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

 Sister Nodes: 
..expandAbnormal cellular phenotype (HP:0025354) help
..expandAbnormality of blood and blood-forming tissues (HP:0001871) help
..expandAbnormality of connective tissue (HP:0003549) help
..expandAbnormality of head or neck (HP:0000152) help
..expandAbnormality of limbs (HP:0040064) help
..expandAbnormality of metabolism/homeostasis (HP:0001939) help
..expandAbnormality of prenatal development or birth (HP:0001197) help
..expandAbnormality of the cardiovascular system (HP:0001626) help
..expandAbnormality of the digestive system (HP:0025031) help
..expandAbnormality of the ear (HP:0000598) help
..expandAbnormality of the endocrine system (HP:0000818) help
..expandAbnormality of the eye (HP:0000478) help
..expandAbnormality of the genitourinary system (HP:0000119) help
..expandAbnormality of the immune system (HP:0002715) help
..expandAbnormality of the integument (HP:0001574) help
..expandAbnormality of the musculature (HP:0003011) help
..expandAbnormality of the nervous system (HP:0000707) help
..expandAbnormality of the respiratory system (HP:0002086) help
..expandAbnormality of the skeletal system (HP:0000924) help
..expandAbnormality of the thoracic cavity (HP:0045027) help
..expandAbnormality of the voice (HP:0001608) help
..expandConstitutional symptom (HP:0025142) help
..expandGrowth abnormality (HP:0001507) help
..expandNeoplasm (HP:0002664) help
..expandobsolete Abnormal test result (HP:0500014) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000769HP:0000769Abnormality of the breast0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 17
HP:0000769HP:0000769Abnormality of the breast0ABCD4 CL E G H582668OMIM:614857Methylmalonic aciduria and homocystinuria, Cblj type53
HP:0000769HP:0000769Abnormality of the breast0ACD CL E G H6505725070ORPHA:618Familial melanoma11
HP:0000769HP:0000769Abnormality of the breast0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency120
HP:0000769HP:0000769Abnormality of the breast0ACTB CL E G H60132ORPHA:64755Becker nevus syndrome72
HP:0000769HP:0000769Abnormality of the breast0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0000769HP:0000769Abnormality of the breast0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0000769HP:0000769Abnormality of the breast0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0000769HP:0000769Abnormality of the breast0AIP CL E G H9049358OMIM:102200Pituitary adenoma, growth hormone-secreting, 195
HP:0000769HP:0000769Abnormality of the breast0AIP CL E G H9049358ORPHA:99725Pituitary gigantism95
HP:0000769HP:0000769Abnormality of the breast0AIP CL E G H9049358ORPHA:2965Prolactinoma95
HP:0000769HP:0000769Abnormality of the breast0AKT1 CL E G H207391OMIM:114480Breast cancer54
HP:0000769HP:0000769Abnormality of the breast0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0000769HP:0000769Abnormality of the breast0AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0000769HP:0000769Abnormality of the breast0AKT1 CL E G H207391OMIM:167000Ovarian cancer54
HP:0000769HP:0000769Abnormality of the breast0AKT2 CL E G H208392ORPHA:293964Hypoinsulinemic hypoglycemia and body hemihypertrophy12
HP:0000769HP:0000769Abnormality of the breast0AKT2 CL E G H208392OMIM:240900Hypoinsulinemic hypoglycemia with hemihypertrophy12
HP:0000769HP:0000769Abnormality of the breast0ALG11 CL E G H44013832456ORPHA:280071ALG11-CDG41
HP:0000769HP:0000769Abnormality of the breast0ALG11 CL E G H44013832456OMIM:613661Congenital disorder of glycosylation, type Ip41
HP:0000769HP:0000769Abnormality of the breast0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0000769HP:0000769Abnormality of the breast0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig68
HP:0000769HP:0000769Abnormality of the breast0ALG14 CL E G H19985728287OMIM:619036MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA12
HP:0000769HP:0000769Abnormality of the breast0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0000769HP:0000769Abnormality of the breast0ALG3 CL E G H1019523056ORPHA:79321ALG3-CDG37
HP:0000769HP:0000769Abnormality of the breast0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDG46
HP:0000769HP:0000769Abnormality of the breast0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0000769HP:0000769Abnormality of the breast0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il93
HP:0000769HP:0000769Abnormality of the breast0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0000769HP:0000769Abnormality of the breast0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome404
HP:0000769HP:0000769Abnormality of the breast0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0000769HP:0000769Abnormality of the breast0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0000769HP:0000769Abnormality of the breast0ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia65
HP:0000769HP:0000769Abnormality of the breast0ANOS1 CL E G H37306211ORPHA:478Kallmann syndrome65
HP:0000769HP:0000769Abnormality of the breast0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome8
HP:0000769HP:0000769Abnormality of the breast0APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0000769HP:0000769Abnormality of the breast0APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposis3179
HP:0000769HP:0000769Abnormality of the breast0APC CL E G H324583OMIM:135290Desmoid disease, hereditary3179
HP:0000769HP:0000769Abnormality of the breast0APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0000769HP:0000769Abnormality of the breast0AR CL E G H367644OMIM:300068Androgen insensitivity syndrome125
HP:0000769HP:0000769Abnormality of the breast0AR CL E G H367644ORPHA:481Kennedy disease125
HP:0000769HP:0000769Abnormality of the breast0AR CL E G H367644ORPHA:90797Partial androgen insensitivity syndrome125
HP:0000769HP:0000769Abnormality of the breast0AR CL E G H367644OMIM:312300Reifenstein syndrome125
HP:0000769HP:0000769Abnormality of the breast0AR CL E G H367644OMIM:313200Spinal and bulbar muscular atrophy, X-linked 1125
HP:0000769HP:0000769Abnormality of the breast0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay3
HP:0000769HP:0000769Abnormality of the breast0ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1147
HP:0000769HP:0000769Abnormality of the breast0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations1
HP:0000769HP:0000769Abnormality of the breast0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000769HP:0000769Abnormality of the breast0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome145
HP:0000769HP:0000769Abnormality of the breast0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000769HP:0000769Abnormality of the breast0ATM CL E G H472795OMIM:114480Breast cancer3267
HP:0000769HP:0000769Abnormality of the breast0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0000769HP:0000769Abnormality of the breast0ATR CL E G H545882OMIM:614564Cutaneous telangiectasia and cancer syndrome, familial168
HP:0000769HP:0000769Abnormality of the breast0AXIN2 CL E G H8313904OMIM:608615OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS435
HP:0000769HP:0000769Abnormality of the breast0AXL CL E G H558905OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0000769HP:0000769Abnormality of the breast0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0000769HP:0000769Abnormality of the breast0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0000769HP:0000769Abnormality of the breast0B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0000769HP:0000769Abnormality of the breast0BAP1 CL E G H8314950ORPHA:618Familial melanoma184
HP:0000769HP:0000769Abnormality of the breast0BARD1 CL E G H580952OMIM:114480Breast cancer790
HP:0000769HP:0000769Abnormality of the breast0BARD1 CL E G H580952ORPHA:145Hereditary breast and ovarian cancer syndrome790
HP:0000769HP:0000769Abnormality of the breast0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000769HP:0000769Abnormality of the breast0BLM CL E G H6411058ORPHA:125Bloom syndrome314
HP:0000769HP:0000769Abnormality of the breast0BMP15 CL E G H92101068ORPHA:24346,XX gonadal dysgenesis16
HP:0000769HP:0000769Abnormality of the breast0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1
HP:0000769HP:0000769Abnormality of the breast0BNC1 CL E G H6461081ORPHA:24346,XX gonadal dysgenesis
HP:0000769HP:0000769Abnormality of the breast0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0000769HP:0000769Abnormality of the breast0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0000769HP:0000769Abnormality of the breast0BRCA1 CL E G H6721100OMIM:114480Breast cancer5769
HP:0000769HP:0000769Abnormality of the breast0BRCA1 CL E G H6721100OMIM:604370Breast-Ovarian cancer, familial, susceptibility to, 15769
HP:0000769HP:0000769Abnormality of the breast0BRCA1 CL E G H6721100ORPHA:1333Familial pancreatic carcinoma5769
HP:0000769HP:0000769Abnormality of the breast0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S5769
HP:0000769HP:0000769Abnormality of the breast0BRCA1 CL E G H6721100ORPHA:145Hereditary breast and ovarian cancer syndrome5769
HP:0000769HP:0000769Abnormality of the breast0BRCA2 CL E G H6751101OMIM:114480Breast cancer7642
HP:0000769HP:0000769Abnormality of the breast0BRCA2 CL E G H6751101OMIM:612555Breast-Ovarian cancer, familial, susceptibility to, 27642
HP:0000769HP:0000769Abnormality of the breast0BRCA2 CL E G H6751101ORPHA:1333Familial pancreatic carcinoma7642
HP:0000769HP:0000769Abnormality of the breast0BRCA2 CL E G H6751101ORPHA:145Hereditary breast and ovarian cancer syndrome7642
HP:0000769HP:0000769Abnormality of the breast0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0000769HP:0000769Abnormality of the breast0BRIP1 CL E G H8399020473OMIM:114480Breast cancer1086
HP:0000769HP:0000769Abnormality of the breast0BRIP1 CL E G H8399020473ORPHA:145Hereditary breast and ovarian cancer syndrome1086
HP:0000769HP:0000769Abnormality of the breast0C18ORF32 CL E G H49766131690OMIM:619985
HP:0000769HP:0000769Abnormality of the breast0CACNA1C CL E G H7751390OMIM:620029572
HP:0000769HP:0000769Abnormality of the breast0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0000769HP:0000769Abnormality of the breast0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndrome87
HP:0000769HP:0000769Abnormality of the breast0CASP8 CL E G H8411509OMIM:114480Breast cancer37
HP:0000769HP:0000769Abnormality of the breast0CBL CL E G H8671541ORPHA:648Noonan syndrome317
HP:0000769HP:0000769Abnormality of the breast0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia317
HP:0000769HP:0000769Abnormality of the breast0CCDC141 CL E G H28502526821OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0000769HP:0000769Abnormality of the breast0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndrome
HP:0000769HP:0000769Abnormality of the breast0CCDC22 CL E G H2895228909ORPHA:73C syndrome33
HP:0000769HP:0000769Abnormality of the breast0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome
HP:0000769HP:0000769Abnormality of the breast0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndrome9
HP:0000769HP:0000769Abnormality of the breast0CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 79
HP:0000769HP:0000769Abnormality of the breast0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndrome31
HP:0000769HP:0000769Abnormality of the breast0CDH1 CL E G H9991748OMIM:114480Breast cancer1003
HP:0000769HP:0000769Abnormality of the breast0CDH1 CL E G H9991748OMIM:167000Ovarian cancer1003
HP:0000769HP:0000769Abnormality of the breast0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndrome2
HP:0000769HP:0000769Abnormality of the breast0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome2
HP:0000769HP:0000769Abnormality of the breast0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000769HP:0000769Abnormality of the breast0CDH23 CL E G H6407213733ORPHA:2965Prolactinoma636
HP:0000769HP:0000769Abnormality of the breast0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenoma636
HP:0000769HP:0000769Abnormality of the breast0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0000769HP:0000769Abnormality of the breast0CDK4 CL E G H10191773ORPHA:618Familial melanoma145
HP:0000769HP:0000769Abnormality of the breast0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0000769HP:0000769Abnormality of the breast0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0000769HP:0000769Abnormality of the breast0CDKN2A CL E G H10291787ORPHA:618Familial melanoma289
HP:0000769HP:0000769Abnormality of the breast0CDKN2A CL E G H10291787ORPHA:1333Familial pancreatic carcinoma289
HP:0000769HP:0000769Abnormality of the breast0CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndrome289
HP:0000769HP:0000769Abnormality of the breast0CDKN2B CL E G H10301788ORPHA:618Familial melanoma1
HP:0000769HP:0000769Abnormality of the breast0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0000769HP:0000769Abnormality of the breast0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0000769HP:0000769Abnormality of the breast0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndrome50
HP:0000769HP:0000769Abnormality of the breast0CDT1 CL E G H8162024576OMIM:613804Meier-Gorlin syndrome 450
HP:0000769HP:0000769Abnormality of the breast0CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34
HP:0000769HP:0000769Abnormality of the breast0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0000769HP:0000769Abnormality of the breast0CHD7 CL E G H5563620626ORPHA:478Kallmann syndrome515
HP:0000769HP:0000769Abnormality of the breast0CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadism515
HP:0000769HP:0000769Abnormality of the breast0CHEK2 CL E G H1120016627OMIM:114480Breast cancer833
HP:0000769HP:0000769Abnormality of the breast0CHEK2 CL E G H1120016627ORPHA:145Hereditary breast and ovarian cancer syndrome833
HP:0000769HP:0000769Abnormality of the breast0CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndrome833
HP:0000769HP:0000769Abnormality of the breast0CHEK2 CL E G H1120016627OMIM:609265LI-FRAUMENI SYNDROME 2; LFS2833
HP:0000769HP:0000769Abnormality of the breast0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0000769HP:0000769Abnormality of the breast0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0000769HP:0000769Abnormality of the breast0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000769HP:0000769Abnormality of the breast0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndrome7
HP:0000769HP:0000769Abnormality of the breast0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0000769HP:0000769Abnormality of the breast0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe64
HP:0000769HP:0000769Abnormality of the breast0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 12
HP:0000769HP:0000769Abnormality of the breast0COLEC10 CL E G H105842220ORPHA:2938433MC syndrome3
HP:0000769HP:0000769Abnormality of the breast0COLEC11 CL E G H7898917213ORPHA:2938433MC syndrome9
HP:0000769HP:0000769Abnormality of the breast0COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiency136
HP:0000769HP:0000769Abnormality of the breast0COX7B CL E G H13492291OMIM:300887Linear skin defects with multiple congenital anomalies 26
HP:0000769HP:0000769Abnormality of the breast0CPE CL E G H13632303OMIM:619326BDV SYNDROME; BDVS
HP:0000769HP:0000769Abnormality of the breast0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0000769HP:0000769Abnormality of the breast0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0000769HP:0000769Abnormality of the breast0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy57
HP:0000769HP:0000769Abnormality of the breast0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0000769HP:0000769Abnormality of the breast0CTNNB1 CL E G H14992514OMIM:167000Ovarian cancer88
HP:0000769HP:0000769Abnormality of the breast0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0000769HP:0000769Abnormality of the breast0CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency2
HP:0000769HP:0000769Abnormality of the breast0CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency31
HP:0000769HP:0000769Abnormality of the breast0CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency31
HP:0000769HP:0000769Abnormality of the breast0CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency112
HP:0000769HP:0000769Abnormality of the breast0CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency53
HP:0000769HP:0000769Abnormality of the breast0CYP17A1 CL E G H15862593OMIM:202110Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency53
HP:0000769HP:0000769Abnormality of the breast0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency53
HP:0000769HP:0000769Abnormality of the breast0CYP19A1 CL E G H15882594OMIM:139300Aromatase excess syndrome60
HP:0000769HP:0000769Abnormality of the breast0CYP21A2 CL E G H15892600OMIM:201910Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency86
HP:0000769HP:0000769Abnormality of the breast0DCC CL E G H16302701ORPHA:478Kallmann syndrome36
HP:0000769HP:0000769Abnormality of the breast0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000769HP:0000769Abnormality of the breast0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0000769HP:0000769Abnormality of the breast0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0000769HP:0000769Abnormality of the breast0DHODH CL E G H17232867ORPHA:246Postaxial acrofacial dysostosis59
HP:0000769HP:0000769Abnormality of the breast0DHODH CL E G H17232867OMIM:263750Postaxial acrofacial dysostosis59
HP:0000769HP:0000769Abnormality of the breast0DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0000769HP:0000769Abnormality of the breast0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0000769HP:0000769Abnormality of the breast0DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesis1
HP:0000769HP:0000769Abnormality of the breast0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij38
HP:0000769HP:0000769Abnormality of the breast0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDG38
HP:0000769HP:0000769Abnormality of the breast0DPM1 CL E G H88133005ORPHA:79322DPM1-CDG27
HP:0000769HP:0000769Abnormality of the breast0DUSP6 CL E G H18483072OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia4
HP:0000769HP:0000769Abnormality of the breast0DUSP6 CL E G H18483072ORPHA:478Kallmann syndrome4
HP:0000769HP:0000769Abnormality of the breast0DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadism4
HP:0000769HP:0000769Abnormality of the breast0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0000769HP:0000769Abnormality of the breast0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000769HP:0000769Abnormality of the breast0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked115
HP:0000769HP:0000769Abnormality of the breast0EDARADD CL E G H12817814341OMIM:614940Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant56
HP:0000769HP:0000769Abnormality of the breast0EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive56
HP:0000769HP:0000769Abnormality of the breast0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome4
HP:0000769HP:0000769Abnormality of the breast0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasia27
HP:0000769HP:0000769Abnormality of the breast0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome27
