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:
Gonadal neoplasm (HP:0010785)

Parent Node:
Abnormal epididymis morphology (HP:0009714)

Parent Node:
Epididymal neoplasm (HP:0030421)

..Starting node
..Papillary cystadenoma of the epididymis (HP:0009715)

Term ID:

9715

Name:

Papillary cystadenoma of the epididymis

Synonym:

Definition:

A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.

Comments:

Reference:

HP:0009715

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0009715	HP:0009715	Papillary cystadenoma of the epididymis	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	1
HP:0009715	HP:0009715	Papillary cystadenoma of the epididymis	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.	1
HP:0009715	HP:0009715	Papillary cystadenoma of the epididymis	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0009715	HP:0009715	Papillary cystadenoma of the epididymis	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0009715	HP:0009715	Papillary cystadenoma of the epididymis	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional	90
HP:0009715	HP:0009715	Papillary cystadenoma of the epididymis	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	490
HP:0009715	HP:0009715	Papillary cystadenoma of the epididymis	0	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.	490

Genes (5) :CCND1 CREBBP EP300 HNF1B VHL

Diseases (4) :ORPHA:892 OMIM:193300 OMIM:180849 ORPHA:93111

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