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 preputium morphology (HP:0100587)

..Starting node
..Phimosis (HP:0001741)

Term ID:

1741

Name:

Phimosis

Synonym:

Definition:

The male foreskin cannot be fully retracted from the head of the penis.

Comments:

Reference:

HP:0001741

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital absence of foreskin (HP:0012421)

Paraphimosis (HP:0100588)

Ventral shortening of foreskin (HP:0012435)

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:0001741	HP:0001741	Phimosis	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0001741	HP:0001741	Phimosis	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0001741	HP:0001741	Phimosis	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0001741	HP:0001741	Phimosis	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0001741	HP:0001741	Phimosis	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040283 - Occasional	36
HP:0001741	HP:0001741	Phimosis	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040282 - Frequent	136
HP:0001741	HP:0001741	Phimosis	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0001741	HP:0001741	Phimosis	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0001741	HP:0001741	Phimosis	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.	28
HP:0001741	HP:0001741	Phimosis	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0001741	HP:0001741	Phimosis	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9

Genes (10) :APC2 CENPT CTCF DKC1 ERMARD FERMT1 NSD1 PQBP1 SETD2 SIN3A

Diseases (9) :ORPHA:821 OMIM:618702 ORPHA:363611 OMIM:305000 ORPHA:75857 ORPHA:2908 OMIM:173650 OMIM:309500 OMIM:613406

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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