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 uterus (HP:0000130)

Parent Node:
Aplasia/hypoplasia of the uterus (HP:0008684)

..Starting node
..Hypoplasia of the uterus (HP:0000013)

Term ID:

Name:

Hypoplasia of the uterus

Synonym:

Hypoplastic uterus; Rudimentary uterus; Small uterus; Underdeveloped uterus

Definition:

Underdevelopment of the uterus.

Comments:

Reference:

HP:0000013

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia of the uterus (HP:0000151)

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:0000013	HP:0000013	Hypoplasia of the uterus	0	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2	.	16
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type	.	90
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	515
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	CLPP CL E G H	8192	2084	OMIM:614129	Perrault syndrome 3	.	13
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent	2
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	.	112
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent	53
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.	87
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	HP:0040281 - Very frequent	21
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	DHH CL E G H	50846	2865	OMIM:233420	46,xy sex reversal 7	HP:0040282 - Frequent	21
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	4
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	ERAL1 CL E G H	26284	3424	OMIM:617565	PERRAULT SYNDROME 6; PRLTS6		1
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance	.	13
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040281 - Very frequent	13
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	3
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	17
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	172
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis	.	92
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	FOXL2 CL E G H	668	1092	OMIM:608996	Premature ovarian failure 3	.	92
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia	.	15
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	15
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	92
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	8
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.	99
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	KISS1 CL E G H	3814	6341	OMIM:614842	Hypogonadotropic hypogonadism 13 with or without anosmia	.	3
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	3
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia	.	14
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	14
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	MRPS22 CL E G H	56945	14508	OMIM:618117	Ovarian dysgenesis 7	.	25
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	MSH5 CL E G H	4439	7328	OMIM:617442	Premature ovarian failure 13		5
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.	55
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3	HP:0040283 - Occasional	38
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	6
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	NUP107 CL E G H	57122	29914	OMIM:618078	Ovarian dysgenesis 6	.	5
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	9
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	34
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	SOHLH1 CL E G H	402381	27845	OMIM:617690	Ovarian dysgenesis 5	.	3
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	5
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	6
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	34
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	10
HP:0000013	HP:0000013	Hypoplasia of the uterus	0	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040281 - Very frequent	4

Genes (49) :ADH5 B3GLCT BMP15 BMPR1B C14ORF39 CHD7 CLPP COX7B CYB5A CYP11B1 CYP17A1 DCAF17 DHH DUSP6 ERAL1 ESR1 FGF17 FGF8 FGFR1 FIGLA FOXL2 GNRH1 GNRHR HCCS HNF1B HS6ST1 IRF6 KISS1 KISS1R LARS2 MRPS22 MSH5 NDUFB11 NIN NR5A1 NSMF NUP107 PPP2R3C PROK2 PROKR2 SOHLH1 SOX11 SPIDR SPRY4 STRA6 TAC3 TACR3 WDR11 WNT4

Diseases (40) :OMIM:619151 ORPHA:709 OMIM:261540 OMIM:300510 OMIM:609441 OMIM:619203 ORPHA:432 OMIM:614129 OMIM:309801 ORPHA:90796 OMIM:202010 OMIM:241080 ORPHA:3464 ORPHA:168563 OMIM:233420 OMIM:617565 OMIM:615363 ORPHA:785 OMIM:612310 OMIM:110100 ORPHA:572333 OMIM:608996 OMIM:614841 OMIM:137920 OMIM:119500 OMIM:614842 OMIM:614837 OMIM:615300 OMIM:618117 OMIM:617442 OMIM:614851 OMIM:612965 OMIM:612964 OMIM:618078 OMIM:618419 OMIM:617690 OMIM:615866 OMIM:619665 OMIM:601186 ORPHA:247768

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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