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:0000133	HP:0000133	Gonadal dysgenesis	0	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040280 - Obligate	16
HP:0000133	HP:0000133	Gonadal dysgenesis	0	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040280 - Obligate
HP:0000133	HP:0000133	Gonadal dysgenesis	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000133	HP:0000133	Gonadal dysgenesis	0	DHH CL E G H	50846	2865	OMIM:607080	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY		21
HP:0000133	HP:0000133	Gonadal dysgenesis	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:0000133	HP:0000133	Gonadal dysgenesis	0	DHH CL E G H	50846	2865	OMIM:233420	46,xy sex reversal 7		21
HP:0000133	HP:0000133	Gonadal dysgenesis	0	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0000133	HP:0000133	Gonadal dysgenesis	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000133	HP:0000133	Gonadal dysgenesis	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0000133	HP:0000133	Gonadal dysgenesis	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0000133	HP:0000133	Gonadal dysgenesis	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0000133	HP:0000133	Gonadal dysgenesis	0	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040280 - Obligate	50
HP:0000133	HP:0000133	Gonadal dysgenesis	0	FSHR CL E G H	2492	3969	OMIM:233300	Ovarian dysgenesis 1	.	50
HP:0000133	HP:0000133	Gonadal dysgenesis	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0000133	HP:0000133	Gonadal dysgenesis	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0000133	HP:0000133	Gonadal dysgenesis	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0000133	HP:0000133	Gonadal dysgenesis	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	.	98
HP:0000133	HP:0000133	Gonadal dysgenesis	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0000133	HP:0000133	Gonadal dysgenesis	0	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6		13
HP:0000133	HP:0000133	Gonadal dysgenesis	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	3
HP:0000133	HP:0000133	Gonadal dysgenesis	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0000133	HP:0000133	Gonadal dysgenesis	0	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040280 - Obligate	25
HP:0000133	HP:0000133	Gonadal dysgenesis	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0000133	HP:0000133	Gonadal dysgenesis	0	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040280 - Obligate	38
HP:0000133	HP:0000133	Gonadal dysgenesis	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0000133	HP:0000133	Gonadal dysgenesis	0	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0000133	HP:0000133	Gonadal dysgenesis	0	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38
HP:0000133	HP:0000133	Gonadal dysgenesis	0	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040280 - Obligate	5
HP:0000133	HP:0000133	Gonadal dysgenesis	0	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040280 - Obligate
HP:0000133	HP:0000133	Gonadal dysgenesis	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000133	HP:0000133	Gonadal dysgenesis	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000133	HP:0000133	Gonadal dysgenesis	0	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040280 - Obligate	2
HP:0000133	HP:0000133	Gonadal dysgenesis	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0000133	HP:0000133	Gonadal dysgenesis	0	RXYLT1 CL E G H	10329	13530	OMIM:615041	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10	.
HP:0000133	HP:0000133	Gonadal dysgenesis	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0000133	HP:0000133	Gonadal dysgenesis	0	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040280 - Obligate	2
HP:0000133	HP:0000133	Gonadal dysgenesis	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0000133	HP:0000133	Gonadal dysgenesis	0	SRY CL E G H	6736	11311	OMIM:400044	46XY sex reversal 1	.	23
HP:0000133	HP:0000133	Gonadal dysgenesis	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000133	HP:0000133	Gonadal dysgenesis	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	6
HP:0000133	HP:0000133	Gonadal dysgenesis	0	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5	.	113
HP:0000133	HP:0000133	Gonadal dysgenesis	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000133	HP:0000133	Gonadal dysgenesis	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0000133	HP:0000133	Gonadal dysgenesis	0	WT1 CL E G H	7490	12796	ORPHA:220	Denys-Drash syndrome	HP:0040283 - Occasional	177
HP:0000133	HP:0000133	Gonadal dysgenesis	0	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome	.	177
HP:0000133	HP:0000133	Gonadal dysgenesis	0	WT1 CL E G H	7490	12796	OMIM:136680	Frasier syndrome		177
HP:0000133	HP:0000133	Gonadal dysgenesis	0	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome		177
HP:0000133	HP:0000133	Gonadal dysgenesis	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0000133	HP:0000133	Gonadal dysgenesis	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0000133	HP:0000133	Gonadal dysgenesis	0	ZFPM2 CL E G H	23414	16700	OMIM:616067	46,xy sex reversal 9	.	31
HP:0000133	HP:0000133	Gonadal dysgenesis	0	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040280 - Obligate
HP:0000133	HP:0008723	Gonadal dysgenesis with female appearance, male	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:0000133	HP:0008668	Gonadal dysgenesis, male	1	DHH CL E G H	50846	2865	OMIM:233420	46,xy sex reversal 7	HP:0040281 - Very frequent	21
HP:0000133	HP:0008723	Gonadal dysgenesis with female appearance, male	1	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0000133	HP:0008723	Gonadal dysgenesis with female appearance, male	1	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome	HP:0040281 - Very frequent	177