Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency		120
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome		72
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG		41
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip		41
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG		46
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il		93
HP:0004404	HP:0004404	Abnormal nipple morphology	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0004404	HP:0004404	Abnormal nipple morphology	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations		1
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0004404	HP:0004404	Abnormal nipple morphology	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0004404	HP:0004404	Abnormal nipple morphology	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0004404	HP:0004404	Abnormal nipple morphology	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0004404	HP:0004404	Abnormal nipple morphology	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0004404	HP:0004404	Abnormal nipple morphology	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0004404	HP:0004404	Abnormal nipple morphology	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0004404	HP:0004404	Abnormal nipple morphology	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0004404	HP:0004404	Abnormal nipple morphology	0	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0004404	HP:0004404	Abnormal nipple morphology	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0004404	HP:0004404	Abnormal nipple morphology	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0004404	HP:0004404	Abnormal nipple morphology	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0004404	HP:0004404	Abnormal nipple morphology	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia		317
HP:0004404	HP:0004404	Abnormal nipple morphology	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0004404	HP:0004404	Abnormal nipple morphology	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0004404	HP:0004404	Abnormal nipple morphology	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0004404	HP:0004404	Abnormal nipple morphology	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0004404	HP:0004404	Abnormal nipple morphology	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0004404	HP:0004404	Abnormal nipple morphology	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0004404	HP:0004404	Abnormal nipple morphology	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0004404	HP:0004404	Abnormal nipple morphology	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0004404	HP:0004404	Abnormal nipple morphology	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		515
HP:0004404	HP:0004404	Abnormal nipple morphology	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0004404	HP:0004404	Abnormal nipple morphology	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0004404	HP:0004404	Abnormal nipple morphology	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0004404	HP:0004404	Abnormal nipple morphology	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome		7
HP:0004404	HP:0004404	Abnormal nipple morphology	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0004404	HP:0004404	Abnormal nipple morphology	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe		64
HP:0004404	HP:0004404	Abnormal nipple morphology	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome		3
HP:0004404	HP:0004404	Abnormal nipple morphology	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome		9
HP:0004404	HP:0004404	Abnormal nipple morphology	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2		6
HP:0004404	HP:0004404	Abnormal nipple morphology	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0004404	HP:0004404	Abnormal nipple morphology	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0004404	HP:0004404	Abnormal nipple morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0004404	HP:0004404	Abnormal nipple morphology	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0004404	HP:0004404	Abnormal nipple morphology	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0004404	HP:0004404	Abnormal nipple morphology	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0004404	HP:0004404	Abnormal nipple morphology	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0004404	HP:0004404	Abnormal nipple morphology	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis		59
HP:0004404	HP:0004404	Abnormal nipple morphology	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis		59
HP:0004404	HP:0004404	Abnormal nipple morphology	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0004404	HP:0004404	Abnormal nipple morphology	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij		38
HP:0004404	HP:0004404	Abnormal nipple morphology	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG		38
HP:0004404	HP:0004404	Abnormal nipple morphology	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG		27
HP:0004404	HP:0004404	Abnormal nipple morphology	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		4
HP:0004404	HP:0004404	Abnormal nipple morphology	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0004404	HP:0004404	Abnormal nipple morphology	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0004404	HP:0004404	Abnormal nipple morphology	0	EDARADD CL E G H	128178	14341	OMIM:614940	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant		56
HP:0004404	HP:0004404	Abnormal nipple morphology	0	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0004404	HP:0004404	Abnormal nipple morphology	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0004404	HP:0004404	Abnormal nipple morphology	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia		27
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0004404	HP:0004404	Abnormal nipple morphology	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0004404	HP:0004404	Abnormal nipple morphology	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0004404	HP:0004404	Abnormal nipple morphology	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0004404	HP:0004404	Abnormal nipple morphology	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		17
HP:0004404	HP:0004404	Abnormal nipple morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		172
HP:0004404	HP:0004404	Abnormal nipple morphology	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0004404	HP:0004404	Abnormal nipple morphology	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0004404	HP:0004404	Abnormal nipple morphology	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0004404	HP:0004404	Abnormal nipple morphology	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0004404	HP:0004404	Abnormal nipple morphology	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0004404	HP:0004404	Abnormal nipple morphology	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome		87
HP:0004404	HP:0004404	Abnormal nipple morphology	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0004404	HP:0004404	Abnormal nipple morphology	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0004404	HP:0004404	Abnormal nipple morphology	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0004404	HP:0004404	Abnormal nipple morphology	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0004404	HP:0004404	Abnormal nipple morphology	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		15
HP:0004404	HP:0004404	Abnormal nipple morphology	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		92
