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:
Abnormal breast morphology (HP:0031093)

Parent Node:
Aplasia/Hypoplasia of the breasts (HP:0010311)

..Starting node
..Breast hypoplasia (HP:0003187)

Term ID:

3187

Name:

Breast hypoplasia

Synonym:

Underdeveloped breasts

Definition:

Underdevelopment of the breast.

Comments:

Reference:

HP:0003187

Genes and Diseases:

Child Nodes:

........

Unilateral breast hypoplasia (HP:0012813)

........

Bilateral breast hypoplasia (HP:0012814)

Sister Nodes:

Breast aplasia (HP:0100783)

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:0003187	HP:0003187	Breast hypoplasia	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	65
HP:0003187	HP:0003187	Breast hypoplasia	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0003187	HP:0003187	Breast hypoplasia	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent
HP:0003187	HP:0003187	Breast hypoplasia	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.	50
HP:0003187	HP:0003187	Breast hypoplasia	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	515
HP:0003187	HP:0003187	Breast hypoplasia	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	515
HP:0003187	HP:0003187	Breast hypoplasia	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	36
HP:0003187	HP:0003187	Breast hypoplasia	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	4
HP:0003187	HP:0003187	Breast hypoplasia	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	4
HP:0003187	HP:0003187	Breast hypoplasia	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0003187	HP:0003187	Breast hypoplasia	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040281 - Very frequent	13
HP:0003187	HP:0003187	Breast hypoplasia	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	2
HP:0003187	HP:0003187	Breast hypoplasia	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	3
HP:0003187	HP:0003187	Breast hypoplasia	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0003187	HP:0003187	Breast hypoplasia	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	17
HP:0003187	HP:0003187	Breast hypoplasia	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	17
HP:0003187	HP:0003187	Breast hypoplasia	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	172
HP:0003187	HP:0003187	Breast hypoplasia	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	172
HP:0003187	HP:0003187	Breast hypoplasia	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	4
HP:0003187	HP:0003187	Breast hypoplasia	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency		23
HP:0003187	HP:0003187	Breast hypoplasia	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	15
HP:0003187	HP:0003187	Breast hypoplasia	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	92
HP:0003187	HP:0003187	Breast hypoplasia	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	21
HP:0003187	HP:0003187	Breast hypoplasia	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	8
HP:0003187	HP:0003187	Breast hypoplasia	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	8
HP:0003187	HP:0003187	Breast hypoplasia	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0003187	HP:0003187	Breast hypoplasia	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	9
HP:0003187	HP:0003187	Breast hypoplasia	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0003187	HP:0003187	Breast hypoplasia	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	14
HP:0003187	HP:0003187	Breast hypoplasia	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional	21
HP:0003187	HP:0003187	Breast hypoplasia	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent
HP:0003187	HP:0003187	Breast hypoplasia	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type		55
HP:0003187	HP:0003187	Breast hypoplasia	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0003187	HP:0003187	Breast hypoplasia	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0003187	HP:0003187	Breast hypoplasia	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.	21
HP:0003187	HP:0003187	Breast hypoplasia	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0003187	HP:0003187	Breast hypoplasia	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	HP:0040283 - Occasional	10
HP:0003187	HP:0003187	Breast hypoplasia	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	9
HP:0003187	HP:0003187	Breast hypoplasia	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	9
HP:0003187	HP:0003187	Breast hypoplasia	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	34
HP:0003187	HP:0003187	Breast hypoplasia	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0003187	HP:0003187	Breast hypoplasia	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	14
HP:0003187	HP:0003187	Breast hypoplasia	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	61
HP:0003187	HP:0003187	Breast hypoplasia	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	5
HP:0003187	HP:0003187	Breast hypoplasia	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	5
HP:0003187	HP:0003187	Breast hypoplasia	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0003187	HP:0003187	Breast hypoplasia	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	34
HP:0003187	HP:0003187	Breast hypoplasia	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0003187	HP:0003187	Breast hypoplasia	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0003187	HP:0003187	Breast hypoplasia	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0003187	HP:0003187	Breast hypoplasia	0	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040282 - Frequent	140
HP:0003187	HP:0003187	Breast hypoplasia	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0003187	HP:0003187	Breast hypoplasia	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent	7
HP:0003187	HP:0003187	Breast hypoplasia	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0003187	HP:0003187	Breast hypoplasia	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	10
HP:0003187	HP:0003187	Breast hypoplasia	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	10
HP:0003187	HP:0003187	Breast hypoplasia	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0003187	HP:0012813	Unilateral breast hypoplasia	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0003187	HP:0012814	Bilateral breast hypoplasia	1	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040282 - Frequent	23
HP:0003187	HP:0012814	Bilateral breast hypoplasia	1	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent	55
HP:0003187	HP:0012814	Bilateral breast hypoplasia	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040282 - Frequent	140
HP:0003187	HP:0012813	Unilateral breast hypoplasia	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27

Genes (44) :ANOS1 ANTXR1 CCDC141 CDT1 CHD7 DCC DUSP6 EFNB1 ESR1 FEZF1 FGF17 FGF8 FGFR1 FLRT3 FSHB GNRH1 GNRHR HESX1 HS6ST1 IKBKG IL17RD KISS1 KISS1R MAF NDNF NIN NSMF ORC1 ORC4 ORC6 POC1A PROK2 PROKR2 SEMA3A SOX10 SPRY4 TAC3 TACR3 TBX3 TP63 TWIST2 USP9X WDR11 YY1

Diseases (21) :ORPHA:478 OMIM:230740 OMIM:613804 ORPHA:432 OMIM:304110 ORPHA:785 ORPHA:52901 OMIM:308300 ORPHA:1272 ORPHA:319675 OMIM:224690 OMIM:613800 OMIM:613803 OMIM:614813 OMIM:181450 OMIM:103285 ORPHA:978 ORPHA:69085 ORPHA:920 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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