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:
Abnormal penis morphology (HP:0000036)

Parent Node:
Abnormal male reproductive system physiology (HP:0012874)

Parent Node:
Erectile dysfunction (HP:0100639)

..Starting node
..Impotence (HP:0000802)

Term ID:

802

Name:

Impotence

Synonym:

Difficulty getting a full erection; Difficulty getting an erection

Definition:

Inability to develop or maintain an erection of the penis.

Comments:

Reference:

HP:0000802

Genes and Diseases:

Child Nodes:

Sister Nodes:

Priapism (HP:0200023)

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:0000802	HP:0000802	Impotence	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0000802	HP:0000802	Impotence	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040283 - Occasional	95
HP:0000802	HP:0000802	Impotence	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040281 - Very frequent	95
HP:0000802	HP:0000802	Impotence	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0000802	HP:0000802	Impotence	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040282 - Frequent	1
HP:0000802	HP:0000802	Impotence	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040282 - Frequent	1
HP:0000802	HP:0000802	Impotence	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0000802	HP:0000802	Impotence	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.	13
HP:0000802	HP:0000802	Impotence	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040283 - Occasional	32
HP:0000802	HP:0000802	Impotence	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040281 - Very frequent	636
HP:0000802	HP:0000802	Impotence	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent	636
HP:0000802	HP:0000802	Impotence	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	2
HP:0000802	HP:0000802	Impotence	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	102
HP:0000802	HP:0000802	Impotence	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	1
HP:0000802	HP:0000802	Impotence	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent
HP:0000802	HP:0000802	Impotence	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	515
HP:0000802	HP:0000802	Impotence	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0000802	HP:0000802	Impotence	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	4
HP:0000802	HP:0000802	Impotence	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0000802	HP:0000802	Impotence	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	17
HP:0000802	HP:0000802	Impotence	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	172
HP:0000802	HP:0000802	Impotence	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0000802	HP:0000802	Impotence	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040282 - Frequent	30
HP:0000802	HP:0000802	Impotence	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	15
HP:0000802	HP:0000802	Impotence	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	92
HP:0000802	HP:0000802	Impotence	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040283 - Occasional	5
HP:0000802	HP:0000802	Impotence	0	GUCY1A1 CL E G H	2982	4685	OMIM:615750	Moyamoya disease 6 with achalasia	.
HP:0000802	HP:0000802	Impotence	0	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2	HP:0040282 - Frequent	15
HP:0000802	HP:0000802	Impotence	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0000802	HP:0000802	Impotence	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.	38
HP:0000802	HP:0000802	Impotence	0	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2	HP:0040282 - Frequent
HP:0000802	HP:0000802	Impotence	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	8
HP:0000802	HP:0000802	Impotence	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0000802	HP:0000802	Impotence	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	14
HP:0000802	HP:0000802	Impotence	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0000802	HP:0000802	Impotence	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0000802	HP:0000802	Impotence	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	462
HP:0000802	HP:0000802	Impotence	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040281 - Very frequent	462
HP:0000802	HP:0000802	Impotence	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0000802	HP:0000802	Impotence	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0000802	HP:0000802	Impotence	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0000802	HP:0000802	Impotence	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional	46
HP:0000802	HP:0000802	Impotence	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0000802	HP:0000802	Impotence	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	9
HP:0000802	HP:0000802	Impotence	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0000802	HP:0000802	Impotence	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040284 - Very rare	309
HP:0000802	HP:0000802	Impotence	0	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4	.	56
HP:0000802	HP:0000802	Impotence	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0000802	HP:0000802	Impotence	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0000802	HP:0000802	Impotence	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0000802	HP:0000802	Impotence	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	5
HP:0000802	HP:0000802	Impotence	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0000802	HP:0000802	Impotence	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0000802	HP:0000802	Impotence	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0000802	HP:0000802	Impotence	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0000802	HP:0000802	Impotence	0	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3	.	67
HP:0000802	HP:0000802	Impotence	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent
HP:0000802	HP:0000802	Impotence	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.	107
HP:0000802	HP:0000802	Impotence	0	TTR CL E G H	7276	12405	ORPHA:85447	ATTRV30M amyloidosis	HP:0040282 - Frequent	107
HP:0000802	HP:0000802	Impotence	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	10

Genes (54) :ABCD1 AIP AKT1 ATXN8 ATXN8OS BAP1 BMP2 CACNA1G CDH23 CDKN1A CDKN1B CDKN2B CDKN2C CHD7 COQ2 DUSP6 FGF17 FGF8 FGFR1 FMR1 GNRH1 GNRHR GPR101 GUCY1A1 HAMP HEXB HFE HJV HS6ST1 KISS1 KISS1R LMNB1 MEN1 NF2 NSMF PDGFB PIGA PIK3CA PROK2 PROKR2 SACS SLC40A1 SMARCB1 SMARCE1 SMO SPRY4 SUFU TAC3 TACR3 TERT TFR2 TRAF7 TTR WDR11

Diseases (24) :OMIM:300100 ORPHA:963 ORPHA:2965 ORPHA:2495 ORPHA:98760 OMIM:235200 ORPHA:458803 ORPHA:91347 ORPHA:652 ORPHA:432 OMIM:146500 OMIM:300623 ORPHA:93256 OMIM:615750 ORPHA:79230 OMIM:268800 ORPHA:99027 OMIM:169500 ORPHA:447 ORPHA:98 OMIM:606069 OMIM:604250 OMIM:105210 ORPHA:85447

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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