | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | HP:0040283 - Occasional | | | 56 | | |
HP:0000769 | HP:0002561 | Absent nipple | 4 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | HP:0040283 - Occasional | | | 56 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | EED CL E G H | 8726 | 3188 | OMIM:617561 | Cohen-Gibson syndrome | | | | 4 | | |
HP:0000769 | HP:0012813 | Unilateral breast hypoplasia | 4 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | . | | | 27 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | . | | | 199 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 17 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 172 | | |
HP:0000769 | HP:0002561 | Absent nipple | 4 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | HP:0040283 - Occasional | | | 353 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | . | | | 353 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | HP:0040283 - Occasional | | | 263 | | |
HP:0000769 | HP:0012814 | Bilateral breast hypoplasia | 4 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | HP:0040282 - Frequent | | | 23 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | . | | | 173 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 15 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 92 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | HP:0040283 - Occasional | | | 80 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | HNRNPK CL E G H | 3190 | 5044 | OMIM:616580 | Au-Kline syndrome | . | | | 8 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 8 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | IBA57 CL E G H | 200205 | 27302 | OMIM:615330 | Multiple mitochondrial dysfunctions syndrome 3 | . | | | 16 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | IGF1R CL E G H | 3480 | 5465 | ORPHA:73273 | Growth delay due to insulin-like growth factor I resistance | HP:0040282 - Frequent | | | 268 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | HP:0040284 - Very rare | | | 268 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | . | | | | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | . | | | 283 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | | | | 10 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | . | | | 9 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | . | | | | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 14 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | KRT10 CL E G H | 3858 | 6413 | OMIM:609165 | Erythroderma, ichthyosiform, congenital reticular | | | | 45 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | . | | | | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | HP:0040283 - Occasional | | | 4 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | . | | | 13 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | . | | | 13 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | HP:0040283 - Occasional | | | 39 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040284 - Very rare | | | 1952 | | |
HP:0000769 | HP:0012814 | Bilateral breast hypoplasia | 4 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | HP:0040282 - Frequent | | | 55 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 494 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 102 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | NUP188 CL E G H | 23511 | 17859 | OMIM:618804 | SANDESTIG-STEFANOVA SYNDROME; SANDSTEF | | | | 4 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | . | | | 201 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | | | | 24 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 9 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | PSAT1 CL E G H | 29968 | 19129 | OMIM:616038 | Neu-Laxova syndrome 2 | | | | 27 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 291 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | PTPRF CL E G H | 5792 | 9670 | OMIM:616001 | Breasts and/or nipples, aplasia or hypoplasia of, 2 | . | | | 1 | | |
HP:0000769 | HP:0002561 | Absent nipple | 4 | PTPRF CL E G H | 5792 | 9670 | OMIM:616001 | Breasts and/or nipples, aplasia or hypoplasia of, 2 | . | | | 1 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | . | | | 85 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 212 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000769 | HP:0002561 | Absent nipple | 4 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618021 | Tetraamelia syndrome 2 | | | | | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | . | | | | | |
HP:0000769 | HP:0002561 | Absent nipple | 4 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | . | | | | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:3051 | Nicolaides-Baraitser syndrome | HP:0040282 - Frequent | | | 146 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | . | | | 19 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | HP:0040284 - Very rare | | | 19 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 315 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 30 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 5 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | HP:0040283 - Occasional | | | 23 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | | | | 22 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | . | | | 100 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | HP:0040282 - Frequent | | | 100 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | | | | 1 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | . | | | 6 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | | | | 1 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | . | | | 140 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | TP63 CL E G H | 8626 | 15979 | ORPHA:978 | ADULT syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | . | | | 140 | | |
HP:0000769 | HP:0002561 | Absent nipple | 4 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | . | | | 140 | | |
HP:0000769 | HP:0002561 | Absent nipple | 4 | TP63 CL E G H | 8626 | 15979 | ORPHA:978 | ADULT syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |
HP:0000769 | HP:0002561 | Absent nipple | 4 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000769 | HP:0012814 | Bilateral breast hypoplasia | 4 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | TP63 CL E G H | 8626 | 15979 | OMIM:603543 | Limb-Mammary syndrome | . | | | 140 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | TRAF7 CL E G H | 84231 | 20456 | OMIM:618164 | Cardiac, facial, and digital anomalies with developmental delay | . | | | | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | TTC5 CL E G H | 91875 | 19274 | OMIM:619244 | NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD | | | | | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | . | | | 14 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | . | | | 14 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | | | | 7 | | |
HP:0000769 | HP:0002561 | Absent nipple | 4 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | . | | | 7 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1231 | Barber-Say syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | . | | | 7 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040282 - Frequent | | | 7 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | . | | | 25 | | |
HP:0000769 | HP:0012813 | Unilateral breast hypoplasia | 4 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | | | | 27 | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | HP:0040283 - Occasional | | | 27 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | WASF1 CL E G H | 8936 | 12732 | OMIM:618707 | NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS | | | | | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 10 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | WDR37 CL E G H | 22884 | 31406 | OMIM:618652 | NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS | | | | | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0000769 | HP:0002557 | Hypoplastic nipples | 4 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | . | | | 13 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0000769 | HP:0006610 | Wide intermamillary distance | 4 | ZNF148 CL E G H | 7707 | 12933 | OMIM:617260 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | | | | 4 | | |