HP:0000769HP:0000769Abnormality of the breast0ERBB2 CL E G H20643430OMIM:167000Ovarian cancer77
HP:0000769HP:0000769Abnormality of the breast0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0000769HP:0000769Abnormality of the breast0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0000769HP:0000769Abnormality of the breast0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0000769HP:0000769Abnormality of the breast0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndrome36
HP:0000769HP:0000769Abnormality of the breast0ESR1 CL E G H20993467OMIM:114480Breast cancer13
HP:0000769HP:0000769Abnormality of the breast0ESR1 CL E G H20993467ORPHA:785Estrogen resistance syndrome13
HP:0000769HP:0000769Abnormality of the breast0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0000769HP:0000769Abnormality of the breast0EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0000769HP:0000769Abnormality of the breast0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndrome59
HP:0000769HP:0000769Abnormality of the breast0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndrome37
HP:0000769HP:0000769Abnormality of the breast0FEZF1 CL E G H38954922788OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia2
HP:0000769HP:0000769Abnormality of the breast0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndrome2
HP:0000769HP:0000769Abnormality of the breast0FGF17 CL E G H88223673OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia3
HP:0000769HP:0000769Abnormality of the breast0FGF17 CL E G H88223673ORPHA:478Kallmann syndrome3
HP:0000769HP:0000769Abnormality of the breast0FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadism3
HP:0000769HP:0000769Abnormality of the breast0FGF8 CL E G H22533686ORPHA:478Kallmann syndrome17
HP:0000769HP:0000769Abnormality of the breast0FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadism17
HP:0000769HP:0000769Abnormality of the breast0FGFR1 CL E G H22603688OMIM:147950Hypogonadotropic hypogonadism 2 with or without anosmia172
HP:0000769HP:0000769Abnormality of the breast0FGFR1 CL E G H22603688ORPHA:478Kallmann syndrome172
HP:0000769HP:0000769Abnormality of the breast0FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadism172
HP:0000769HP:0000769Abnormality of the breast0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0000769HP:0000769Abnormality of the breast0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0000769HP:0000769Abnormality of the breast0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0000769HP:0000769Abnormality of the breast0FLRT3 CL E G H237673762ORPHA:478Kallmann syndrome4
HP:0000769HP:0000769Abnormality of the breast0FMR1 CL E G H23323775ORPHA:261483Xq27.3q28 duplication syndrome30
HP:0000769HP:0000769Abnormality of the breast0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic forms
HP:0000769HP:0000769Abnormality of the breast0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome353
HP:0000769HP:0000769Abnormality of the breast0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndrome353
HP:0000769HP:0000769Abnormality of the breast0FREM2 CL E G H34164025396ORPHA:2052Fraser syndrome263
HP:0000769HP:0000769Abnormality of the breast0FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiency23
HP:0000769HP:0000769Abnormality of the breast0FSHR CL E G H24923969ORPHA:24346,XX gonadal dysgenesis50
HP:0000769HP:0000769Abnormality of the breast0GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesis87
HP:0000769HP:0000769Abnormality of the breast0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndrome87
HP:0000769HP:0000769Abnormality of the breast0GDF11 CL E G H102204216OMIM:619122VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000769HP:0000769Abnormality of the breast0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic forms173
HP:0000769HP:0000769Abnormality of the breast0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndrome3
HP:0000769HP:0000769Abnormality of the breast0GNAS CL E G H27784392ORPHA:562McCune-Albright syndrome101
HP:0000769HP:0000769Abnormality of the breast0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000769HP:0000769Abnormality of the breast0GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0000769HP:0000769Abnormality of the breast0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0000769HP:0000769Abnormality of the breast0GNRH1 CL E G H27964419OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia15
HP:0000769HP:0000769Abnormality of the breast0GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadism15
HP:0000769HP:0000769Abnormality of the breast0GNRHR CL E G H27984421OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia92
HP:0000769HP:0000769Abnormality of the breast0GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadism92
HP:0000769HP:0000769Abnormality of the breast0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0000769HP:0000769Abnormality of the breast0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000769HP:0000769Abnormality of the breast0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0000769HP:0000769Abnormality of the breast0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000769HP:0000769Abnormality of the breast0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0000769HP:0000769Abnormality of the breast0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndrome80
HP:0000769HP:0000769Abnormality of the breast0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0000769HP:0000769Abnormality of the breast0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0000769HP:0000769Abnormality of the breast0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000769HP:0000769Abnormality of the breast0H4C9 CL E G H82944793OMIM:619951
HP:0000769HP:0000769Abnormality of the breast0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndrome33
HP:0000769HP:0000769Abnormality of the breast0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0000769HP:0000769Abnormality of the breast0HDAC8 CL E G H5586913315ORPHA:3459Wilson-Turner syndrome37
HP:0000769HP:0000769Abnormality of the breast0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic forms21
HP:0000769HP:0000769Abnormality of the breast0HESX1 CL E G H88204877ORPHA:478Kallmann syndrome21
HP:0000769HP:0000769Abnormality of the breast0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 138
HP:0000769HP:0000769Abnormality of the breast0HMMR CL E G H31615012OMIM:114480Breast cancer
HP:0000769HP:0000769Abnormality of the breast0HNRNPK CL E G H31905044OMIM:616580Au-Kline syndrome8
HP:0000769HP:0000769Abnormality of the breast0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0000769HP:0000769Abnormality of the breast0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0000769HP:0000769Abnormality of the breast0HPGD CL E G H32485154ORPHA:2796Pachydermoperiostosis55
HP:0000769HP:0000769Abnormality of the breast0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000769HP:0000769Abnormality of the breast0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndrome8
HP:0000769HP:0000769Abnormality of the breast0HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadism8
HP:0000769HP:0000769Abnormality of the breast0HSD17B3 CL E G H32935212ORPHA:75246,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency31
HP:0000769HP:0000769Abnormality of the breast0HSD17B3 CL E G H32935212OMIM:264300Pseudohermaphroditism, male, with gynecomastia31
HP:0000769HP:0000769Abnormality of the breast0HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency34
HP:0000769HP:0000769Abnormality of the breast0IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 316
HP:0000769HP:0000769Abnormality of the breast0IDH1 CL E G H34175382ORPHA:163634Maffucci syndrome15
HP:0000769HP:0000769Abnormality of the breast0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0000769HP:0000769Abnormality of the breast0IDH2 CL E G H34185383ORPHA:163634Maffucci syndrome29
HP:0000769HP:0000769Abnormality of the breast0IGF1R CL E G H34805465ORPHA:73273Growth delay due to insulin-like growth factor I resistance268
HP:0000769HP:0000769Abnormality of the breast0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to268
HP:0000769HP:0000769Abnormality of the breast0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti52
HP:0000769HP:0000769Abnormality of the breast0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmenti52
HP:0000769HP:0000769Abnormality of the breast0IL17RD CL E G H5475617616ORPHA:478Kallmann syndrome9
HP:0000769HP:0000769Abnormality of the breast0INSR CL E G H36436091OMIM:246200Donohue syndrome229
HP:0000769HP:0000769Abnormality of the breast0INSR CL E G H36436091ORPHA:508Leprechaunism229
HP:0000769HP:0000769Abnormality of the breast0INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000769HP:0000769Abnormality of the breast0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000769HP:0000769Abnormality of the breast0IRF4 CL E G H36626119ORPHA:3452Whipple disease1
HP:0000769HP:0000769Abnormality of the breast0ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital6
HP:0000769HP:0000769Abnormality of the breast0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0000769HP:0000769Abnormality of the breast0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000769HP:0000769Abnormality of the breast0KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly10
HP:0000769HP:0000769Abnormality of the breast0KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndrome11
HP:0000769HP:0000769Abnormality of the breast0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome11
