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
..Aplasia/Hypoplasia of the breasts (HP:0010311)

Term ID:

10311

Name:

Aplasia/Hypoplasia of the breasts

Synonym:

Absent/small breasts; Absent/underdeveloped breasts

Definition:

Absence or underdevelopment of the breasts.

Comments:

Reference:

HP:0010311

Genes and Diseases:

Child Nodes:

........

Breast hypoplasia (HP:0003187)

................... HP:0012813 Unilateral breast hypoplasia
................... HP:0012814 Bilateral breast hypoplasia

........

Breast aplasia (HP:0100783)

Sister Nodes:

Abnormal nipple morphology (HP:0004404)

Asymmetry of the breasts (HP:0010312)

Breast hypertrophy (HP:0010313)

Gynecomastia (HP:0000771)

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	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040282 - Frequent	72
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome		65
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	16
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4		50
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome		515
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		515
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome		36
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome		4
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		4
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome		13
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome		2
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome		3
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome		17
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		17
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome		172
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		172
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome		4
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency		23
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	50
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	173
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		15
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		92
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	21
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome		21
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome		8
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		8
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome		9
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome		11
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		14
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	43
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy		645
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	25
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type		55
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	38
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	5
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2		21
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	41
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	36
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome		9
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		9
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome		34
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	54
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	54
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	2
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome		3
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome		14
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome		61
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	24
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	2
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome		5
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		5
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome		34
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome		140
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome		140
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional	140
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome		7
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome		10
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		10
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0010311	HP:0010311	Aplasia/Hypoplasia of the breasts	0	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0010311	HP:0003187	Breast hypoplasia	1	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	65
HP:0010311	HP:0003187	Breast hypoplasia	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0010311	HP:0003187	Breast hypoplasia	1	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent
HP:0010311	HP:0100783	Breast aplasia	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	9
HP:0010311	HP:0100783	Breast aplasia	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0010311	HP:0100783	Breast aplasia	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	31
HP:0010311	HP:0100783	Breast aplasia	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	50
HP:0010311	HP:0003187	Breast hypoplasia	1	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.	50
HP:0010311	HP:0003187	Breast hypoplasia	1	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	515
HP:0010311	HP:0003187	Breast hypoplasia	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	515
HP:0010311	HP:0003187	Breast hypoplasia	1	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	36
HP:0010311	HP:0003187	Breast hypoplasia	1	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	4
HP:0010311	HP:0003187	Breast hypoplasia	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	4
HP:0010311	HP:0100783	Breast aplasia	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare	134
HP:0010311	HP:0003187	Breast hypoplasia	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0010311	HP:0003187	Breast hypoplasia	1	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040281 - Very frequent	13
HP:0010311	HP:0003187	Breast hypoplasia	1	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	2
HP:0010311	HP:0003187	Breast hypoplasia	1	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	3
HP:0010311	HP:0003187	Breast hypoplasia	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0010311	HP:0003187	Breast hypoplasia	1	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	17
HP:0010311	HP:0003187	Breast hypoplasia	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	17
HP:0010311	HP:0003187	Breast hypoplasia	1	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	172
HP:0010311	HP:0003187	Breast hypoplasia	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	172
HP:0010311	HP:0003187	Breast hypoplasia	1	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	4
HP:0010311	HP:0003187	Breast hypoplasia	1	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency		23
HP:0010311	HP:0100783	Breast aplasia	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	3
HP:0010311	HP:0003187	Breast hypoplasia	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	15
HP:0010311	HP:0003187	Breast hypoplasia	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	92
HP:0010311	HP:0003187	Breast hypoplasia	1	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	21
HP:0010311	HP:0003187	Breast hypoplasia	1	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	8
HP:0010311	HP:0003187	Breast hypoplasia	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	8
HP:0010311	HP:0100783	Breast aplasia	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0010311	HP:0003187	Breast hypoplasia	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0010311	HP:0003187	Breast hypoplasia	1	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	9
HP:0010311	HP:0100783	Breast aplasia	1	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040281 - Very frequent	11
HP:0010311	HP:0100783	Breast aplasia	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.	11
HP:0010311	HP:0003187	Breast hypoplasia	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0010311	HP:0003187	Breast hypoplasia	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	14
HP:0010311	HP:0100783	Breast aplasia	1	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040283 - Occasional	645
HP:0010311	HP:0003187	Breast hypoplasia	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional	21
HP:0010311	HP:0100783	Breast aplasia	1	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040283 - Occasional
HP:0010311	HP:0003187	Breast hypoplasia	1	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent
HP:0010311	HP:0003187	Breast hypoplasia	1	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type		55
HP:0010311	HP:0003187	Breast hypoplasia	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0010311	HP:0100783	Breast aplasia	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	53
HP:0010311	HP:0003187	Breast hypoplasia	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0010311	HP:0100783	Breast aplasia	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	21
HP:0010311	HP:0003187	Breast hypoplasia	1	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.	21
HP:0010311	HP:0100783	Breast aplasia	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	39
HP:0010311	HP:0003187	Breast hypoplasia	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0010311	HP:0100783	Breast aplasia	1	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional
HP:0010311	HP:0003187	Breast hypoplasia	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	HP:0040283 - Occasional	10
HP:0010311	HP:0003187	Breast hypoplasia	1	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	9
HP:0010311	HP:0003187	Breast hypoplasia	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	9
HP:0010311	HP:0003187	Breast hypoplasia	1	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	34
HP:0010311	HP:0003187	Breast hypoplasia	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0010311	HP:0100783	Breast aplasia	1	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional	3
HP:0010311	HP:0003187	Breast hypoplasia	1	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	14
HP:0010311	HP:0003187	Breast hypoplasia	1	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	61
HP:0010311	HP:0003187	Breast hypoplasia	1	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	5
HP:0010311	HP:0003187	Breast hypoplasia	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	5
HP:0010311	HP:0003187	Breast hypoplasia	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0010311	HP:0003187	Breast hypoplasia	1	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	34
HP:0010311	HP:0003187	Breast hypoplasia	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0010311	HP:0003187	Breast hypoplasia	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0010311	HP:0100783	Breast aplasia	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional	100
HP:0010311	HP:0003187	Breast hypoplasia	1	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040282 - Frequent	140
HP:0010311	HP:0003187	Breast hypoplasia	1	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0010311	HP:0100783	Breast aplasia	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040282 - Frequent	140
HP:0010311	HP:0003187	Breast hypoplasia	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0010311	HP:0003187	Breast hypoplasia	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent	7
HP:0010311	HP:0100783	Breast aplasia	1	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040282 - Frequent	7
HP:0010311	HP:0003187	Breast hypoplasia	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0010311	HP:0003187	Breast hypoplasia	1	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	10
HP:0010311	HP:0003187	Breast hypoplasia	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	10
HP:0010311	HP:0003187	Breast hypoplasia	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0010311	HP:0012813	Unilateral breast hypoplasia	2	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0010311	HP:0012814	Bilateral breast hypoplasia	2	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040282 - Frequent	23
HP:0010311	HP:0012814	Bilateral breast hypoplasia	2	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent	55
HP:0010311	HP:0012814	Bilateral breast hypoplasia	2	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040282 - Frequent	140
HP:0010311	HP:0012813	Unilateral breast hypoplasia	2	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27