HP:0004404	HP:0004404	Abnormal nipple morphology	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0004404	HP:0004404	Abnormal nipple morphology	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0004404	HP:0004404	Abnormal nipple morphology	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0004404	HP:0004404	Abnormal nipple morphology	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0004404	HP:0004404	Abnormal nipple morphology	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0004404	HP:0004404	Abnormal nipple morphology	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0004404	HP:0004404	Abnormal nipple morphology	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0004404	HP:0004404	Abnormal nipple morphology	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0004404	HP:0004404	Abnormal nipple morphology	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0004404	HP:0004404	Abnormal nipple morphology	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome		33
HP:0004404	HP:0004404	Abnormal nipple morphology	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0004404	HP:0004404	Abnormal nipple morphology	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome		8
HP:0004404	HP:0004404	Abnormal nipple morphology	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:0004404	HP:0004404	Abnormal nipple morphology	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:0004404	HP:0004404	Abnormal nipple morphology	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0004404	HP:0004404	Abnormal nipple morphology	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		8
HP:0004404	HP:0004404	Abnormal nipple morphology	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3		16
HP:0004404	HP:0004404	Abnormal nipple morphology	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0004404	HP:0004404	Abnormal nipple morphology	0	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance		268
HP:0004404	HP:0004404	Abnormal nipple morphology	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to		268
HP:0004404	HP:0004404	Abnormal nipple morphology	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0004404	HP:0004404	Abnormal nipple morphology	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0004404	HP:0004404	Abnormal nipple morphology	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome		229
HP:0004404	HP:0004404	Abnormal nipple morphology	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism		229
HP:0004404	HP:0004404	Abnormal nipple morphology	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0004404	HP:0004404	Abnormal nipple morphology	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0004404	HP:0004404	Abnormal nipple morphology	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0004404	HP:0004404	Abnormal nipple morphology	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0004404	HP:0004404	Abnormal nipple morphology	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0004404	HP:0004404	Abnormal nipple morphology	0	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome		11
HP:0004404	HP:0004404	Abnormal nipple morphology	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0004404	HP:0004404	Abnormal nipple morphology	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0004404	HP:0004404	Abnormal nipple morphology	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0004404	HP:0004404	Abnormal nipple morphology	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0004404	HP:0004404	Abnormal nipple morphology	0	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities		9
HP:0004404	HP:0004404	Abnormal nipple morphology	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0004404	HP:0004404	Abnormal nipple morphology	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0004404	HP:0004404	Abnormal nipple morphology	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0004404	HP:0004404	Abnormal nipple morphology	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0004404	HP:0004404	Abnormal nipple morphology	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		14
HP:0004404	HP:0004404	Abnormal nipple morphology	0	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0004404	HP:0004404	Abnormal nipple morphology	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0004404	HP:0004404	Abnormal nipple morphology	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0004404	HP:0004404	Abnormal nipple morphology	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome		196
HP:0004404	HP:0004404	Abnormal nipple morphology	0	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular		45
HP:0004404	HP:0004404	Abnormal nipple morphology	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0004404	HP:0004404	Abnormal nipple morphology	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0004404	HP:0004404	Abnormal nipple morphology	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0004404	HP:0004404	Abnormal nipple morphology	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0004404	HP:0004404	Abnormal nipple morphology	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0004404	HP:0004404	Abnormal nipple morphology	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0004404	HP:0004404	Abnormal nipple morphology	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0004404	HP:0004404	Abnormal nipple morphology	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG		93
HP:0004404	HP:0004404	Abnormal nipple morphology	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0004404	HP:0004404	Abnormal nipple morphology	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0004404	HP:0004404	Abnormal nipple morphology	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0004404	HP:0004404	Abnormal nipple morphology	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome		21
HP:0004404	HP:0004404	Abnormal nipple morphology	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0004404	HP:0004404	Abnormal nipple morphology	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51		4
HP:0004404	HP:0004404	Abnormal nipple morphology	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0004404	HP:0004404	Abnormal nipple morphology	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0004404	HP:0004404	Abnormal nipple morphology	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0004404	HP:0004404	Abnormal nipple morphology	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0004404	HP:0004404	Abnormal nipple morphology	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0004404	HP:0004404	Abnormal nipple morphology	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0004404	HP:0004404	Abnormal nipple morphology	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0004404	HP:0004404	Abnormal nipple morphology	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0004404	HP:0004404	Abnormal nipple morphology	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome		40
HP:0004404	HP:0004404	Abnormal nipple morphology	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0004404	HP:0004404	Abnormal nipple morphology	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0004404	HP:0004404	Abnormal nipple morphology	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0004404	HP:0004404	Abnormal nipple morphology	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0004404	HP:0004404	Abnormal nipple morphology	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0004404	HP:0004404	Abnormal nipple morphology	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0004404	HP:0004404	Abnormal nipple morphology	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0004404	HP:0004404	Abnormal nipple morphology	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0004404	HP:0004404	Abnormal nipple morphology	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B		47