HP:0000769HP:0000769Abnormality of the breast0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0000769HP:0000769Abnormality of the breast0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0000769HP:0000769Abnormality of the breast0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 652
HP:0000769HP:0000769Abnormality of the breast0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0000769HP:0000769Abnormality of the breast0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities9
HP:0000769HP:0000769Abnormality of the breast0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy24
HP:0000769HP:0000769Abnormality of the breast0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0000769HP:0000769Abnormality of the breast0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome
HP:0000769HP:0000769Abnormality of the breast0KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadism3
HP:0000769HP:0000769Abnormality of the breast0KISS1R CL E G H846344510OMIM:614837Hypogonadotropic hypogonadism 8 with or without anosmia14
HP:0000769HP:0000769Abnormality of the breast0KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadism14
HP:0000769HP:0000769Abnormality of the breast0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0000769HP:0000769Abnormality of the breast0KLLN CL E G H10014474837212OMIM:615107Cowden syndrome 41
HP:0000769HP:0000769Abnormality of the breast0KMT2B CL E G H975715840OMIM:61993411
HP:0000769HP:0000769Abnormality of the breast0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0000769HP:0000769Abnormality of the breast0KRAS CL E G H38456407OMIM:114480Breast cancer196
HP:0000769HP:0000769Abnormality of the breast0KRAS CL E G H38456407ORPHA:1333Familial pancreatic carcinoma196
HP:0000769HP:0000769Abnormality of the breast0KRAS CL E G H38456407ORPHA:648Noonan syndrome196
HP:0000769HP:0000769Abnormality of the breast0KRAS CL E G H38456407OMIM:600268Oculoectodermal syndrome196
HP:0000769HP:0000769Abnormality of the breast0KRT10 CL E G H38586413OMIM:609165Erythroderma, ichthyosiform, congenital reticular45
HP:0000769HP:0000769Abnormality of the breast0LAMA5 CL E G H39116485OMIM:6200765
HP:0000769HP:0000769Abnormality of the breast0LAS1L CL E G H8188725726ORPHA:3459Wilson-Turner syndrome8
HP:0000769HP:0000769Abnormality of the breast0LAS1L CL E G H8188725726OMIM:309585WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS8
HP:0000769HP:0000769Abnormality of the breast0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0000769HP:0000769Abnormality of the breast0LEP CL E G H39526553OMIM:614962Leptin deficiency or dysfunction47
HP:0000769HP:0000769Abnormality of the breast0LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiency47
HP:0000769HP:0000769Abnormality of the breast0LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiency46
HP:0000769HP:0000769Abnormality of the breast0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndrome2
HP:0000769HP:0000769Abnormality of the breast0LHB CL E G H39726584OMIM:228300Hypogonadotropic hypogonadism 23 without anosmia9
HP:0000769HP:0000769Abnormality of the breast0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic forms43
HP:0000769HP:0000769Abnormality of the breast0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0000769HP:0000769Abnormality of the breast0LMNA CL E G H40006636ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophy645
HP:0000769HP:0000769Abnormality of the breast0LZTR1 CL E G H82166742ORPHA:648Noonan syndrome43
HP:0000769HP:0000769Abnormality of the breast0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0000769HP:0000769Abnormality of the breast0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000769HP:0000769Abnormality of the breast0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0000769HP:0000769Abnormality of the breast0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndrome21
HP:0000769HP:0000769Abnormality of the breast0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0000769HP:0000769Abnormality of the breast0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0000769HP:0000769Abnormality of the breast0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0000769HP:0000769Abnormality of the breast0MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesis13
HP:0000769HP:0000769Abnormality of the breast0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0000769HP:0000769Abnormality of the breast0MASP1 CL E G H56486901ORPHA:2938433MC syndrome21
HP:0000769HP:0000769Abnormality of the breast0MASP1 CL E G H56486901OMIM:2579203mc syndrome 121
HP:0000769HP:0000769Abnormality of the breast0MBD4 CL E G H89306919OMIM:6199751
HP:0000769HP:0000769Abnormality of the breast0MC1R CL E G H41576929ORPHA:618Familial melanoma124
HP:0000769HP:0000769Abnormality of the breast0MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 514
HP:0000769HP:0000769Abnormality of the breast0MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndrome1
HP:0000769HP:0000769Abnormality of the breast0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0000769HP:0000769Abnormality of the breast0MEFV CL E G H42106998ORPHA:3243Sweet syndrome281
HP:0000769HP:0000769Abnormality of the breast0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0000769HP:0000769Abnormality of the breast0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0000769HP:0000769Abnormality of the breast0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0000769HP:0000769Abnormality of the breast0MEN1 CL E G H42217010ORPHA:99725Pituitary gigantism462
HP:0000769HP:0000769Abnormality of the breast0MEN1 CL E G H42217010ORPHA:2965Prolactinoma462
HP:0000769HP:0000769Abnormality of the breast0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDG39
HP:0000769HP:0000769Abnormality of the breast0MGMT CL E G H42557059ORPHA:618Familial melanoma3
HP:0000769HP:0000769Abnormality of the breast0MITF CL E G H42867105ORPHA:618Familial melanoma91
HP:0000769HP:0000769Abnormality of the breast0MLH1 CL E G H42927127ORPHA:587Muir-Torre syndrome1819
HP:0000769HP:0000769Abnormality of the breast0MLH1 CL E G H42927127OMIM:158320Muir-Torre syndrome1819
HP:0000769HP:0000769Abnormality of the breast0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0000769HP:0000769Abnormality of the breast0MRAS CL E G H228087227ORPHA:648Noonan syndrome
HP:0000769HP:0000769Abnormality of the breast0MRE11 CL E G H43617230ORPHA:145Hereditary breast and ovarian cancer syndrome532
HP:0000769HP:0000769Abnormality of the breast0MRPS22 CL E G H5694514508ORPHA:24346,XX gonadal dysgenesis25
HP:0000769HP:0000769Abnormality of the breast0MSH2 CL E G H44367325ORPHA:587Muir-Torre syndrome2162
HP:0000769HP:0000769Abnormality of the breast0MSH2 CL E G H44367325OMIM:158320Muir-Torre syndrome2162
HP:0000769HP:0000769Abnormality of the breast0MSH6 CL E G H29567329ORPHA:587Muir-Torre syndrome2232
HP:0000769HP:0000769Abnormality of the breast0MTX2 CL E G H106517506ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophy
HP:0000769HP:0000769Abnormality of the breast0NBN CL E G H46837652ORPHA:145Hereditary breast and ovarian cancer syndrome706
HP:0000769HP:0000769Abnormality of the breast0NDNF CL E G H7962526256ORPHA:478Kallmann syndrome
HP:0000769HP:0000769Abnormality of the breast0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0000769HP:0000769Abnormality of the breast0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndrome
HP:0000769HP:0000769Abnormality of the breast0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0000769HP:0000769Abnormality of the breast0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndrome40
HP:0000769HP:0000769Abnormality of the breast0NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber type55
HP:0000769HP:0000769Abnormality of the breast0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0000769HP:0000769Abnormality of the breast0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0000769HP:0000769Abnormality of the breast0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0000769HP:0000769Abnormality of the breast0NQO2 CL E G H48357856OMIM:114480Breast cancer
HP:0000769HP:0000769Abnormality of the breast0NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesis48
HP:0000769HP:0000769Abnormality of the breast0NR5A1 CL E G H25167983ORPHA:24346,XX gonadal dysgenesis38
HP:0000769HP:0000769Abnormality of the breast0NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesis38
HP:0000769HP:0000769Abnormality of the breast0NRAS CL E G H48937989ORPHA:648Noonan syndrome102
HP:0000769HP:0000769Abnormality of the breast0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0000769HP:0000769Abnormality of the breast0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndrome118
HP:0000769HP:0000769Abnormality of the breast0NSMF CL E G H2601229843OMIM:614838Hypogonadotropic hypogonadism 9 with or without anosmia6
HP:0000769HP:0000769Abnormality of the breast0NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadism6
HP:0000769HP:0000769Abnormality of the breast0NTHL1 CL E G H49138028OMIM:616415Familial adenomatous polyposis 32
HP:0000769HP:0000769Abnormality of the breast0NTHL1 CL E G H49138028ORPHA:454840NTHL1-related attenuated familial adenomatous polyposis2
HP:0000769HP:0000769Abnormality of the breast0NUP107 CL E G H5712229914ORPHA:24346,XX gonadal dysgenesis5
HP:0000769HP:0000769Abnormality of the breast0NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0000769HP:0000769Abnormality of the breast0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2201
HP:0000769HP:0000769Abnormality of the breast0OPCML CL E G H49788143OMIM:167000Ovarian cancer5
HP:0000769HP:0000769Abnormality of the breast0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndrome53
HP:0000769HP:0000769Abnormality of the breast0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0000769HP:0000769Abnormality of the breast0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndrome21
HP:0000769HP:0000769Abnormality of the breast0ORC4 CL E G H50008490OMIM:613800Meier-Gorlin syndrome 221
HP:0000769HP:0000769Abnormality of the breast0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndrome39
HP:0000769HP:0000769Abnormality of the breast0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 339
HP:0000769HP:0000769Abnormality of the breast0OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic forms41
HP:0000769HP:0000769Abnormality of the breast0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome24
HP:0000769HP:0000769Abnormality of the breast0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome24
HP:0000769HP:0000769Abnormality of the breast0PALB2 CL E G H7972826144OMIM:114480Breast cancer1349
HP:0000769HP:0000769Abnormality of the breast0PALB2 CL E G H7972826144ORPHA:1333Familial pancreatic carcinoma1349
HP:0000769HP:0000769Abnormality of the breast0PALB2 CL E G H7972826144ORPHA:145Hereditary breast and ovarian cancer syndrome1349
HP:0000769HP:0000769Abnormality of the breast0PALLD CL E G H2302217068ORPHA:1333Familial pancreatic carcinoma192
HP:0000769HP:0000769Abnormality of the breast0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0000769HP:0000769Abnormality of the breast0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0000769HP:0000769Abnormality of the breast0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0000769HP:0000769Abnormality of the breast0PEX3 CL E G H85048858OMIM:617370Peroxisome biogenesis disorder 10B47
HP:0000769HP:0000769Abnormality of the breast0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndrome8
HP:0000769HP:0000769Abnormality of the breast0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndrome20
HP:0000769HP:0000769Abnormality of the breast0PHB1 CL E G H52458912OMIM:114480Breast cancer
HP:0000769HP:0000769Abnormality of the breast0PHF6 CL E G H8429518145ORPHA:127Borjeson-Forssman-Lehmann syndrome29
HP:0000769HP:0000769Abnormality of the breast0PHF6 CL E G H8429518145OMIM:301900Borjeson-Forssman-Lehmann syndrome29
HP:0000769HP:0000769Abnormality of the breast0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndrome7
HP:0000769HP:0000769Abnormality of the breast0PIGL CL E G H94878966ORPHA:3474CHIME syndrome36
HP:0000769HP:0000769Abnormality of the breast0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndrome36
HP:0000769HP:0000769Abnormality of the breast0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome36
HP:0000769HP:0000769Abnormality of the breast0PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0000769HP:0000769Abnormality of the breast0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndrome84
HP:0000769HP:0000769Abnormality of the breast0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome12
HP:0000769HP:0000769Abnormality of the breast0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 312
HP:0000769HP:0000769Abnormality of the breast0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndrome57
HP:0000769HP:0000769Abnormality of the breast0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndrome6
HP:0000769HP:0000769Abnormality of the breast0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndrome2
HP:0000769HP:0000769Abnormality of the breast0PIK3CA CL E G H52908975OMIM:114480Breast cancer162
HP:0000769HP:0000769Abnormality of the breast0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0000769HP:0000769Abnormality of the breast0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5162
HP:0000769HP:0000769Abnormality of the breast0PIK3CA CL E G H52908975OMIM:167000Ovarian cancer162
HP:0000769HP:0000769Abnormality of the breast0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0000769HP:0000769Abnormality of the breast0PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0000769HP:0000769Abnormality of the breast0PMM2 CL E G H53739115ORPHA:79318PMM2-CDG150
HP:0000769HP:0000769Abnormality of the breast0PNPLA6 CL E G H1090816268ORPHA:1173Cerebellar ataxia-hypogonadism syndrome103
HP:0000769HP:0000769Abnormality of the breast0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10
HP:0000769HP:0000769Abnormality of the breast0POLD1 CL E G H54249175ORPHA:447877Polymerase proofreading-related adenomatous polyposis731
HP:0000769HP:0000769Abnormality of the breast0POLE CL E G H54269177ORPHA:447877Polymerase proofreading-related adenomatous polyposis1129
HP:0000769HP:0000769Abnormality of the breast0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0000769HP:0000769Abnormality of the breast0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0000769HP:0000769Abnormality of the breast0POLR3H CL E G H17156830349ORPHA:24346,XX gonadal dysgenesis
HP:0000769HP:0000769Abnormality of the breast0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0000769HP:0000769Abnormality of the breast0POT1 CL E G H2591317284ORPHA:618Familial melanoma23
HP:0000769HP:0000769Abnormality of the breast0POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic forms36
HP:0000769HP:0000769Abnormality of the breast0PPM1D CL E G H84939277OMIM:114480Breast cancer22
HP:0000769HP:0000769Abnormality of the breast0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0000769HP:0000769Abnormality of the breast0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome10
HP:0000769HP:0000769Abnormality of the breast0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0000769HP:0000769Abnormality of the breast0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0000769HP:0000769Abnormality of the breast0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0000769HP:0000769Abnormality of the breast0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndrome10
HP:0000769HP:0000769Abnormality of the breast0PRKN CL E G H50718607OMIM:167000Ovarian cancer138
HP:0000769HP:0000769Abnormality of the breast0PRLR CL E G H56189446ORPHA:397685Familial hyperprolactinemia2
HP:0000769HP:0000769Abnormality of the breast0PRLR CL E G H56189446OMIM:615555HYPERPROLACTINEMIA2
HP:0000769HP:0000769Abnormality of the breast0PRLR CL E G H56189446OMIM:615554MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB2
HP:0000769HP:0000769Abnormality of the breast0PROK2 CL E G H6067518455ORPHA:478Kallmann syndrome9
HP:0000769HP:0000769Abnormality of the breast0PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadism9
HP:0000769HP:0000769Abnormality of the breast0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndrome34
HP:0000769HP:0000769Abnormality of the breast0PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadism34
HP:0000769HP:0000769Abnormality of the breast0PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic forms54
HP:0000769HP:0000769Abnormality of the breast0PROP1 CL E G H56269455ORPHA:90695Non-acquired panhypopituitarism54
HP:0000769HP:0000769Abnormality of the breast0PSAT1 CL E G H2996819129OMIM:616038Neu-Laxova syndrome 227
HP:0000769HP:0000769Abnormality of the breast0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0000769HP:0000769Abnormality of the breast0PSMC3IP CL E G H2989317928ORPHA:24346,XX gonadal dysgenesis2
HP:0000769HP:0000769Abnormality of the breast0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndrome948
HP:0000769HP:0000769Abnormality of the breast0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0000769HP:0000769Abnormality of the breast0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1948
HP:0000769HP:0000769Abnormality of the breast0PTEN CL E G H57289588ORPHA:145Hereditary breast and ovarian cancer syndrome948
HP:0000769HP:0000769Abnormality of the breast0PTEN CL E G H57289588ORPHA:65285Lhermitte-Duclos disease948
HP:0000769HP:0000769Abnormality of the breast0PTEN CL E G H57289588ORPHA:137608Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome948
HP:0000769HP:0000769Abnormality of the breast0PTPN11 CL E G H57819644ORPHA:648Noonan syndrome291
HP:0000769HP:0000769Abnormality of the breast0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0000769HP:0000769Abnormality of the breast0PTPRF CL E G H57929670OMIM:616001Breasts and/or nipples, aplasia or hypoplasia of, 21
HP:0000769HP:0000769Abnormality of the breast0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0000769HP:0000769Abnormality of the breast0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0000769HP:0000769Abnormality of the breast0RABL3 CL E G H28528218072ORPHA:1333Familial pancreatic carcinoma
HP:0000769HP:0000769Abnormality of the breast0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0000769HP:0000769Abnormality of the breast0RAD50 CL E G H101119816ORPHA:145Hereditary breast and ovarian cancer syndrome789
HP:0000769HP:0000769Abnormality of the breast0RAD51 CL E G H58889817OMIM:114480Breast cancer9
HP:0000769HP:0000769Abnormality of the breast0RAD51 CL E G H58889817ORPHA:145Hereditary breast and ovarian cancer syndrome9
HP:0000769HP:0000769Abnormality of the breast0RAD51C CL E G H58899820OMIM:613399BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3; BROVCA3391
HP:0000769HP:0000769Abnormality of the breast0RAD51C CL E G H58899820ORPHA:145Hereditary breast and ovarian cancer syndrome391
HP:0000769HP:0000769Abnormality of the breast0RAD51D CL E G H58929823ORPHA:145Hereditary breast and ovarian cancer syndrome345
HP:0000769HP:0000769Abnormality of the breast0RAD54L CL E G H84389826OMIM:114480Breast cancer5
HP:0000769HP:0000769Abnormality of the breast0RAF1 CL E G H58949829ORPHA:648Noonan syndrome212
