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 the genital system (HP:0000078)

Grandparent Node:
Neoplasm of the genitourinary tract (HP:0007379)

Parent Node:
Genital neoplasm (HP:0010787)

..Starting node
..Vulvar neoplasm (HP:0030416)

Term ID:

30416

Name:

Vulvar neoplasm

Synonym:

Neoplasm of the vulva; Tumor of the vulva; Tumour of the vulva

Definition:

A tumor (abnormal growth of tissue) of the female external genital tract (vulva).

Comments:

Reference:

HP:0030416

Genes and Diseases:

Child Nodes:

........

Squamous cell carcinoma of the vulva (HP:0030417)

........

Vulvar melanoma (HP:0030418)

........

Bartholin gland carcinoma (HP:0030419)

........

Vulvar adenocarcinoma (HP:0030420)

Sister Nodes:

Fallopian tube carcinoma (HP:0030394)

Gonadal neoplasm (HP:0010785)

Neoplasm of the male external genitalia (HP:0100848)

Uterine neoplasm (HP:0010784)

Vaginal neoplasm (HP:0100650)

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:0030416	HP:0030416	Vulvar neoplasm	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional	678
HP:0030416	HP:0030416	Vulvar neoplasm	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional	18
HP:0030416	HP:0030416	Vulvar neoplasm	0	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0030416	HP:0032202	Vulvar intraepithelial neoplasia	1	CL E G H
HP:0030416	HP:0030420	Vulvar adenocarcinoma	1	CL E G H
HP:0030416	HP:0030419	Bartholin gland carcinoma	1	CL E G H
HP:0030416	HP:0030418	Vulvar melanoma	1	CL E G H
HP:0030416	HP:0030417	Squamous cell carcinoma of the vulva	1	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040283 - Occasional	217

Genes (3) :COL4A5 COL4A6 DOCK8

Diseases (2) :ORPHA:1018 ORPHA:217390

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