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 male external genitalia (HP:0000032)

Parent Node:
Abnormal testis morphology (HP:0000035)

..Starting node
..Testicular atrophy (HP:0000029)

Term ID:

Name:

Testicular atrophy

Synonym:

Testicular degeneration

Definition:

Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.

Comments:

Reference:

HP:0000029

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the Leydig cells (HP:0010789)

Abnormality of the testis size (HP:0045058)

Anorchism (HP:0030869)

Cryptorchidism (HP:0000028)

Dysplastic testes (HP:0008733)

Hydrocele testis (HP:0000034)

Intratesticular abscess (HP:0025038)

Monorchism (HP:0030868)

Orchitis (HP:0100796)

Primary testicular failure (HP:0008720)

Retractile testis (HP:0012646)

Supernumerary testes (HP:0010470)

Testicular dysgenesis (HP:0008715)

Testicular fibrosis (HP:0012860)

Testicular lipomatosis (HP:0025476)

Testicular microlithiasis (HP:0012215)

Testicular neoplasm (HP:0010788)

Testicular torsion (HP:0100813)

Vanishing testis (HP:0012870)

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:0000029	HP:0000029	Testicular atrophy	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia	.	65
HP:0000029	HP:0000029	Testicular atrophy	0	AR CL E G H	367	644	ORPHA:481	Kennedy disease	HP:0040283 - Occasional	125
HP:0000029	HP:0000029	Testicular atrophy	0	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1	.	125
HP:0000029	HP:0000029	Testicular atrophy	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.	13
HP:0000029	HP:0000029	Testicular atrophy	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0000029	HP:0000029	Testicular atrophy	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.	152
HP:0000029	HP:0000029	Testicular atrophy	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0000029	HP:0000029	Testicular atrophy	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040282 - Frequent	23
HP:0000029	HP:0000029	Testicular atrophy	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.	38
HP:0000029	HP:0000029	Testicular atrophy	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional	38
HP:0000029	HP:0000029	Testicular atrophy	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.	76
HP:0000029	HP:0000029	Testicular atrophy	0	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2	.	27
HP:0000029	HP:0000029	Testicular atrophy	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0000029	HP:0000029	Testicular atrophy	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional	19
HP:0000029	HP:0000029	Testicular atrophy	0	TEX11 CL E G H	56159	11733	OMIM:309120	SPERMATOGENIC FAILURE, X-LINKED, 2	.	5
HP:0000029	HP:0000029	Testicular atrophy	0	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5	.	911
HP:0000029	HP:0000029	Testicular atrophy	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.	389

Genes (15) :ANOS1 AR BMP2 BMP6 DMPK FGD1 FSHB HFE HPRT1 NHP2 POLG SMS TEX11 TP53 WFS1

Diseases (15) :OMIM:308700 ORPHA:481 OMIM:313200 OMIM:235200 ORPHA:465508 OMIM:160900 OMIM:305400 ORPHA:52901 OMIM:300322 OMIM:613987 OMIM:157640 ORPHA:3063 OMIM:309120 OMIM:618165 OMIM:222300

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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