HP:0000769HP:0000769Abnormality of the breast0RASA2 CL E G H59229872ORPHA:648Noonan syndrome3
HP:0000769HP:0000769Abnormality of the breast0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndrome
HP:0000769HP:0000769Abnormality of the breast0RB1CC1 CL E G H982115574OMIM:114480Breast cancer2
HP:0000769HP:0000769Abnormality of the breast0RBM28 CL E G H5513121863OMIM:612079Alopecia, neurologic defects, and endocrinopathy syndrome1
HP:0000769HP:0000769Abnormality of the breast0RBM28 CL E G H5513121863ORPHA:157954ANE syndrome1
HP:0000769HP:0000769Abnormality of the breast0RELA CL E G H59709955ORPHA:251636Ependymoma1
HP:0000769HP:0000769Abnormality of the breast0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0000769HP:0000769Abnormality of the breast0REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0000769HP:0000769Abnormality of the breast0RFT1 CL E G H9186930220OMIM:612015Congenital disorder of glycosylation, type IN92
HP:0000769HP:0000769Abnormality of the breast0RFT1 CL E G H9186930220ORPHA:244310RFT1-CDG92
HP:0000769HP:0000769Abnormality of the breast0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0000769HP:0000769Abnormality of the breast0RIT1 CL E G H601610023ORPHA:648Noonan syndrome39
HP:0000769HP:0000769Abnormality of the breast0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0000769HP:0000769Abnormality of the breast0RNF216 CL E G H5447621698ORPHA:1173Cerebellar ataxia-hypogonadism syndrome10
HP:0000769HP:0000769Abnormality of the breast0RNF43 CL E G H5489418505ORPHA:157798Serrated polyposis syndrome5
HP:0000769HP:0000769Abnormality of the breast0RRAS CL E G H623710447ORPHA:648Noonan syndrome
HP:0000769HP:0000769Abnormality of the breast0RRAS2 CL E G H2280017271ORPHA:648Noonan syndrome1
HP:0000769HP:0000769Abnormality of the breast0RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal3
HP:0000769HP:0000769Abnormality of the breast0RSPO2 CL E G H34041928583OMIM:618021Tetraamelia syndrome 2
HP:0000769HP:0000769Abnormality of the breast0RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndrome
HP:0000769HP:0000769Abnormality of the breast0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000769HP:0000769Abnormality of the breast0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0000769HP:0000769Abnormality of the breast0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0000769HP:0000769Abnormality of the breast0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0000769HP:0000769Abnormality of the breast0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0000769HP:0000769Abnormality of the breast0SEC23B CL E G H1048310702OMIM:616858Cowden syndrome 760
HP:0000769HP:0000769Abnormality of the breast0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndrome14
HP:0000769HP:0000769Abnormality of the breast0SEMA3E CL E G H972310727OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia16
HP:0000769HP:0000769Abnormality of the breast0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0000769HP:0000769Abnormality of the breast0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome143
HP:0000769HP:0000769Abnormality of the breast0SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndrome134
HP:0000769HP:0000769Abnormality of the breast0SLC22A18 CL E G H500210964OMIM:114480Breast cancer3
HP:0000769HP:0000769Abnormality of the breast0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0000769HP:0000769Abnormality of the breast0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0000769HP:0000769Abnormality of the breast0SLC29A3 CL E G H5531523096ORPHA:168569H syndrome68
HP:0000769HP:0000769Abnormality of the breast0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0000769HP:0000769Abnormality of the breast0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDG27
HP:0000769HP:0000769Abnormality of the breast0SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome12
HP:0000769HP:0000769Abnormality of the breast0SLCO2A1 CL E G H657810955ORPHA:2796Pachydermoperiostosis13
HP:0000769HP:0000769Abnormality of the breast0SMAD4 CL E G H40896770ORPHA:1333Familial pancreatic carcinoma504
HP:0000769HP:0000769Abnormality of the breast0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndrome146
HP:0000769HP:0000769Abnormality of the breast0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0000769HP:0000769Abnormality of the breast0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0000769HP:0000769Abnormality of the breast0SMCHD1 CL E G H2334729090ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome174
HP:0000769HP:0000769Abnormality of the breast0SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0000769HP:0000769Abnormality of the breast0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type19
HP:0000769HP:0000769Abnormality of the breast0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder type19
HP:0000769HP:0000769Abnormality of the breast0SOS1 CL E G H665411187ORPHA:648Noonan syndrome315
HP:0000769HP:0000769Abnormality of the breast0SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4315
HP:0000769HP:0000769Abnormality of the breast0SOS2 CL E G H665511188ORPHA:648Noonan syndrome30
HP:0000769HP:0000769Abnormality of the breast0SOX10 CL E G H666311190ORPHA:478Kallmann syndrome61
HP:0000769HP:0000769Abnormality of the breast0SOX3 CL E G H665811199ORPHA:90695Non-acquired panhypopituitarism24
HP:0000769HP:0000769Abnormality of the breast0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0000769HP:0000769Abnormality of the breast0SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesis109
HP:0000769HP:0000769Abnormality of the breast0SPIDR CL E G H2351428971ORPHA:24346,XX gonadal dysgenesis2
HP:0000769HP:0000769Abnormality of the breast0SPRED2 CL E G H20073417722ORPHA:648Noonan syndrome
HP:0000769HP:0000769Abnormality of the breast0SPRY4 CL E G H8184815533OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia5
HP:0000769HP:0000769Abnormality of the breast0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndrome5
HP:0000769HP:0000769Abnormality of the breast0SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadism5
HP:0000769HP:0000769Abnormality of the breast0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000769HP:0000769Abnormality of the breast0SRA1 CL E G H1001111281OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0000769HP:0000769Abnormality of the breast0SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ80
HP:0000769HP:0000769Abnormality of the breast0SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesis23
HP:0000769HP:0000769Abnormality of the breast0SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesis23
HP:0000769HP:0000769Abnormality of the breast0SRY CL E G H673611311OMIM:40004546XX sex reversal 123
HP:0000769HP:0000769Abnormality of the breast0STAG1 CL E G H1027411354OMIM:617635Mental retardation, autosomal dominant 479
HP:0000769HP:0000769Abnormality of the breast0STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndrome740
HP:0000769HP:0000769Abnormality of the breast0STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome740
HP:0000769HP:0000769Abnormality of the breast0STT3A CL E G H37036172OMIM:619714CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD21
HP:0000769HP:0000769Abnormality of the breast0TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadism6
HP:0000769HP:0000769Abnormality of the breast0TACR3 CL E G H687011528ORPHA:478Kallmann syndrome34
HP:0000769HP:0000769Abnormality of the breast0TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadism34
HP:0000769HP:0000769Abnormality of the breast0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0000769HP:0000769Abnormality of the breast0TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndrome22
HP:0000769HP:0000769Abnormality of the breast0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome22
HP:0000769HP:0000769Abnormality of the breast0TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndrome100
HP:0000769HP:0000769Abnormality of the breast0TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0000769HP:0000769Abnormality of the breast0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities1
HP:0000769HP:0000769Abnormality of the breast0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome241
HP:0000769HP:0000769Abnormality of the breast0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndrome241
HP:0000769HP:0000769Abnormality of the breast0TERF2IP CL E G H5438619246ORPHA:618Familial melanoma
HP:0000769HP:0000769Abnormality of the breast0TERT CL E G H701511730ORPHA:618Familial melanoma238
HP:0000769HP:0000769Abnormality of the breast0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0000769HP:0000769Abnormality of the breast0TFAP2B CL E G H702111743ORPHA:46627Char syndrome104
HP:0000769HP:0000769Abnormality of the breast0TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX1
HP:0000769HP:0000769Abnormality of the breast0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0000769HP:0000769Abnormality of the breast0TMEM53 CL E G H7963926186OMIM:619727CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000769HP:0000769Abnormality of the breast0TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies1
HP:0000769HP:0000769Abnormality of the breast0TNRC6B CL E G H2311229190OMIM:619243GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000769HP:0000769Abnormality of the breast0TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0000769HP:0000769Abnormality of the breast0TP53 CL E G H715711998OMIM:114480Breast cancer911
HP:0000769HP:0000769Abnormality of the breast0TP53 CL E G H715711998ORPHA:1333Familial pancreatic carcinoma911
