Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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 circulating hormone concentration (HP:0003117)

Parent Node:
Abnormal circulating androgen level (HP:0030347)

..Starting node
..Decreased circulating androgen concentration (HP:0030349)

Term ID:

30349

Name:

Decreased circulating androgen concentration

Synonym:

Decreased circulating androgen level

Definition:

A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.

Comments:

Reference:

HP:0030349

Genes and Diseases:

Child Nodes:

........

Decreased serum testosterone level (HP:0040171)

................... HP:0008230 Decreased testosterone in males

Sister Nodes:

Abnormal circulating dehydroepiandrosterone concentration (HP:0500022)

Abnormal circulating testosterone concentration (HP:0030087)

Increased circulating androgen concentration (HP:0030348)

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:0030349	HP:0030349	Decreased circulating androgen concentration	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26		25
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive		25
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		515
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	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:0030349	HP:0030349	Decreased circulating androgen concentration	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:0030349	HP:0030349	Decreased circulating androgen concentration	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:0030349	HP:0030349	Decreased circulating androgen concentration	0	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:0030349	HP:0030349	Decreased circulating androgen concentration	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome		87
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome		87
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome		21
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome		3
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		4
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		17
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		172
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency		23
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia		15
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		15
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		92
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1		38
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		8
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		14
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	LGR4 CL E G H	55366	13299	OMIM:619613	DELAYED PUBERTY, SELF-LIMITED; DPSL		1
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	NDNF CL E G H	79625	26256	OMIM:618841	HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040283 - Occasional	11
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type		2
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		9
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome		1
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		5
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		10
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0030349	HP:0030349	Decreased circulating androgen concentration	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040284 - Very rare	25
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	HP:0040283 - Occasional	25
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	515
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0030349	HP:0040171	Decreased serum testosterone concentration	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:0030349	HP:0040171	Decreased serum testosterone concentration	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:0030349	HP:0040171	Decreased serum testosterone concentration	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040281 - Very frequent	53
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.	87
HP:0030349	HP:0040171	Decreased serum testosterone concentration	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:0030349	HP:0040171	Decreased serum testosterone concentration	1	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent	3
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	4
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	17
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	172
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040281 - Very frequent	23
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia	.	15
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	15
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	92
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional	38
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	8
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent	34
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	14
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent	47
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent	46
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	LGR4 CL E G H	55366	13299	OMIM:619613	DELAYED PUBERTY, SELF-LIMITED; DPSL		1
HP:0030349	HP:0033810	Decreased circulating dihydrotestosterone concentration	1	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia	.	9
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	NDNF CL E G H	79625	26256	OMIM:618841	HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040282 - Frequent	2
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	9
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent	1
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.	55
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	5
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	10
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0030349	HP:0040171	Decreased serum testosterone concentration	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31

Genes (66) :AKT1 ANOS1 B4GALNT1 BAP1 BMP6 CHD7 CPE CYB5A CYP11A1 CYP17A1 DCAF17 DHH DHX37 DMRT3 DMXL2 DUSP6 FGD1 FGF17 FGF8 FGFR1 FSHB GATA4 GCNA GNRH1 GNRHR HFE HS6ST1 HSD3B2 KISS1 KISS1R LEP LEPR LGR4 LHB MAP3K1 NDNF NF2 NFKB2 NR0B1 NR5A1 NSMF PDGFB PIK3CA POLA1 POR PROK2 PROKR2 RBM28 SEMA3A SLC39A4 SMARCB1 SMARCE1 SMO SOX9 SPRY4 SRY SUFU TAC3 TACR3 TERT TRAF7 VAMP7 WDR11 WT1 WWOX ZFPM2

Diseases (34) :ORPHA:2495 OMIM:308700 ORPHA:101006 OMIM:609195 ORPHA:465508 ORPHA:432 OMIM:619326 ORPHA:90796 ORPHA:168558 ORPHA:289548 ORPHA:90793 ORPHA:3464 OMIM:241080 ORPHA:168563 OMIM:273250 ORPHA:251510 ORPHA:453533 OMIM:305400 ORPHA:52901 OMIM:301077 OMIM:614841 ORPHA:90791 ORPHA:66628 ORPHA:179494 OMIM:619613 OMIM:228300 OMIM:618841 ORPHA:293978 ORPHA:163976 ORPHA:95699 ORPHA:157954 OMIM:614897 OMIM:201100 ORPHA:1772

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen