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 male internal genitalia morphology (HP:0000022)

Parent Node:
Abnormal epididymis morphology (HP:0009714)

..Starting node
..Epididymal cyst (HP:0030424)

Term ID:

30424

Name:

Epididymal cyst

Synonym:

Epididymal cysts

Definition:

A smooth, extratesticular, spherical cyst in the head of the epididymis.

Comments:

Reference:

HP:0030424

Genes and Diseases:

Child Nodes:

Sister Nodes:

Epididymitis (HP:0000031)

Papillary cystadenoma of the epididymis (HP:0009715)

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:0030424	HP:0030424	Epididymal cyst	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040284 - Very rare	1
HP:0030424	HP:0030424	Epididymal cyst	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.	1
HP:0030424	HP:0030424	Epididymal cyst	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome	.	90
HP:0030424	HP:0030424	Epididymal cyst	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0030424	HP:0030424	Epididymal cyst	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0030424	HP:0030424	Epididymal cyst	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040284 - Very rare	490
HP:0030424	HP:0030424	Epididymal cyst	0	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.	490

Genes (4) :CCND1 HNF1B SRCAP VHL

Diseases (5) :ORPHA:892 OMIM:193300 OMIM:137920 ORPHA:2044 OMIM:136140

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