Human Phenotype Ontology

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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:
Abnormality of reproductive system physiology (HP:0000080)

Grandparent Node:
Puberty and gonadal disorders (HP:0008373)

Parent Node:
Functional abnormality of male internal genitalia (HP:0000025)

Parent Node:
Hypogonadism (HP:0000135)

..Starting node
..Male hypogonadism (HP:0000026)

Term ID:

Name:

Male hypogonadism

Synonym:

Decreased function of male gonad

Definition:

Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.

Comments:

Reference:

HP:0000026

Genes and Diseases:

Child Nodes:

Sister Nodes:

Female hypogonadism (HP:0000134)

Hypergonadotropic hypogonadism (HP:0000815)

Hypogonadotropic hypogonadism (HP:0000044)

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:0000026	HP:0000026	Male hypogonadism	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional	135
HP:0000026	HP:0000026	Male hypogonadism	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040281 - Very frequent	95
HP:0000026	HP:0000026	Male hypogonadism	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0000026	HP:0000026	Male hypogonadism	0	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0000026	HP:0000026	Male hypogonadism	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040281 - Very frequent	636
HP:0000026	HP:0000026	Male hypogonadism	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent	636
HP:0000026	HP:0000026	Male hypogonadism	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	515
HP:0000026	HP:0000026	Male hypogonadism	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional	3
HP:0000026	HP:0000026	Male hypogonadism	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0000026	HP:0000026	Male hypogonadism	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040282 - Frequent	53
HP:0000026	HP:0000026	Male hypogonadism	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:0000026	HP:0000026	Male hypogonadism	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	4
HP:0000026	HP:0000026	Male hypogonadism	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0000026	HP:0000026	Male hypogonadism	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040284 - Very rare	20
HP:0000026	HP:0000026	Male hypogonadism	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040284 - Very rare	158
HP:0000026	HP:0000026	Male hypogonadism	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040284 - Very rare	199
HP:0000026	HP:0000026	Male hypogonadism	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040284 - Very rare	199
HP:0000026	HP:0000026	Male hypogonadism	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040284 - Very rare	55
HP:0000026	HP:0000026	Male hypogonadism	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040284 - Very rare	55
HP:0000026	HP:0000026	Male hypogonadism	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0000026	HP:0000026	Male hypogonadism	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	17
HP:0000026	HP:0000026	Male hypogonadism	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	172
HP:0000026	HP:0000026	Male hypogonadism	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040280 - Obligate	23
HP:0000026	HP:0000026	Male hypogonadism	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	15
HP:0000026	HP:0000026	Male hypogonadism	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	92
HP:0000026	HP:0000026	Male hypogonadism	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	8
HP:0000026	HP:0000026	Male hypogonadism	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0000026	HP:0000026	Male hypogonadism	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0000026	HP:0000026	Male hypogonadism	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	14
HP:0000026	HP:0000026	Male hypogonadism	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0000026	HP:0000026	Male hypogonadism	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0000026	HP:0000026	Male hypogonadism	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040281 - Very frequent	462
HP:0000026	HP:0000026	Male hypogonadism	0	NR0B1 CL E G H	190	7960	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	48
HP:0000026	HP:0000026	Male hypogonadism	0	NR5A1 CL E G H	2516	7983	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	38
HP:0000026	HP:0000026	Male hypogonadism	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0000026	HP:0000026	Male hypogonadism	0	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040281 - Very frequent	2
HP:0000026	HP:0000026	Male hypogonadism	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	9
HP:0000026	HP:0000026	Male hypogonadism	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0000026	HP:0000026	Male hypogonadism	0	SOX3 CL E G H	6658	11199	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	24
HP:0000026	HP:0000026	Male hypogonadism	0	SOX9 CL E G H	6662	11204	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	109
HP:0000026	HP:0000026	Male hypogonadism	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	5
HP:0000026	HP:0000026	Male hypogonadism	0	SRY CL E G H	6736	11311	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	23
HP:0000026	HP:0000026	Male hypogonadism	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0000026	HP:0000026	Male hypogonadism	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0000026	HP:0000026	Male hypogonadism	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	10
HP:0000026	HP:0000026	Male hypogonadism	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional	389
HP:0000026	HP:0000026	Male hypogonadism	0	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome	HP:0040282 - Frequent	389

Genes (43) :ABCD1 AIP AIRE ANAPC1 CDH23 CHD7 CISD2 CTNS CYP17A1 DHH DUSP6 EIF2S3 ERCC1 ERCC4 ERCC6 ERCC8 FGF17 FGF8 FGFR1 FSHB GNRH1 GNRHR HS6ST1 IFT172 KISS1 KISS1R LHB MECP2 MEN1 NR0B1 NR5A1 NSMF POLA1 PROK2 PROKR2 SOX3 SOX9 SPRY4 SRY TAC3 TACR3 WDR11 WFS1

Diseases (20) :ORPHA:139396 ORPHA:2965 OMIM:240300 OMIM:618625 ORPHA:91347 ORPHA:432 ORPHA:3463 OMIM:219800 ORPHA:90793 ORPHA:168563 OMIM:300148 ORPHA:90322 ORPHA:90321 ORPHA:52901 OMIM:619471 OMIM:228300 OMIM:300055 ORPHA:393 ORPHA:163976 ORPHA:411590

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

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