HP:0000769HP:0000769Abnormality of the breast0TP53 CL E G H715711998ORPHA:145Hereditary breast and ovarian cancer syndrome911
HP:0000769HP:0000769Abnormality of the breast0TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndrome911
HP:0000769HP:0000769Abnormality of the breast0TP53 CL E G H715711998OMIM:151623Li-Fraumeni syndrome911
HP:0000769HP:0000769Abnormality of the breast0TP63 CL E G H862615979OMIM:103285Adult syndrome140
HP:0000769HP:0000769Abnormality of the breast0TP63 CL E G H862615979ORPHA:978ADULT syndrome140
HP:0000769HP:0000769Abnormality of the breast0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate140
HP:0000769HP:0000769Abnormality of the breast0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0000769HP:0000769Abnormality of the breast0TP63 CL E G H862615979ORPHA:1896EEC syndrome140
HP:0000769HP:0000769Abnormality of the breast0TP63 CL E G H862615979OMIM:603543Limb-Mammary syndrome140
HP:0000769HP:0000769Abnormality of the breast0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0000769HP:0000769Abnormality of the breast0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0000769HP:0000769Abnormality of the breast0TRAF7 CL E G H8423120456OMIM:618164Cardiac, facial, and digital anomalies with developmental delay
HP:0000769HP:0000769Abnormality of the breast0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0000769HP:0000769Abnormality of the breast0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000769HP:0000769Abnormality of the breast0TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 114
HP:0000769HP:0000769Abnormality of the breast0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0000769HP:0000769Abnormality of the breast0TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndrome7
HP:0000769HP:0000769Abnormality of the breast0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0000769HP:0000769Abnormality of the breast0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0000769HP:0000769Abnormality of the breast0TWIST2 CL E G H11758120670ORPHA:1231Barber-Say syndrome7
HP:0000769HP:0000769Abnormality of the breast0UBA2 CL E G H1005430661OMIM:619959
HP:0000769HP:0000769Abnormality of the breast0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0000769HP:0000769Abnormality of the breast0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento type7
HP:0000769HP:0000769Abnormality of the breast0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome25
HP:0000769HP:0000769Abnormality of the breast0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0000769HP:0000769Abnormality of the breast0USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted27
HP:0000769HP:0000769Abnormality of the breast0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability27
HP:0000769HP:0000769Abnormality of the breast0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0000769HP:0000769Abnormality of the breast0VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0000769HP:0000769Abnormality of the breast0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0000769HP:0000769Abnormality of the breast0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation20
HP:0000769HP:0000769Abnormality of the breast0WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0000769HP:0000769Abnormality of the breast0WASHC5 CL E G H989728984ORPHA:73C syndrome83
HP:0000769HP:0000769Abnormality of the breast0WDR11 CL E G H5571713831OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia10
HP:0000769HP:0000769Abnormality of the breast0WDR11 CL E G H5571713831ORPHA:478Kallmann syndrome10
HP:0000769HP:0000769Abnormality of the breast0WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadism10
HP:0000769HP:0000769Abnormality of the breast0WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly95
HP:0000769HP:0000769Abnormality of the breast0WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000769HP:0000769Abnormality of the breast0WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0000769HP:0000769Abnormality of the breast0WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndrome12
HP:0000769HP:0000769Abnormality of the breast0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0000769HP:0000769Abnormality of the breast0WRN CL E G H748612791ORPHA:902Werner syndrome310
HP:0000769HP:0000769Abnormality of the breast0WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesis177
HP:0000769HP:0000769Abnormality of the breast0WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesis149
HP:0000769HP:0000769Abnormality of the breast0XRCC3 CL E G H751712830OMIM:114480Breast cancer2
HP:0000769HP:0000769Abnormality of the breast0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndrome7
HP:0000769HP:0000769Abnormality of the breast0ZBTB20 CL E G H2613713503ORPHA:3042Intellectual disability-cataracts-calcified pinnae-myopathy syndrome17
HP:0000769HP:0000769Abnormality of the breast0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0000769HP:0000769Abnormality of the breast0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0000769HP:0000769Abnormality of the breast0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0000769HP:0000769Abnormality of the breast0ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesis31
HP:0000769HP:0000769Abnormality of the breast0ZFTA CL E G H6599828449ORPHA:251636Ependymoma
HP:0000769HP:0000769Abnormality of the breast0ZMYND11 CL E G H1077116966OMIM:616083Mental retardation, autosomal dominant 3024
HP:0000769HP:0000769Abnormality of the breast0ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies4
HP:0000769HP:0000769Abnormality of the breast0ZSWIM7 CL E G H12515026993ORPHA:24346,XX gonadal dysgenesis
HP:0000769HP:0031093Abnormal breast morphology1AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 17
HP:0000769HP:0031093Abnormal breast morphology1ABCD4 CL E G H582668OMIM:614857Methylmalonic aciduria and homocystinuria, Cblj type53
HP:0000769HP:0031093Abnormal breast morphology1ACD CL E G H6505725070ORPHA:618Familial melanoma11
HP:0000769HP:0031093Abnormal breast morphology1ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency120
HP:0000769HP:0031093Abnormal breast morphology1ACTB CL E G H60132ORPHA:64755Becker nevus syndrome72
HP:0000769HP:0031093Abnormal breast morphology1ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0000769HP:0031093Abnormal breast morphology1AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0000769HP:0031094Abnormal breast physiology1AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0000769HP:0031094Abnormal breast physiology1AIP CL E G H9049358OMIM:102200Pituitary adenoma, growth hormone-secreting, 195
HP:0000769HP:0031094Abnormal breast physiology1AIP CL E G H9049358ORPHA:99725Pituitary gigantism95
HP:0000769HP:0031094Abnormal breast physiology1AIP CL E G H9049358ORPHA:2965Prolactinoma95
HP:0000769HP:0031093Abnormal breast morphology1AIP CL E G H9049358ORPHA:2965Prolactinoma95
HP:0000769HP:0031093Abnormal breast morphology1AKT1 CL E G H207391OMIM:114480Breast cancer54
HP:0000769HP:0031093Abnormal breast morphology1AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0000769HP:0031093Abnormal breast morphology1AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0000769HP:0031093Abnormal breast morphology1AKT1 CL E G H207391OMIM:167000Ovarian cancer54
HP:0000769HP:0031093Abnormal breast morphology1AKT2 CL E G H208392ORPHA:293964Hypoinsulinemic hypoglycemia and body hemihypertrophy12
HP:0000769HP:0031093Abnormal breast morphology1AKT2 CL E G H208392OMIM:240900Hypoinsulinemic hypoglycemia with hemihypertrophy12
HP:0000769HP:0031093Abnormal breast morphology1ALG11 CL E G H44013832456ORPHA:280071ALG11-CDG41
HP:0000769HP:0031093Abnormal breast morphology1ALG11 CL E G H44013832456OMIM:613661Congenital disorder of glycosylation, type Ip41
HP:0000769HP:0031093Abnormal breast morphology1ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0000769HP:0031093Abnormal breast morphology1ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig68
HP:0000769HP:0031093Abnormal breast morphology1ALG14 CL E G H19985728287OMIM:619036MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA12
HP:0000769HP:0031093Abnormal breast morphology1ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0000769HP:0031093Abnormal breast morphology1ALG3 CL E G H1019523056ORPHA:79321ALG3-CDG37
HP:0000769HP:0031093Abnormal breast morphology1ALG8 CL E G H7905323161ORPHA:79325ALG8-CDG46
HP:0000769HP:0031093Abnormal breast morphology1ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0000769HP:0031093Abnormal breast morphology1ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il93
HP:0000769HP:0031093Abnormal breast morphology1ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0000769HP:0031093Abnormal breast morphology1ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome404
HP:0000769HP:0031093Abnormal breast morphology1AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0000769HP:0031093Abnormal breast morphology1AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0000769HP:0031093Abnormal breast morphology1ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia65
HP:0000769HP:0031093Abnormal breast morphology1ANOS1 CL E G H37306211ORPHA:478Kallmann syndrome65
HP:0000769HP:0031093Abnormal breast morphology1ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome8
HP:0000769HP:0031093Abnormal breast morphology1APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0000769HP:0031093Abnormal breast morphology1APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposis3179
HP:0000769HP:0031093Abnormal breast morphology1APC CL E G H324583OMIM:135290Desmoid disease, hereditary3179
