Human Phenotype Ontology

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:0011026	HP:0011026	Aplasia/Hypoplasia of the vagina	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0011026	HP:0011026	Aplasia/Hypoplasia of the vagina	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:0011026	HP:0011026	Aplasia/Hypoplasia of the vagina	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0011026	HP:0011026	Aplasia/Hypoplasia of the vagina	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:0011026	HP:0011026	Aplasia/Hypoplasia of the vagina	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0011026	HP:0011026	Aplasia/Hypoplasia of the vagina	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0011026	HP:0011026	Aplasia/Hypoplasia of the vagina	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0011026	HP:0011026	Aplasia/Hypoplasia of the vagina	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0011026	HP:0011026	Aplasia/Hypoplasia of the vagina	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040284 - Very rare	270
HP:0011026	HP:0011026	Aplasia/Hypoplasia of the vagina	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0011026	HP:0011026	Aplasia/Hypoplasia of the vagina	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0011026	HP:0011026	Aplasia/Hypoplasia of the vagina	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0011026	HP:0011026	Aplasia/Hypoplasia of the vagina	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0011026	HP:0011026	Aplasia/Hypoplasia of the vagina	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1		59
HP:0011026	HP:0011026	Aplasia/Hypoplasia of the vagina	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome		13
HP:0011026	HP:0011026	Aplasia/Hypoplasia of the vagina	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0011026	HP:0011026	Aplasia/Hypoplasia of the vagina	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0011026	HP:0011026	Aplasia/Hypoplasia of the vagina	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0011026	HP:0011026	Aplasia/Hypoplasia of the vagina	0	WNT4 CL E G H	54361	12783	ORPHA:3109	Mayer-Rokitansky-Küster-Hauser syndrome		4
HP:0011026	HP:0011026	Aplasia/Hypoplasia of the vagina	0	WNT4 CL E G H	54361	12783	OMIM:158330	Mullerian aplasia and hyperandrogenism		4
HP:0011026	HP:0011026	Aplasia/Hypoplasia of the vagina	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0011026	HP:0011026	Aplasia/Hypoplasia of the vagina	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0011026	HP:0011026	Aplasia/Hypoplasia of the vagina	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0011026	HP:0008726	Hypoplasia of the vagina	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0011026	HP:0008726	Hypoplasia of the vagina	1	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040282 - Frequent	2
HP:0011026	HP:0008726	Hypoplasia of the vagina	1	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	.	112
HP:0011026	HP:0008726	Hypoplasia of the vagina	1	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040282 - Frequent	53
HP:0011026	HP:0008726	Hypoplasia of the vagina	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0011026	HP:0008726	Hypoplasia of the vagina	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0011026	HP:0003250	Aplasia of the vagina	1	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0011026	HP:0008726	Hypoplasia of the vagina	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0011026	HP:0008726	Hypoplasia of the vagina	1	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.	99
HP:0011026	HP:0008726	Hypoplasia of the vagina	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0011026	HP:0008726	Hypoplasia of the vagina	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0011026	HP:0008726	Hypoplasia of the vagina	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0011026	HP:0003250	Aplasia of the vagina	1	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.	59
HP:0011026	HP:0003250	Aplasia of the vagina	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0011026	HP:0008726	Hypoplasia of the vagina	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0011026	HP:0008726	Hypoplasia of the vagina	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0011026	HP:0008726	Hypoplasia of the vagina	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0011026	HP:0008726	Hypoplasia of the vagina	1	WNT4 CL E G H	54361	12783	ORPHA:3109	Mayer-Rokitansky-Küster-Hauser syndrome	HP:0040281 - Very frequent	4
HP:0011026	HP:0003250	Aplasia of the vagina	1	WNT4 CL E G H	54361	12783	OMIM:158330	Mullerian aplasia and hyperandrogenism	HP:0040281 - Very frequent	4
HP:0011026	HP:0008726	Hypoplasia of the vagina	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0011026	HP:0008726	Hypoplasia of the vagina	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0011026	HP:0008726	Hypoplasia of the vagina	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0011026	HP:0012674	Aplasia of the lower vagina	2	CL E G H
HP:0011026	HP:0012673	Aplasia of the upper vagina	2	CL E G H