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 male external genitalia (HP:0000032)

Grandparent Node:
Genital neoplasm (HP:0010787)

Parent Node:
Abnormality of the scrotum (HP:0000045)

Parent Node:
Neoplasm of the male external genitalia (HP:0100848)

..Starting node
..Neoplasm of the scrotum (HP:0100849)

Term ID:

100849

Name:

Neoplasm of the scrotum

Synonym:

Neoplasia of the scrotum; Scrotum tumor; Scrotum tumour

Definition:

A tumor (abnormal growth of tissue) of the scrotum.

Comments:

Reference:

HP:0100849

Genes and Diseases:

Child Nodes:

Sister Nodes:

Neoplasm of the penis (HP:0100850)

Testicular neoplasm (HP:0010788)

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:0100849	HP:0100849	Neoplasm of the scrotum	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040284 - Very rare	8

Genes (1) :FLI1

Diseases (1) :ORPHA:370348

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