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:0012244	HP:0012244	Abnormal sex determination	0	AKR1C2 CL E G H	1646	385	OMIM:614279	46,xy sex reversal 8		7
HP:0012244	HP:0012244	Abnormal sex determination	0	AKR1C4 CL E G H	1109	387	OMIM:614279	46,xy sex reversal 8		3
HP:0012244	HP:0012244	Abnormal sex determination	0	CBX2 CL E G H	84733	1552	OMIM:613080	46XY sex reversal 5		3
HP:0012244	HP:0012244	Abnormal sex determination	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0012244	HP:0012244	Abnormal sex determination	0	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040283 - Occasional	2
HP:0012244	HP:0012244	Abnormal sex determination	0	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:0012244	HP:0012244	Abnormal sex determination	0	CYP11A1 CL E G H	1583	2590	OMIM:613743	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete		31
HP:0012244	HP:0012244	Abnormal sex determination	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0012244	HP:0012244	Abnormal sex determination	0	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040283 - Occasional	53
HP:0012244	HP:0012244	Abnormal sex determination	0	DHH CL E G H	50846	2865	OMIM:233420	46,xy sex reversal 7		21
HP:0012244	HP:0012244	Abnormal sex determination	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0012244	HP:0012244	Abnormal sex determination	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0012244	HP:0012244	Abnormal sex determination	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0012244	HP:0012244	Abnormal sex determination	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0012244	HP:0012244	Abnormal sex determination	0	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6		13
HP:0012244	HP:0012244	Abnormal sex determination	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0012244	HP:0012244	Abnormal sex determination	0	NR0B1 CL E G H	190	7960	OMIM:300018	Dosage-Sensitive sex reversal		48
HP:0012244	HP:0012244	Abnormal sex determination	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0012244	HP:0012244	Abnormal sex determination	0	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0012244	HP:0012244	Abnormal sex determination	0	RSPO1 CL E G H	284654	21679	ORPHA:85112	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome		3
HP:0012244	HP:0012244	Abnormal sex determination	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0012244	HP:0012244	Abnormal sex determination	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0012244	HP:0012244	Abnormal sex determination	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0012244	HP:0012244	Abnormal sex determination	0	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1		23
HP:0012244	HP:0012244	Abnormal sex determination	0	SRY CL E G H	6736	11311	OMIM:400044	46XY sex reversal 1		23
HP:0012244	HP:0012244	Abnormal sex determination	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0012244	HP:0012244	Abnormal sex determination	0	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs		4
HP:0012244	HP:0012244	Abnormal sex determination	0	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome		4
HP:0012244	HP:0012244	Abnormal sex determination	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0012244	HP:0012244	Abnormal sex determination	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0012244	HP:0012244	Abnormal sex determination	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0012244	HP:0012244	Abnormal sex determination	0	ZFPM2 CL E G H	23414	16700	OMIM:616067	46,xy sex reversal 9		31
HP:0012244	HP:0012245	Sex reversal	1	AKR1C2 CL E G H	1646	385	OMIM:614279	46,xy sex reversal 8	.	7
HP:0012244	HP:0012245	Sex reversal	1	AKR1C4 CL E G H	1109	387	OMIM:614279	46,xy sex reversal 8	.	3
HP:0012244	HP:0012245	Sex reversal	1	CBX2 CL E G H	84733	1552	OMIM:613080	46XY sex reversal 5	.	3
HP:0012244	HP:0012245	Sex reversal	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0012244	HP:0012245	Sex reversal	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:0012244	HP:0012245	Sex reversal	1	CYP11A1 CL E G H	1583	2590	OMIM:613743	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete	.	31
HP:0012244	HP:0012245	Sex reversal	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:0012244	HP:0012245	Sex reversal	1	DHH CL E G H	50846	2865	OMIM:233420	46,xy sex reversal 7	.	21
HP:0012244	HP:0012245	Sex reversal	1	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6	.	13
HP:0012244	HP:0012245	Sex reversal	1	NR0B1 CL E G H	190	7960	OMIM:300018	Dosage-Sensitive sex reversal	.	48
HP:0012244	HP:0012245	Sex reversal	1	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0012244	HP:0012245	Sex reversal	1	RSPO1 CL E G H	284654	21679	ORPHA:85112	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome	HP:0040281 - Very frequent	3
HP:0012244	HP:0012245	Sex reversal	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0012244	HP:0012245	Sex reversal	1	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1	.	23
HP:0012244	HP:0012245	Sex reversal	1	SRY CL E G H	6736	11311	OMIM:400044	46XY sex reversal 1	.	23
HP:0012244	HP:0012245	Sex reversal	1	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	.	4
HP:0012244	HP:0012245	Sex reversal	1	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome	HP:0040280 - Obligate	4
HP:0012244	HP:0012245	Sex reversal	1	ZFPM2 CL E G H	23414	16700	OMIM:616067	46,xy sex reversal 9	.	31