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		8
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		20
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome		36
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		36
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		84
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		57
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		6
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		2
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome		103
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		9
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2		27
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0004404	HP:0004404	Abnormal nipple morphology	0	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2		1
HP:0004404	HP:0004404	Abnormal nipple morphology	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0004404	HP:0004404	Abnormal nipple morphology	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0004404	HP:0004404	Abnormal nipple morphology	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0004404	HP:0004404	Abnormal nipple morphology	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0004404	HP:0004404	Abnormal nipple morphology	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0004404	HP:0004404	Abnormal nipple morphology	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0004404	HP:0004404	Abnormal nipple morphology	0	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN		92
HP:0004404	HP:0004404	Abnormal nipple morphology	0	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG		92
HP:0004404	HP:0004404	Abnormal nipple morphology	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0004404	HP:0004404	Abnormal nipple morphology	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0004404	HP:0004404	Abnormal nipple morphology	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0004404	HP:0004404	Abnormal nipple morphology	0	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome		10
HP:0004404	HP:0004404	Abnormal nipple morphology	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0004404	HP:0004404	Abnormal nipple morphology	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0004404	HP:0004404	Abnormal nipple morphology	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0004404	HP:0004404	Abnormal nipple morphology	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0004404	HP:0004404	Abnormal nipple morphology	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0004404	HP:0004404	Abnormal nipple morphology	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0004404	HP:0004404	Abnormal nipple morphology	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0004404	HP:0004404	Abnormal nipple morphology	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0004404	HP:0004404	Abnormal nipple morphology	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14
HP:0004404	HP:0004404	Abnormal nipple morphology	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0004404	HP:0004404	Abnormal nipple morphology	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome		146
HP:0004404	HP:0004404	Abnormal nipple morphology	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0004404	HP:0004404	Abnormal nipple morphology	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0004404	HP:0004404	Abnormal nipple morphology	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0004404	HP:0004404	Abnormal nipple morphology	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0004404	HP:0004404	Abnormal nipple morphology	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0004404	HP:0004404	Abnormal nipple morphology	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0004404	HP:0004404	Abnormal nipple morphology	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0004404	HP:0004404	Abnormal nipple morphology	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0004404	HP:0004404	Abnormal nipple morphology	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0004404	HP:0004404	Abnormal nipple morphology	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0004404	HP:0004404	Abnormal nipple morphology	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		5
HP:0004404	HP:0004404	Abnormal nipple morphology	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0004404	HP:0004404	Abnormal nipple morphology	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0004404	HP:0004404	Abnormal nipple morphology	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0004404	HP:0004404	Abnormal nipple morphology	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities		1
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome		241
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome		104
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX		1
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome		140
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome		140
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome		140
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0004404	HP:0004404	Abnormal nipple morphology	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome		7
HP:0004404	HP:0004404	Abnormal nipple morphology	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0004404	HP:0004404	Abnormal nipple morphology	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0004404	HP:0004404	Abnormal nipple morphology	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0004404	HP:0004404	Abnormal nipple morphology	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0004404	HP:0004404	Abnormal nipple morphology	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0004404	HP:0004404	Abnormal nipple morphology	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0004404	HP:0004404	Abnormal nipple morphology	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome		20
HP:0004404	HP:0004404	Abnormal nipple morphology	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation		20
HP:0004404	HP:0004404	Abnormal nipple morphology	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0004404	HP:0004404	Abnormal nipple morphology	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0004404	HP:0004404	Abnormal nipple morphology	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		10
HP:0004404	HP:0004404	Abnormal nipple morphology	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95
HP:0004404	HP:0004404	Abnormal nipple morphology	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0004404	HP:0004404	Abnormal nipple morphology	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0004404	HP:0004404	Abnormal nipple morphology	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome		12
HP:0004404	HP:0004404	Abnormal nipple morphology	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30		24
HP:0004404	HP:0004404	Abnormal nipple morphology	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4
HP:0004404	HP:0031509	Dry nipple	1	CL E G H
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0004404	HP:0003186	Inverted nipples	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.	120
HP:0004404	HP:0002558	Supernumerary nipple	1	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040281 - Very frequent	72
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0004404	HP:0003186	Inverted nipples	1	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040283 - Occasional	41
HP:0004404	HP:0003186	Inverted nipples	1	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip	HP:0040283 - Occasional	41
HP:0004404	HP:0003186	Inverted nipples	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040284 - Very rare	68
HP:0004404	HP:0003186	Inverted nipples	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0004404	HP:0003186	Inverted nipples	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0004404	HP:0003186	Inverted nipples	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040283 - Occasional	37
HP:0004404	HP:0003186	Inverted nipples	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0004404	HP:0003186	Inverted nipples	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040282 - Frequent	93
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il		93
HP:0004404	HP:0003186	Inverted nipples	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il		93
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0004404	HP:0002558	Supernumerary nipple	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations		1
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0004404	HP:0002558	Supernumerary nipple	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0004404	HP:0002558	Supernumerary nipple	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0004404	HP:0003186	Inverted nipples	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0004404	HP:0003186	Inverted nipples	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0004404	HP:0003186	Inverted nipples	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0004404	HP:0003186	Inverted nipples	1	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0004404	HP:0003186	Inverted nipples	1	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0004404	HP:0002562	Low-set nipples	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia		317
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional	33
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0004404	HP:0002558	Supernumerary nipple	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0004404	HP:0002558	Supernumerary nipple	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		515
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0004404	HP:0002558	Supernumerary nipple	1	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040283 - Occasional	7
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0004404	HP:0003186	Inverted nipples	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0004404	HP:0002558	Supernumerary nipple	1	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	3
HP:0004404	HP:0002558	Supernumerary nipple	1	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	9
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2		6
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	1
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0004404	HP:0002558	Supernumerary nipple	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0004404	HP:0002558	Supernumerary nipple	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0004404	HP:0003186	Inverted nipples	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0004404	HP:0002558	Supernumerary nipple	1	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0004404	HP:0002558	Supernumerary nipple	1	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040281 - Very frequent	59
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0004404	HP:0003186	Inverted nipples	1	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:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0004404	HP:0003186	Inverted nipples	1	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	.	38
HP:0004404	HP:0003186	Inverted nipples	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0004404	HP:0003186	Inverted nipples	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		4
HP:0004404	HP:0003186	Inverted nipples	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	EDARADD CL E G H	128178	14341	OMIM:614940	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant		56
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040283 - Occasional	27
HP:0004404	HP:0002562	Low-set nipples	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0004404	HP:0002562	Low-set nipples	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0004404	HP:0003186	Inverted nipples	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		17
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		172
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome		87
HP:0004404	HP:0002558	Supernumerary nipple	1	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		15
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		92
HP:0004404	HP:0002558	Supernumerary nipple	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent	73
HP:0004404	HP:0002558	Supernumerary nipple	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0004404	HP:0002558	Supernumerary nipple	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0004404	HP:0002558	Supernumerary nipple	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0004404	HP:0002562	Low-set nipples	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0004404	HP:0002562	Low-set nipples	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0004404	HP:0002562	Low-set nipples	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0004404	HP:0002558	Supernumerary nipple	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome		33
HP:0004404	HP:0002558	Supernumerary nipple	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0004404	HP:0003186	Inverted nipples	1	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome		8
HP:0004404	HP:0002558	Supernumerary nipple	1	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:0004404	HP:0003186	Inverted nipples	1	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:0004404	HP:0002558	Supernumerary nipple	1	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:0004404	HP:0003186	Inverted nipples	1	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:0004404	HP:0002558	Supernumerary nipple	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		8
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3		16
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance		268
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to		268
HP:0004404	HP:0002558	Supernumerary nipple	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0004404	HP:0002558	Supernumerary nipple	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent	52
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0004404	HP:0004405	Prominent nipples	1	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0004404	HP:0004405	Prominent nipples	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040282 - Frequent	229
HP:0004404	HP:0003186	Inverted nipples	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0004404	HP:0003186	Inverted nipples	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0004404	HP:0002562	Low-set nipples	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.	11
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040281 - Very frequent	11
HP:0004404	HP:0002558	Supernumerary nipple	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features	HP:0040283 - Occasional	3
HP:0004404	HP:0002558	Supernumerary nipple	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0004404	HP:0002558	Supernumerary nipple	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities		9
HP:0004404	HP:0002558	Supernumerary nipple	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		14
HP:0004404	HP:0003186	Inverted nipples	1	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0004404	HP:0002558	Supernumerary nipple	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular		45
