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 morphology of female internal genitalia (HP:0000008)

Parent Node:
Abnormality of the uterus (HP:0000130)

..Starting node
..Aplasia/hypoplasia of the uterus (HP:0008684)

Term ID:

8684

Name:

Aplasia/hypoplasia of the uterus

Synonym:

Absent/small uterus; Absent/underdeveloped uterus

Definition:

Absence or developmental hypoplasia of the uterus.

Comments:

Reference:

HP:0008684

Genes and Diseases:

Child Nodes:

........

Hypoplasia of the uterus (HP:0000013)

........

Aplasia of the uterus (HP:0000151)

Sister Nodes:

Abnormal uterine cervix morphology (HP:0012888)

Abnormal uterus morphology (HP:0031105)

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:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome		125
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	16
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2		16
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		515
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	CLPP CL E G H	8192	2084	OMIM:614129	Perrault syndrome 3		13
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0008684	HP:0008684	Aplasia/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		2
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0008684	HP:0008684	Aplasia/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:0008684	HP:0008684	Aplasia/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		53
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome		87
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome		87
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome		21
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	DHH CL E G H	50846	2865	OMIM:233420	46,xy sex reversal 7		21
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		4
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	ERAL1 CL E G H	26284	3424	OMIM:617565	PERRAULT SYNDROME 6; PRLTS6		1
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance		13
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome		13
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		17
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		172
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis		92
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus		92
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	FOXL2 CL E G H	668	1092	OMIM:608996	Premature ovarian failure 3		92
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	50
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome		83
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040284 - Very rare	270
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia		15
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		15
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		92
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		8
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	KISS1 CL E G H	3814	6341	OMIM:614842	Hypogonadotropic hypogonadism 13 with or without anosmia		3
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia		14
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		14
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7		3
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	25
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	MRPS22 CL E G H	56945	14508	OMIM:618117	Ovarian dysgenesis 7		25
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	MSH5 CL E G H	4439	7328	OMIM:617442	Premature ovarian failure 13		5
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7		55
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	38
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	5
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	NUP107 CL E G H	57122	29914	OMIM:618078	Ovarian dysgenesis 6		5
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome		13
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		9
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	2
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	SOHLH1 CL E G H	402381	27845	OMIM:617690	Ovarian dysgenesis 5		3
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	2
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		5
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9		71
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7		6
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		10
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	WNT4 CL E G H	54361	12783	ORPHA:3109	Mayer-Rokitansky-Küster-Hauser syndrome		4
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism		4
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	WNT4 CL E G H	54361	12783	OMIM:158330	Mullerian aplasia and hyperandrogenism		4
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type		13
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0008684	HP:0008684	Aplasia/hypoplasia of the uterus	0	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0008684	HP:0000151	Aplasia of the uterus	1	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0008684	HP:0000151	Aplasia of the uterus	1	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0008684	HP:0000151	Aplasia of the uterus	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2	.	16
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type	.	90
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	515
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	CLPP CL E G H	8192	2084	OMIM:614129	Perrault syndrome 3	.	13
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0008684	HP:0000151	Aplasia of the uterus	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	1
HP:0008684	HP:0000151	Aplasia of the uterus	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	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:0008684	HP:0000151	Aplasia of the uterus	1	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:0008684	HP:0000151	Aplasia of the uterus	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	.	112
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	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:0008684	HP:0000151	Aplasia of the uterus	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040283 - Occasional	53
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.	87
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	HP:0040281 - Very frequent	21
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	DHH CL E G H	50846	2865	OMIM:233420	46,xy sex reversal 7	HP:0040282 - Frequent	21
HP:0008684	HP:0000151	Aplasia of the uterus	1	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	4
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	ERAL1 CL E G H	26284	3424	OMIM:617565	PERRAULT SYNDROME 6; PRLTS6		1
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance	.	13
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040281 - Very frequent	13
HP:0008684	HP:0000151	Aplasia of the uterus	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	3
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	17
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	172
HP:0008684	HP:0000151	Aplasia of the uterus	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis	.	92
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	FOXL2 CL E G H	668	1092	OMIM:608996	Premature ovarian failure 3	.	92
HP:0008684	HP:0000151	Aplasia of the uterus	1	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0008684	HP:0000151	Aplasia of the uterus	1	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040284 - Very rare	83
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia	.	15
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	15
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	92
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	8
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.	99
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	KISS1 CL E G H	3814	6341	OMIM:614842	Hypogonadotropic hypogonadism 13 with or without anosmia	.	3
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	3
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia	.	14
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	14
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0008684	HP:0000151	Aplasia of the uterus	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0008684	HP:0000151	Aplasia of the uterus	1	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	3
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	MRPS22 CL E G H	56945	14508	OMIM:618117	Ovarian dysgenesis 7	.	25
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	MSH5 CL E G H	4439	7328	OMIM:617442	Premature ovarian failure 13		5
HP:0008684	HP:0000151	Aplasia of the uterus	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.	2
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.	55
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3	HP:0040283 - Occasional	38
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38
HP:0008684	HP:0000151	Aplasia of the uterus	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	118
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	6
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	NUP107 CL E G H	57122	29914	OMIM:618078	Ovarian dysgenesis 6	.	5
HP:0008684	HP:0000151	Aplasia of the uterus	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	9
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	34
HP:0008684	HP:0000151	Aplasia of the uterus	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional	10
HP:0008684	HP:0000151	Aplasia of the uterus	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	SOHLH1 CL E G H	402381	27845	OMIM:617690	Ovarian dysgenesis 5	.	3
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	5
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	6
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	34
HP:0008684	HP:0000151	Aplasia of the uterus	1	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	6
HP:0008684	HP:0000151	Aplasia of the uterus	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040284 - Very rare	140
HP:0008684	HP:0000151	Aplasia of the uterus	1	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	10
HP:0008684	HP:0000151	Aplasia of the uterus	1	WNT4 CL E G H	54361	12783	ORPHA:3109	Mayer-Rokitansky-Küster-Hauser syndrome	HP:0040281 - Very frequent	4
HP:0008684	HP:0000013	Hypoplasia of the uterus	1	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040281 - Very frequent	4
HP:0008684	HP:0000151	Aplasia of the uterus	1	WNT4 CL E G H	54361	12783	OMIM:158330	Mullerian aplasia and hyperandrogenism	HP:0040281 - Very frequent	4
HP:0008684	HP:0000151	Aplasia of the uterus	1	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040282 - Frequent	13
HP:0008684	HP:0000151	Aplasia of the uterus	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	HP:0040283 - Occasional	13

