Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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
..Papillary renal cell carcinoma (HP:0006766)

Term ID:

6766

Name:

Papillary renal cell carcinoma

Synonym:

Definition:

The presence of renal cell carcinoma in the renal papilla.

Comments:

Reference:

HP:0006766

Genes and Diseases:

Child Nodes:

........

Papillary renal cell carcinoma type 2 (HP:0006732)

........

Papillary renal cell carcinoma type 1 (HP:0011797)

Sister Nodes:

Clear cell renal cell carcinoma (HP:0006770)

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:0006766	HP:0006766	Papillary renal cell carcinoma	0	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2	.	169
HP:0006766	HP:0006766	Papillary renal cell carcinoma	0	FH CL E G H	2271	3700	ORPHA:523	Hereditary leiomyomatosis and renal cell cancer		301
HP:0006766	HP:0006766	Papillary renal cell carcinoma	0	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional	9
HP:0006766	HP:0006766	Papillary renal cell carcinoma	0	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional	58
HP:0006766	HP:0006766	Papillary renal cell carcinoma	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0006766	HP:0006766	Papillary renal cell carcinoma	0	MET CL E G H	4233	7029	OMIM:605074	RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1		375
HP:0006766	HP:0006766	Papillary renal cell carcinoma	0	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional	3
HP:0006766	HP:0006766	Papillary renal cell carcinoma	0	PRCC CL E G H	5546	9343	OMIM:605074	RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1
HP:0006766	HP:0011797	Papillary renal cell carcinoma type 1	1	CL E G H
HP:0006766	HP:0006732	Papillary renal cell carcinoma type 2	1	FH CL E G H	2271	3700	ORPHA:523	Hereditary leiomyomatosis and renal cell cancer	HP:0040283 - Occasional	301

Genes (8) :CDC73 FH FOXE1 HABP2 LMNA MET MINPP1 PRCC

Diseases (5) :OMIM:145001 ORPHA:523 ORPHA:319487 ORPHA:363618 OMIM:605074

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen