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:
Neoplasm of the genitourinary tract (HP:0007379)

Parent Node:
Abnormality of the urethra (HP:0000795)

Parent Node:
Urinary tract neoplasm (HP:0010786)

..Starting node
..Neoplasm of the urethra (HP:0100517)

Term ID:

100517

Name:

Neoplasm of the urethra

Synonym:

Neoplasia of the urethra

Definition:

The presence of a neoplasm of the urethra.

Comments:

Reference:

HP:0100517

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bladder neoplasm (HP:0009725)

Neoplasm of the ureter (HP:0100516)

Renal neoplasm (HP:0009726)

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:0100517	HP:0100517	Neoplasm of the urethra	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040283 - Occasional	136

Genes (1) :FERMT1

Diseases (1) :ORPHA:2908

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