Genes (71) :ACTB ANOS1 ANTXR1 BMP15 BNC1 CCDC141 CDC45 CDC6 CDT1 CHD7 DCC DUSP6 DYRK1A EFNB1 ESR1 FEZF1 FGF17 FGF8 FGFR1 FLRT3 FOXA2 FSHB FSHR GLI2 GMNN GNRH1 GNRHR HESX1 HS6ST1 IKBKG IL17RD KCTD1 KISS1 KISS1R LHX4 LMNA MAF MRPS22 MTX2 NDNF NIN NR5A1 NSMF NUP107 ORC1 ORC4 ORC6 OTX2 PLXND1 POC1A POLR3H POU1F1 PROK2 PROKR2 PROP1 PSMC3IP REV3L SEMA3A SOX10 SOX3 SPIDR SPRY4 TAC3 TACR3 TBX3 TP63 TWIST2 USP9X WDR11 YY1 ZSWIM7

Diseases (35) :ORPHA:64755 ORPHA:478 OMIM:230740 ORPHA:243 ORPHA:2554 OMIM:617063 OMIM:613804 ORPHA:432 ORPHA:268261 OMIM:304110 ORPHA:785 ORPHA:95494 ORPHA:52901 OMIM:308300 OMIM:181270 ORPHA:2036 ORPHA:90153 ORPHA:1272 ORPHA:319675 OMIM:224690 OMIM:613800 OMIM:613803 ORPHA:570 OMIM:614813 ORPHA:90695 ORPHA:3138 OMIM:181450 ORPHA:978 OMIM:103285 ORPHA:1896 ORPHA:69085 ORPHA:920 ORPHA:1231 OMIM:300968 ORPHA:506358

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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