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0004404	HP:0003186	Inverted nipples	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0004404	HP:0003186	Inverted nipples	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional	93
HP:0004404	HP:0003186	Inverted nipples	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0004404	HP:0002558	Supernumerary nipple	1	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	21
HP:0004404	HP:0002558	Supernumerary nipple	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0004404	HP:0002558	Supernumerary nipple	1	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51	HP:0040283 - Occasional	4
HP:0004404	HP:0003186	Inverted nipples	1	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:0004404	HP:0040157	Abnormal intermamillary distance	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0004404	HP:0002558	Supernumerary nipple	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.	13
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0004404	HP:0003186	Inverted nipples	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0004404	HP:0002562	Low-set nipples	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0004404	HP:0003186	Inverted nipples	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional	40
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0004404	HP:0002558	Supernumerary nipple	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	118
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0004404	HP:0003186	Inverted nipples	1	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B	.	47
HP:0004404	HP:0002558	Supernumerary nipple	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0004404	HP:0002558	Supernumerary nipple	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	7
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040281 - Very frequent	36
HP:0004404	HP:0002558	Supernumerary nipple	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0004404	HP:0002562	Low-set nipples	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040281 - Very frequent	37
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0004404	HP:0002558	Supernumerary nipple	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0004404	HP:0003186	Inverted nipples	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0004404	HP:0003186	Inverted nipples	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.	12
HP:0004404	HP:0002558	Supernumerary nipple	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0004404	HP:0002558	Supernumerary nipple	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0004404	HP:0002558	Supernumerary nipple	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0004404	HP:0003186	Inverted nipples	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent	150
HP:0004404	HP:0002558	Supernumerary nipple	1	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040283 - Occasional	103
HP:0004404	HP:0002558	Supernumerary nipple	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0004404	HP:0002558	Supernumerary nipple	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		9
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2		27
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2		1
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0004404	HP:0004405	Prominent nipples	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.	135
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0004404	HP:0003186	Inverted nipples	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0004404	HP:0003186	Inverted nipples	1	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.	92
HP:0004404	HP:0003186	Inverted nipples	1	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG	HP:0040282 - Frequent	92
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0004404	HP:0002562	Low-set nipples	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0004404	HP:0002558	Supernumerary nipple	1	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040283 - Occasional	10
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent
HP:0004404	HP:0003186	Inverted nipples	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0004404	HP:0003186	Inverted nipples	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0004404	HP:0003186	Inverted nipples	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB	.	14
HP:0004404	HP:0003186	Inverted nipples	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional	27
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome		146
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0004404	HP:0003186	Inverted nipples	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		5
HP:0004404	HP:0003186	Inverted nipples	1	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0004404	HP:0002558	Supernumerary nipple	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0004404	HP:0003186	Inverted nipples	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0004404	HP:0002562	Low-set nipples	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0004404	HP:0003186	Inverted nipples	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0004404	HP:0003186	Inverted nipples	1	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.	1
HP:0004404	HP:0002558	Supernumerary nipple	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040283 - Occasional	241
HP:0004404	HP:0002558	Supernumerary nipple	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0004404	HP:0002558	Supernumerary nipple	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0004404	HP:0002558	Supernumerary nipple	1	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040283 - Occasional	104
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX		1
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0004404	HP:0002558	Supernumerary nipple	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0004404	HP:0002558	Supernumerary nipple	1	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome		140
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome		140
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome		140
HP:0004404	HP:0002558	Supernumerary nipple	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional	140
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome		140
HP:0004404	HP:0002558	Supernumerary nipple	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0004404	HP:0002558	Supernumerary nipple	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent	7
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.	7
HP:0004404	HP:0003186	Inverted nipples	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome		7
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0004404	HP:0002558	Supernumerary nipple	1	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0004404	HP:0003186	Inverted nipples	1	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome		20
HP:0004404	HP:0003186	Inverted nipples	1	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:0004404	HP:0003186	Inverted nipples	1	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional	83
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		10
HP:0004404	HP:0002558	Supernumerary nipple	1	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent	12
HP:0004404	HP:0006709	Aplasia/Hypoplasia of the nipples	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0004404	HP:0002558	Supernumerary nipple	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0004404	HP:0002558	Supernumerary nipple	1	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30		24
HP:0004404	HP:0040157	Abnormal intermamillary distance	1	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4
HP:0004404	HP:0040158	Short intermamillary distance	2	CL E G H
HP:0004404	HP:0006610	Wide intermamillary distance	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	HP:0040283 - Occasional	53
HP:0004404	HP:0006610	Wide intermamillary distance	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional	47
HP:0004404	HP:0006610	Wide intermamillary distance	2	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0004404	HP:0002557	Hypoplastic nipples	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0004404	HP:0006610	Wide intermamillary distance	2	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.	93
HP:0004404	HP:0006610	Wide intermamillary distance	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0004404	HP:0006610	Wide intermamillary distance	2	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0004404	HP:0002557	Hypoplastic nipples	2	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0004404	HP:0006610	Wide intermamillary distance	2	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.	3
HP:0004404	HP:0006610	Wide intermamillary distance	2	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.	1
HP:0004404	HP:0006610	Wide intermamillary distance	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0004404	HP:0006610	Wide intermamillary distance	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0004404	HP:0006610	Wide intermamillary distance	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0004404	HP:0006610	Wide intermamillary distance	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0004404	HP:0006610	Wide intermamillary distance	2	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0004404	HP:0006610	Wide intermamillary distance	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0004404	HP:0002557	Hypoplastic nipples	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0004404	HP:0006610	Wide intermamillary distance	2	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	317
HP:0004404	HP:0006610	Wide intermamillary distance	2	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0004404	HP:0002557	Hypoplastic nipples	2	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0004404	HP:0002561	Absent nipple	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040284 - Very rare	2
HP:0004404	HP:0006610	Wide intermamillary distance	2	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	HP:0040284 - Very rare	2
HP:0004404	HP:0006610	Wide intermamillary distance	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0004404	HP:0006610	Wide intermamillary distance	2	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0004404	HP:0006610	Wide intermamillary distance	2	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	515
HP:0004404	HP:0002557	Hypoplastic nipples	2	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0004404	HP:0006610	Wide intermamillary distance	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0004404	HP:0006610	Wide intermamillary distance	2	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0004404	HP:0006610	Wide intermamillary distance	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.	52
HP:0004404	HP:0006610	Wide intermamillary distance	2	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional	6
HP:0004404	HP:0006610	Wide intermamillary distance	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0004404	HP:0006610	Wide intermamillary distance	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0004404	HP:0006610	Wide intermamillary distance	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0004404	HP:0006610	Wide intermamillary distance	2	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:0004404	HP:0002557	Hypoplastic nipples	2	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:0004404	HP:0006610	Wide intermamillary distance	2	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	4
HP:0004404	HP:0002561	Absent nipple	2	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0004404	HP:0002557	Hypoplastic nipples	2	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0004404	HP:0002561	Absent nipple	2	EDARADD CL E G H	128178	14341	OMIM:614940	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	HP:0040283 - Occasional	56
HP:0004404	HP:0002561	Absent nipple	2	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	HP:0040283 - Occasional	56
HP:0004404	HP:0002557	Hypoplastic nipples	2	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0004404	HP:0006610	Wide intermamillary distance	2	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0004404	HP:0006610	Wide intermamillary distance	2	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.	199
HP:0004404	HP:0006610	Wide intermamillary distance	2	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040283 - Occasional	36
HP:0004404	HP:0006610	Wide intermamillary distance	2	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0004404	HP:0006610	Wide intermamillary distance	2	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0004404	HP:0006610	Wide intermamillary distance	2	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	17
HP:0004404	HP:0006610	Wide intermamillary distance	2	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	172
HP:0004404	HP:0002561	Absent nipple	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0004404	HP:0002557	Hypoplastic nipples	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0004404	HP:0006610	Wide intermamillary distance	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0004404	HP:0006610	Wide intermamillary distance	2	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0004404	HP:0006610	Wide intermamillary distance	2	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0004404	HP:0006610	Wide intermamillary distance	2	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent	87
HP:0004404	HP:0006610	Wide intermamillary distance	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0004404	HP:0002557	Hypoplastic nipples	2	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.	173
HP:0004404	HP:0006610	Wide intermamillary distance	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0004404	HP:0006610	Wide intermamillary distance	2	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	15
HP:0004404	HP:0006610	Wide intermamillary distance	2	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	92
HP:0004404	HP:0006610	Wide intermamillary distance	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0004404	HP:0006610	Wide intermamillary distance	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0004404	HP:0006610	Wide intermamillary distance	2	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0004404	HP:0006610	Wide intermamillary distance	2	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0004404	HP:0002557	Hypoplastic nipples	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0004404	HP:0006610	Wide intermamillary distance	2	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0004404	HP:0006610	Wide intermamillary distance	2	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	8
HP:0004404	HP:0006610	Wide intermamillary distance	2	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.	16
HP:0004404	HP:0006610	Wide intermamillary distance	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0004404	HP:0006610	Wide intermamillary distance	2	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance	HP:0040282 - Frequent	268
HP:0004404	HP:0006610	Wide intermamillary distance	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	HP:0040284 - Very rare	268
HP:0004404	HP:0002557	Hypoplastic nipples	2	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0004404	HP:0006610	Wide intermamillary distance	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly	.
