Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the breast (HP:0000769)

Parent Node:
Abnormal breast morphology (HP:0031093)

..Starting node
..Gynecomastia (HP:0000771)

Term ID:

771

Name:

Gynecomastia

Synonym:

Enlarged male breast; Gynaecomastia

Definition:

Abnormal development of large mammary glands in males resulting in breast enlargement.

Comments:

Reference:

HP:0000771

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal nipple morphology (HP:0004404)

Aplasia/Hypoplasia of the breasts (HP:0010311)

Asymmetry of the breasts (HP:0010312)

Breast hypertrophy (HP:0010313)

Hypoplastic areola (HP:0100853)

Neoplasm of the breast (HP:0100013)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000771	HP:0000771	Gynecomastia	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0000771	HP:0000771	Gynecomastia	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		95
HP:0000771	HP:0000771	Gynecomastia	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		54
HP:0000771	HP:0000771	Gynecomastia	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.		54
HP:0000771	HP:0000771	Gynecomastia	0	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040281 - Very frequent		12
HP:0000771	HP:0000771	Gynecomastia	0	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy	.		12
HP:0000771	HP:0000771	Gynecomastia	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0000771	HP:0000771	Gynecomastia	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0000771	HP:0000771	Gynecomastia	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia	.		65
HP:0000771	HP:0000771	Gynecomastia	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		65
HP:0000771	HP:0000771	Gynecomastia	0	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.		125
HP:0000771	HP:0000771	Gynecomastia	0	AR CL E G H	367	644	ORPHA:481	Kennedy disease	HP:0040281 - Very frequent		125
HP:0000771	HP:0000771	Gynecomastia	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040282 - Frequent		125
HP:0000771	HP:0000771	Gynecomastia	0	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome			125
HP:0000771	HP:0000771	Gynecomastia	0	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1	.		125
HP:0000771	HP:0000771	Gynecomastia	0	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0000771	HP:0000771	Gynecomastia	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0000771	HP:0000771	Gynecomastia	0	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0000771	HP:0000771	Gynecomastia	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000771	HP:0000771	Gynecomastia	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		636
HP:0000771	HP:0000771	Gynecomastia	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent		636
HP:0000771	HP:0000771	Gynecomastia	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		515
HP:0000771	HP:0000771	Gynecomastia	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		515
HP:0000771	HP:0000771	Gynecomastia	0	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency	HP:0040284 - Very rare		136
HP:0000771	HP:0000771	Gynecomastia	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0000771	HP:0000771	Gynecomastia	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0000771	HP:0000771	Gynecomastia	0	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040283 - Occasional		2
HP:0000771	HP:0000771	Gynecomastia	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0000771	HP:0000771	Gynecomastia	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0000771	HP:0000771	Gynecomastia	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040283 - Occasional		112
HP:0000771	HP:0000771	Gynecomastia	0	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040283 - Occasional		53
HP:0000771	HP:0000771	Gynecomastia	0	CYP17A1 CL E G H	1586	2593	OMIM:202110	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency	.		53
HP:0000771	HP:0000771	Gynecomastia	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040282 - Frequent		53
HP:0000771	HP:0000771	Gynecomastia	0	CYP19A1 CL E G H	1588	2594	OMIM:139300	Aromatase excess syndrome	.		60
HP:0000771	HP:0000771	Gynecomastia	0	CYP21A2 CL E G H	1589	2600	OMIM:201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	.	HP:0003581 - Adult onset	86
HP:0000771	HP:0000771	Gynecomastia	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		36
HP:0000771	HP:0000771	Gynecomastia	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		2
HP:0000771	HP:0000771	Gynecomastia	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		1
HP:0000771	HP:0000771	Gynecomastia	0	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		4
HP:0000771	HP:0000771	Gynecomastia	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0000771	HP:0000771	Gynecomastia	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		4
HP:0000771	HP:0000771	Gynecomastia	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040283 - Occasional		36
HP:0000771	HP:0000771	Gynecomastia	0	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		2
HP:0000771	HP:0000771	Gynecomastia	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		2
HP:0000771	HP:0000771	Gynecomastia	0	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		3
HP:0000771	HP:0000771	Gynecomastia	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		3
HP:0000771	HP:0000771	Gynecomastia	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		3
HP:0000771	HP:0000771	Gynecomastia	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		17
HP:0000771	HP:0000771	Gynecomastia	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		17
HP:0000771	HP:0000771	Gynecomastia	0	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	.		172
HP:0000771	HP:0000771	Gynecomastia	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		172
HP:0000771	HP:0000771	Gynecomastia	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		172
HP:0000771	HP:0000771	Gynecomastia	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0000771	HP:0000771	Gynecomastia	0	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome	HP:0040282 - Frequent		30
HP:0000771	HP:0000771	Gynecomastia	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		87
HP:0000771	HP:0000771	Gynecomastia	0	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		15
HP:0000771	HP:0000771	Gynecomastia	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		15
HP:0000771	HP:0000771	Gynecomastia	0	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		92
HP:0000771	HP:0000771	Gynecomastia	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		92
HP:0000771	HP:0000771	Gynecomastia	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		37
HP:0000771	HP:0000771	Gynecomastia	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		21
HP:0000771	HP:0000771	Gynecomastia	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional		38
HP:0000771	HP:0000771	Gynecomastia	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional		55
HP:0000771	HP:0000771	Gynecomastia	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		8
HP:0000771	HP:0000771	Gynecomastia	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		8
HP:0000771	HP:0000771	Gynecomastia	0	HSD17B3 CL E G H	3293	5212	ORPHA:752	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	HP:0040281 - Very frequent		31
HP:0000771	HP:0000771	Gynecomastia	0	HSD17B3 CL E G H	3293	5212	OMIM:264300	Pseudohermaphroditism, male, with gynecomastia	.		31
HP:0000771	HP:0000771	Gynecomastia	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent		34
HP:0000771	HP:0000771	Gynecomastia	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0000771	HP:0000771	Gynecomastia	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.		6
HP:0000771	HP:0000771	Gynecomastia	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		3
HP:0000771	HP:0000771	Gynecomastia	0	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia	.		14
HP:0000771	HP:0000771	Gynecomastia	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		14
HP:0000771	HP:0000771	Gynecomastia	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		1
HP:0000771	HP:0000771	Gynecomastia	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		8
HP:0000771	HP:0000771	Gynecomastia	0	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0000771	HP:0000771	Gynecomastia	0	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction	.		47
HP:0000771	HP:0000771	Gynecomastia	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent		47
HP:0000771	HP:0000771	Gynecomastia	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent		46
HP:0000771	HP:0000771	Gynecomastia	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia	.		9
HP:0000771	HP:0000771	Gynecomastia	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		13
HP:0000771	HP:0000771	Gynecomastia	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0000771	HP:0000771	Gynecomastia	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		462
HP:0000771	HP:0000771	Gynecomastia	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000771	HP:0000771	Gynecomastia	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		48
HP:0000771	HP:0000771	Gynecomastia	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		38
HP:0000771	HP:0000771	Gynecomastia	0	NSMF CL E G H	26012	29843	OMIM:614838	Hypogonadotropic hypogonadism 9 with or without anosmia	.		6
HP:0000771	HP:0000771	Gynecomastia	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		6
HP:0000771	HP:0000771	Gynecomastia	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0000771	HP:0000771	Gynecomastia	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.		29
HP:0000771	HP:0000771	Gynecomastia	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent		29
HP:0000771	HP:0000771	Gynecomastia	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		162
HP:0000771	HP:0000771	Gynecomastia	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.		162
HP:0000771	HP:0000771	Gynecomastia	0	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040281 - Very frequent		103
HP:0000771	HP:0000771	Gynecomastia	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0000771	HP:0000771	Gynecomastia	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional		138
HP:0000771	HP:0000771	Gynecomastia	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0000771	HP:0000771	Gynecomastia	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0000771	HP:0000771	Gynecomastia	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		9
HP:0000771	HP:0000771	Gynecomastia	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0000771	HP:0000771	Gynecomastia	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		34
HP:0000771	HP:0000771	Gynecomastia	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0000771	HP:0000771	Gynecomastia	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		948
HP:0000771	HP:0000771	Gynecomastia	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0000771	HP:0000771	Gynecomastia	0	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.		1
HP:0000771	HP:0000771	Gynecomastia	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent		1
HP:0000771	HP:0000771	Gynecomastia	0	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040281 - Very frequent		10
HP:0000771	HP:0000771	Gynecomastia	0	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.		3
HP:0000771	HP:0000771	Gynecomastia	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		237
HP:0000771	HP:0000771	Gynecomastia	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		147
HP:0000771	HP:0000771	Gynecomastia	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		129
HP:0000771	HP:0000771	Gynecomastia	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		60
HP:0000771	HP:0000771	Gynecomastia	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		14
HP:0000771	HP:0000771	Gynecomastia	0	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		16
HP:0000771	HP:0000771	Gynecomastia	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040283 - Occasional		134
HP:0000771	HP:0000771	Gynecomastia	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional		68
HP:0000771	HP:0000771	Gynecomastia	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0000771	HP:0000771	Gynecomastia	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional		13
HP:0000771	HP:0000771	Gynecomastia	0	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040282 - Frequent		174
HP:0000771	HP:0000771	Gynecomastia	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		61
HP:0000771	HP:0000771	Gynecomastia	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		109
HP:0000771	HP:0000771	Gynecomastia	0	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		5
HP:0000771	HP:0000771	Gynecomastia	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		5
HP:0000771	HP:0000771	Gynecomastia	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		5
HP:0000771	HP:0000771	Gynecomastia	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000771	HP:0000771	Gynecomastia	0	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0000771	HP:0000771	Gynecomastia	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional		23
HP:0000771	HP:0000771	Gynecomastia	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		23
HP:0000771	HP:0000771	Gynecomastia	0	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1	.		23
HP:0000771	HP:0000771	Gynecomastia	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome	.		740
HP:0000771	HP:0000771	Gynecomastia	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		6
HP:0000771	HP:0000771	Gynecomastia	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0000771	HP:0000771	Gynecomastia	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		34
HP:0000771	HP:0000771	Gynecomastia	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0000771	HP:0000771	Gynecomastia	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000771	HP:0000771	Gynecomastia	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		1
HP:0000771	HP:0000771	Gynecomastia	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		2
HP:0000771	HP:0000771	Gynecomastia	0	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.		10
HP:0000771	HP:0000771	Gynecomastia	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		10
HP:0000771	HP:0000771	Gynecomastia	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		10
HP:0000771	HP:0000771	Gynecomastia	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		177
HP:0000771	HP:0000771	Gynecomastia	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		149
HP:0000771	HP:0000771	Gynecomastia	0	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040282 - Frequent		17
HP:0000771	HP:0000771	Gynecomastia	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17
HP:0000771	HP:0000771	Gynecomastia	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		31

Genes (99) :AFF4 AIP AKT1 AKT2 ALMS1 ANOS1 AR AXL BMP6 CCDC141 CDH23 CHD7 COQ8A CPE CUL4B CYB5A CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 DCC DHX37 DMRT3 DUSP6 ERMARD FEZF1 FGF17 FGF8 FGFR1 FLRT3 FMR1 GATA4 GNRH1 GNRHR HDAC8 HESX1 HFE HPGD HS6ST1 HSD17B3 HSD3B2 IL17RD ITGA3 KISS1 KISS1R KLLN LAS1L LEP LEPR LHB MAP3K1 MECP2 MEN1 NDNF NR0B1 NR5A1 NSMF PDE11A PHF6 PIK3CA PNPLA6 POLR3A PRKAR1A PROK2 PROKR2 PSMB8 PTEN RBM28 RNF216 RSPO1 SDHB SDHC SDHD SEC23B SEMA3A SEMA3E SH3PXD2B SLC29A3 SLCO2A1 SMCHD1 SOX10 SOX9 SPRY4 SPTBN1 SRA1 SRY STK11 TAC3 TACR3 TCF20 TMEM53 USF3 VAMP7 WDR11 WT1 WWOX ZBTB20 ZFPM2

Diseases (72) :ORPHA:444077 ORPHA:2965 ORPHA:201 OMIM:615109 ORPHA:293964 OMIM:240900 ORPHA:64 OMIM:203800 OMIM:308700 ORPHA:478 OMIM:300068 ORPHA:481 ORPHA:90797 OMIM:312300 OMIM:313200 OMIM:146110 ORPHA:465508 ORPHA:91347 ORPHA:432 ORPHA:139485 OMIM:619326 OMIM:300354 ORPHA:90796 ORPHA:168558 ORPHA:289548 ORPHA:90795 OMIM:202110 ORPHA:90793 OMIM:139300 OMIM:201910 ORPHA:251510 ORPHA:75857 OMIM:147950 ORPHA:261483 ORPHA:3459 ORPHA:2796 ORPHA:752 OMIM:264300 ORPHA:90791 OMIM:614748 OMIM:614837 OMIM:309585 OMIM:614962 ORPHA:66628 ORPHA:179494 OMIM:228300 OMIM:300055 OMIM:614838 ORPHA:1359 OMIM:301900 ORPHA:127 OMIM:615108 ORPHA:1173 OMIM:264090 ORPHA:3455 OMIM:256040 OMIM:158350 OMIM:612079 ORPHA:157954 OMIM:610644 ORPHA:137834 ORPHA:168569 OMIM:602782 ORPHA:2250 OMIM:619475 ORPHA:1772 OMIM:400045 OMIM:175200 OMIM:618430 OMIM:619727 ORPHA:3042 OMIM:259050

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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