Genes (74) :ADH5 AR ARID1B B3GLCT BMP15 BMPR1B BNC1 C14ORF39 CHD7 CLPP COX7B CPLX1 CTBP1 CYB5A CYP11A1 CYP11B1 CYP17A1 DCAF17 DHH DHX37 DUSP6 ERAL1 ESR1 FANCL FGF17 FGF8 FGFR1 FGFRL1 FIGLA FOXL2 FSHR GATA3 GLI3 GNRH1 GNRHR HCCS HNF1B HS6ST1 IRF6 KISS1 KISS1R LARS2 LETM1 MINPP1 MRPS22 MSH5 MYRF NDUFB11 NIN NR5A1 NSD2 NSMF NUP107 POLR3H PPP2R1A PPP2R3C PROK2 PROKR2 PSMC3IP RBM8A SOHLH1 SOX11 SPIDR SPRY4 STRA6 TAC3 TACR3 TOE1 TP63 TXNDC15 WDR11 WNT4 WNT7A ZSWIM7

Diseases (64) :OMIM:619151 ORPHA:99429 ORPHA:90797 OMIM:135900 ORPHA:709 OMIM:261540 ORPHA:243 OMIM:300510 OMIM:609441 OMIM:619203 ORPHA:432 OMIM:614129 OMIM:309801 OMIM:194190 ORPHA:90796 ORPHA:168558 ORPHA:289548 OMIM:202010 ORPHA:90793 ORPHA:3464 OMIM:241080 ORPHA:168563 OMIM:233420 OMIM:273250 OMIM:617565 OMIM:615363 ORPHA:785 OMIM:614083 OMIM:612310 OMIM:110100 ORPHA:572333 OMIM:608996 OMIM:146255 ORPHA:2237 ORPHA:672 OMIM:614841 OMIM:137920 OMIM:119500 OMIM:614842 OMIM:614837 OMIM:615300 ORPHA:284339 OMIM:618117 OMIM:617442 OMIM:618280 OMIM:614851 OMIM:612965 OMIM:612964 OMIM:618078 ORPHA:457284 OMIM:618419 ORPHA:3320 OMIM:274000 OMIM:617690 OMIM:615866 OMIM:619665 OMIM:601186 ORPHA:69085 OMIM:619879 ORPHA:3109 ORPHA:247768 OMIM:158330 ORPHA:2879 OMIM:276820

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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