HP:0004404	HP:0006610	Wide intermamillary distance	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome	.	283
HP:0004404	HP:0006610	Wide intermamillary distance	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0004404	HP:0006610	Wide intermamillary distance	2	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0004404	HP:0002557	Hypoplastic nipples	2	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.	9
HP:0004404	HP:0006610	Wide intermamillary distance	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0004404	HP:0002557	Hypoplastic nipples	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0004404	HP:0006610	Wide intermamillary distance	2	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0004404	HP:0006610	Wide intermamillary distance	2	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0004404	HP:0006610	Wide intermamillary distance	2	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	14
HP:0004404	HP:0006610	Wide intermamillary distance	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0004404	HP:0006610	Wide intermamillary distance	2	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	196
HP:0004404	HP:0002557	Hypoplastic nipples	2	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular		45
HP:0004404	HP:0006610	Wide intermamillary distance	2	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0004404	HP:0006610	Wide intermamillary distance	2	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0004404	HP:0006610	Wide intermamillary distance	2	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	43
HP:0004404	HP:0006610	Wide intermamillary distance	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0004404	HP:0006610	Wide intermamillary distance	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0004404	HP:0006610	Wide intermamillary distance	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0004404	HP:0006610	Wide intermamillary distance	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0004404	HP:0006610	Wide intermamillary distance	2	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	HP:0040283 - Occasional	4
HP:0004404	HP:0002557	Hypoplastic nipples	2	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:0004404	HP:0006610	Wide intermamillary distance	2	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:0004404	HP:0006610	Wide intermamillary distance	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.	13
HP:0004404	HP:0002557	Hypoplastic nipples	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.	13
HP:0004404	HP:0002557	Hypoplastic nipples	2	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0004404	HP:0006610	Wide intermamillary distance	2	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0004404	HP:0006610	Wide intermamillary distance	2	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent	4
HP:0004404	HP:0006610	Wide intermamillary distance	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040284 - Very rare	1952
HP:0004404	HP:0002557	Hypoplastic nipples	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0004404	HP:0002557	Hypoplastic nipples	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0004404	HP:0006610	Wide intermamillary distance	2	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	102
HP:0004404	HP:0006610	Wide intermamillary distance	2	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0004404	HP:0006610	Wide intermamillary distance	2	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0004404	HP:0006610	Wide intermamillary distance	2	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0004404	HP:0006610	Wide intermamillary distance	2	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0004404	HP:0006610	Wide intermamillary distance	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0004404	HP:0006610	Wide intermamillary distance	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0004404	HP:0002557	Hypoplastic nipples	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0004404	HP:0006610	Wide intermamillary distance	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent	37
HP:0004404	HP:0006610	Wide intermamillary distance	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0004404	HP:0002557	Hypoplastic nipples	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0004404	HP:0006610	Wide intermamillary distance	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0004404	HP:0006610	Wide intermamillary distance	2	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	9
HP:0004404	HP:0006610	Wide intermamillary distance	2	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0004404	HP:0006610	Wide intermamillary distance	2	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2		27
HP:0004404	HP:0006610	Wide intermamillary distance	2	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	291
HP:0004404	HP:0006610	Wide intermamillary distance	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0004404	HP:0002557	Hypoplastic nipples	2	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2	.	1
HP:0004404	HP:0002561	Absent nipple	2	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2	.	1
HP:0004404	HP:0006610	Wide intermamillary distance	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0004404	HP:0002557	Hypoplastic nipples	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0004404	HP:0006610	Wide intermamillary distance	2	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	212
HP:0004404	HP:0006610	Wide intermamillary distance	2	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	3
HP:0004404	HP:0006610	Wide intermamillary distance	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0004404	HP:0006610	Wide intermamillary distance	2	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	39
HP:0004404	HP:0006610	Wide intermamillary distance	2	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0004404	HP:0006610	Wide intermamillary distance	2	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	1
HP:0004404	HP:0002561	Absent nipple	2	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0004404	HP:0002557	Hypoplastic nipples	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0004404	HP:0006610	Wide intermamillary distance	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0004404	HP:0002557	Hypoplastic nipples	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0004404	HP:0002557	Hypoplastic nipples	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0004404	HP:0002561	Absent nipple	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0004404	HP:0006610	Wide intermamillary distance	2	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040282 - Frequent	146
HP:0004404	HP:0002557	Hypoplastic nipples	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0004404	HP:0002557	Hypoplastic nipples	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0004404	HP:0006610	Wide intermamillary distance	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0004404	HP:0006610	Wide intermamillary distance	2	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.	19
HP:0004404	HP:0006610	Wide intermamillary distance	2	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare	19
HP:0004404	HP:0006610	Wide intermamillary distance	2	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	315
HP:0004404	HP:0006610	Wide intermamillary distance	2	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0004404	HP:0006610	Wide intermamillary distance	2	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	30
HP:0004404	HP:0006610	Wide intermamillary distance	2	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0004404	HP:0006610	Wide intermamillary distance	2	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	5
HP:0004404	HP:0006610	Wide intermamillary distance	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0004404	HP:0006610	Wide intermamillary distance	2	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0004404	HP:0006610	Wide intermamillary distance	2	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0004404	HP:0006610	Wide intermamillary distance	2	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0004404	HP:0006610	Wide intermamillary distance	2	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent	22
HP:0004404	HP:0002557	Hypoplastic nipples	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0004404	HP:0002557	Hypoplastic nipples	2	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040282 - Frequent	100
HP:0004404	HP:0006610	Wide intermamillary distance	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0004404	HP:0006610	Wide intermamillary distance	2	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX		1
HP:0004404	HP:0006610	Wide intermamillary distance	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0004404	HP:0006610	Wide intermamillary distance	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0004404	HP:0006610	Wide intermamillary distance	2	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0004404	HP:0002557	Hypoplastic nipples	2	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0004404	HP:0002557	Hypoplastic nipples	2	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040282 - Frequent	140
HP:0004404	HP:0006610	Wide intermamillary distance	2	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0004404	HP:0002561	Absent nipple	2	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0004404	HP:0002561	Absent nipple	2	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040282 - Frequent	140
HP:0004404	HP:0002557	Hypoplastic nipples	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0004404	HP:0002561	Absent nipple	2	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040282 - Frequent	140
HP:0004404	HP:0002557	Hypoplastic nipples	2	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome	.	140
HP:0004404	HP:0002557	Hypoplastic nipples	2	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040282 - Frequent	140
HP:0004404	HP:0006610	Wide intermamillary distance	2	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0004404	HP:0006610	Wide intermamillary distance	2	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0004404	HP:0002557	Hypoplastic nipples	2	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.	14
HP:0004404	HP:0006610	Wide intermamillary distance	2	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.	14
HP:0004404	HP:0002557	Hypoplastic nipples	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0004404	HP:0002561	Absent nipple	2	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	.	7
HP:0004404	HP:0002557	Hypoplastic nipples	2	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040282 - Frequent	7
HP:0004404	HP:0002557	Hypoplastic nipples	2	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	.	7
HP:0004404	HP:0006610	Wide intermamillary distance	2	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0004404	HP:0006610	Wide intermamillary distance	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent	7
HP:0004404	HP:0002557	Hypoplastic nipples	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0004404	HP:0002557	Hypoplastic nipples	2	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:0004404	HP:0006610	Wide intermamillary distance	2	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0004404	HP:0006610	Wide intermamillary distance	2	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	10
HP:0004404	HP:0006610	Wide intermamillary distance	2	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0004404	HP:0006610	Wide intermamillary distance	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0004404	HP:0002557	Hypoplastic nipples	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.	13
HP:0004404	HP:0006610	Wide intermamillary distance	2	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0004404	HP:0006610	Wide intermamillary distance	2	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4