Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	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	ORPHA:2869	Peutz-Jeghers syndrome			740
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	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	OMIM:103285	Adult syndrome			140
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: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:0031094	Abnormal breast physiology	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0000769	HP:0031093	Abnormal breast morphology	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	ORPHA:2052	Fraser syndrome			353
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	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	ORPHA:464	Incontinentia pigmenti			52
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	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:0031093	Abnormal breast morphology	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			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	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	OMIM:151623	Li-Fraumeni 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	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	OMIM:603543	Limb-Mammary 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: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:0010311	Aplasia/Hypoplasia of the breasts	2	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome			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	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: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	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: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:478	Kallmann syndrome	HP:0040283 - Occasional		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:0004404	Abnormal nipple morphology	2	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			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: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: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:0004404	Abnormal nipple morphology	2	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0000769	HP:0000771	Gynecomastia	2	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
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: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:0010311	Aplasia/Hypoplasia of the breasts	2	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
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: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: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	ORPHA:201	Cowden syndrome			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	OMIM:158320	Muir-Torre syndrome			2162
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	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: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:0004404	Abnormal nipple morphology	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: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: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	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:0000771	Gynecomastia	2	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		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: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: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: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	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: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	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome			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: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	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:0004404	Abnormal nipple morphology	2	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
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	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: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	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	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	ORPHA:978	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	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	TWIST2 CL E G H	117581	20670	OMIM:209885	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:0100013	Neoplasm of the breast	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0000769	HP:0000771	Gynecomastia	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		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:0040157	Abnormal intermamillary distance	3	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			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	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	OMIM:263750	Postaxial acrofacial dysostosis	.		59
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: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: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: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: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: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	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: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	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: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: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: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: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:0040157	Abnormal intermamillary distance	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	OMIM:158320	Muir-Torre syndrome	.		2162
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	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:0040157	Abnormal intermamillary distance	3	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
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: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:0006709	Aplasia/Hypoplasia of the nipples	3	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			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	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: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:0040157	Abnormal intermamillary distance	3	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
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: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	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	OMIM:610954	Pitt-Hopkins syndrome			241
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	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: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:0006709	Aplasia/Hypoplasia of the nipples	3	TP63 CL E G H	8626	15979	OMIM:603543	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: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	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	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:0006709	Aplasia/Hypoplasia of the nipples	3	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome			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: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: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	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	ORPHA:3138	Ulnar-mammary syndrome	HP:0040282 - Frequent		100
HP:0000769	HP:0002557	Hypoplastic nipples	4	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.		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: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: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: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: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:0002561	Absent nipple	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