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:0010789	HP:0010789	Abnormality of the Leydig cells	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0010789	HP:0010789	Abnormality of the Leydig cells	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:0010789	HP:0010789	Abnormality of the Leydig cells	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:0010789	HP:0010789	Abnormality of the Leydig cells	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency		23
HP:0010789	HP:0010789	Abnormality of the Leydig cells	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome		101
HP:0010789	HP:0010789	Abnormality of the Leydig cells	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia	.	9
HP:0010789	HP:0010789	Abnormality of the Leydig cells	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency		94
HP:0010789	HP:0010789	Abnormality of the Leydig cells	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency		26
HP:0010789	HP:0010789	Abnormality of the Leydig cells	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency		13
HP:0010789	HP:0010789	Abnormality of the Leydig cells	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0010789	HP:0010789	Abnormality of the Leydig cells	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0010789	HP:0010789	Abnormality of the Leydig cells	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare	19
HP:0010789	HP:0010789	Abnormality of the Leydig cells	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency		45
HP:0010789	HP:0010789	Abnormality of the Leydig cells	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency		85
HP:0010789	HP:0010790	Hyoplasia of the Leydig cells	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0010789	HP:0010791	Hyperplasia of the Leydig cells	1	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040282 - Frequent	23
HP:0010789	HP:0010791	Hyperplasia of the Leydig cells	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040283 - Occasional	101
HP:0010789	HP:0100618	Leydig cell neoplasia	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	94
HP:0010789	HP:0100618	Leydig cell neoplasia	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	26
HP:0010789	HP:0100618	Leydig cell neoplasia	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	13
HP:0010789	HP:0100618	Leydig cell neoplasia	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0010789	HP:0100618	Leydig cell neoplasia	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0010789	HP:0100618	Leydig cell neoplasia	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	45
HP:0010789	HP:0100618	Leydig cell neoplasia	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	85