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:
Renal neoplasm (HP:0009726)

Parent Node:
Renal cell carcinoma (HP:0005584)

..Starting node
..Clear cell renal cell carcinoma (HP:0006770)

Term ID:

6770

Name:

Clear cell renal cell carcinoma

Synonym:

Nonpapillary renal cell carcinoma

Definition:

A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron.

Comments:

Reference:

HP:0006770

Genes and Diseases:

Child Nodes:

Sister Nodes:

Papillary renal cell carcinoma (HP:0006766)

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:0006770	HP:0006770	Clear cell renal cell carcinoma	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional	187

Genes (1) :NOD2

Diseases (1) :ORPHA:90340

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