HP:0000769HP:0031093Abnormal breast morphology1APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0000769HP:0031093Abnormal breast morphology1AR CL E G H367644OMIM:300068Androgen insensitivity syndrome125
HP:0000769HP:0031093Abnormal breast morphology1AR CL E G H367644ORPHA:481Kennedy disease125
HP:0000769HP:0031093Abnormal breast morphology1AR CL E G H367644ORPHA:90797Partial androgen insensitivity syndrome125
HP:0000769HP:0031093Abnormal breast morphology1AR CL E G H367644OMIM:312300Reifenstein syndrome125
HP:0000769HP:0031093Abnormal breast morphology1AR CL E G H367644OMIM:313200Spinal and bulbar muscular atrophy, X-linked 1125
HP:0000769HP:0031093Abnormal breast morphology1ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay3
HP:0000769HP:0031093Abnormal breast morphology1ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1147
HP:0000769HP:0031093Abnormal breast morphology1ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations1
HP:0000769HP:0031093Abnormal breast morphology1ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000769HP:0031093Abnormal breast morphology1ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome145
HP:0000769HP:0031093Abnormal breast morphology1ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000769HP:0031093Abnormal breast morphology1ATM CL E G H472795OMIM:114480Breast cancer3267
HP:0000769HP:0031093Abnormal breast morphology1ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0000769HP:0031093Abnormal breast morphology1ATR CL E G H545882OMIM:614564Cutaneous telangiectasia and cancer syndrome, familial168
HP:0000769HP:0031093Abnormal breast morphology1AXIN2 CL E G H8313904OMIM:608615OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS435
HP:0000769HP:0031093Abnormal breast morphology1AXL CL E G H558905OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0000769HP:0031093Abnormal breast morphology1B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0000769HP:0031093Abnormal breast morphology1B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0000769HP:0031093Abnormal breast morphology1B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0000769HP:0031093Abnormal breast morphology1BAP1 CL E G H8314950ORPHA:618Familial melanoma184
HP:0000769HP:0031093Abnormal breast morphology1BARD1 CL E G H580952OMIM:114480Breast cancer790
HP:0000769HP:0031093Abnormal breast morphology1BARD1 CL E G H580952ORPHA:145Hereditary breast and ovarian cancer syndrome790
HP:0000769HP:0031093Abnormal breast morphology1BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000769HP:0031093Abnormal breast morphology1BLM CL E G H6411058ORPHA:125Bloom syndrome314
HP:0000769HP:0031093Abnormal breast morphology1BMP15 CL E G H92101068ORPHA:24346,XX gonadal dysgenesis16
HP:0000769HP:0031093Abnormal breast morphology1BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1
HP:0000769HP:0031093Abnormal breast morphology1BNC1 CL E G H6461081ORPHA:24346,XX gonadal dysgenesis
HP:0000769HP:0031093Abnormal breast morphology1BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0000769HP:0031093Abnormal breast morphology1BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0000769HP:0031093Abnormal breast morphology1BRCA1 CL E G H6721100OMIM:114480Breast cancer5769
HP:0000769HP:0031093Abnormal breast morphology1BRCA1 CL E G H6721100OMIM:604370Breast-Ovarian cancer, familial, susceptibility to, 15769
HP:0000769HP:0031093Abnormal breast morphology1BRCA1 CL E G H6721100ORPHA:1333Familial pancreatic carcinoma5769
HP:0000769HP:0031093Abnormal breast morphology1BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S5769
HP:0000769HP:0031093Abnormal breast morphology1BRCA1 CL E G H6721100ORPHA:145Hereditary breast and ovarian cancer syndrome5769
HP:0000769HP:0031093Abnormal breast morphology1BRCA2 CL E G H6751101OMIM:114480Breast cancer7642
HP:0000769HP:0031093Abnormal breast morphology1BRCA2 CL E G H6751101OMIM:612555Breast-Ovarian cancer, familial, susceptibility to, 27642
HP:0000769HP:0031093Abnormal breast morphology1BRCA2 CL E G H6751101ORPHA:1333Familial pancreatic carcinoma7642
HP:0000769HP:0031093Abnormal breast morphology1BRCA2 CL E G H6751101ORPHA:145Hereditary breast and ovarian cancer syndrome7642
HP:0000769HP:0031093Abnormal breast morphology1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0000769HP:0031093Abnormal breast morphology1BRIP1 CL E G H8399020473OMIM:114480Breast cancer1086
HP:0000769HP:0031093Abnormal breast morphology1BRIP1 CL E G H8399020473ORPHA:145Hereditary breast and ovarian cancer syndrome1086
HP:0000769HP:0031093Abnormal breast morphology1C18ORF32 CL E G H49766131690OMIM:619985
HP:0000769HP:0031093Abnormal breast morphology1CACNA1C CL E G H7751390OMIM:620029572
HP:0000769HP:0031093Abnormal breast morphology1CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0000769HP:0031093Abnormal breast morphology1CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndrome87
HP:0000769HP:0031093Abnormal breast morphology1CASP8 CL E G H8411509OMIM:114480Breast cancer37
HP:0000769HP:0031093Abnormal breast morphology1CBL CL E G H8671541ORPHA:648Noonan syndrome317
HP:0000769HP:0031093Abnormal breast morphology1CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia317
HP:0000769HP:0031093Abnormal breast morphology1CCDC141 CL E G H28502526821OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0000769HP:0031093Abnormal breast morphology1CCDC141 CL E G H28502526821ORPHA:478Kallmann syndrome
HP:0000769HP:0031093Abnormal breast morphology1CCDC22 CL E G H2895228909ORPHA:73C syndrome33
HP:0000769HP:0031093Abnormal breast morphology1CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome
HP:0000769HP:0031093Abnormal breast morphology1CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndrome9
HP:0000769HP:0031093Abnormal breast morphology1CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 79
HP:0000769HP:0031093Abnormal breast morphology1CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndrome31
HP:0000769HP:0031093Abnormal breast morphology1CDH1 CL E G H9991748OMIM:114480Breast cancer1003
HP:0000769HP:0031093Abnormal breast morphology1CDH1 CL E G H9991748OMIM:167000Ovarian cancer1003
HP:0000769HP:0031093Abnormal breast morphology1CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndrome2
HP:0000769HP:0031093Abnormal breast morphology1CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome2
HP:0000769HP:0031093Abnormal breast morphology1CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000769HP:0031093Abnormal breast morphology1CDH23 CL E G H6407213733ORPHA:2965Prolactinoma636
HP:0000769HP:0031094Abnormal breast physiology1CDH23 CL E G H6407213733ORPHA:2965Prolactinoma636
HP:0000769HP:0031093Abnormal breast morphology1CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenoma636
HP:0000769HP:0031093Abnormal breast morphology1CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0000769HP:0031093Abnormal breast morphology1CDK4 CL E G H10191773ORPHA:618Familial melanoma145
HP:0000769HP:0031094Abnormal breast physiology1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0000769HP:0031094Abnormal breast physiology1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0000769HP:0031093Abnormal breast morphology1CDKN2A CL E G H10291787ORPHA:618Familial melanoma289
HP:0000769HP:0031093Abnormal breast morphology1CDKN2A CL E G H10291787ORPHA:1333Familial pancreatic carcinoma289
HP:0000769HP:0031093Abnormal breast morphology1CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndrome289
HP:0000769HP:0031093Abnormal breast morphology1CDKN2B CL E G H10301788ORPHA:618Familial melanoma1
HP:0000769HP:0031094Abnormal breast physiology1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0000769HP:0031094Abnormal breast physiology1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0000769HP:0031093Abnormal breast morphology1CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndrome50
HP:0000769HP:0031093Abnormal breast morphology1CDT1 CL E G H8162024576OMIM:613804Meier-Gorlin syndrome 450
HP:0000769HP:0031093Abnormal breast morphology1CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34
HP:0000769HP:0031093Abnormal breast morphology1CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0000769HP:0031093Abnormal breast morphology1CHD7 CL E G H5563620626ORPHA:478Kallmann syndrome515
HP:0000769HP:0031093Abnormal breast morphology1CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadism515
HP:0000769HP:0031093Abnormal breast morphology1CHEK2 CL E G H1120016627OMIM:114480Breast cancer833
HP:0000769HP:0031093Abnormal breast morphology1CHEK2 CL E G H1120016627ORPHA:145Hereditary breast and ovarian cancer syndrome833
HP:0000769HP:0031093Abnormal breast morphology1CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndrome833
HP:0000769HP:0031093Abnormal breast morphology1CHEK2 CL E G H1120016627OMIM:609265LI-FRAUMENI SYNDROME 2; LFS2833
HP:0000769HP:0031093Abnormal breast morphology1CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0000769HP:0031093Abnormal breast morphology1CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0000769HP:0031093Abnormal breast morphology1CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000769HP:0031093Abnormal breast morphology1CKAP2L CL E G H15046826877ORPHA:3255Filippi syndrome7
HP:0000769HP:0031093Abnormal breast morphology1COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0000769HP:0031093Abnormal breast morphology1COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe64
HP:0000769HP:0031093Abnormal breast morphology1COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 12
HP:0000769HP:0031093Abnormal breast morphology1COLEC10 CL E G H105842220ORPHA:2938433MC syndrome3
HP:0000769HP:0031093