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:
Abnormality of the kidney (HP:0000077)

Parent Node:
Abnormal renal morphology (HP:0012210)

..Starting node
..Nephrogenic rest (HP:0100880)

Term ID:

100880

Name:

Nephrogenic rest

Synonym:

Definition:

Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney.

Comments:

Reference:

HP:0100880

Genes and Diseases:

Child Nodes:

........

Perilobar nephrogenic rest (HP:0012782)

........

Intralobar nephrogenic rest (HP:0012783)

Sister Nodes:

Abnormal localization of kidney (HP:0100542)

Abnormal nephron morphology (HP:0012575)

Abnormal renal artery morphology (HP:0008776)

Abnormal renal calyx morphology (HP:0011130)

Abnormal renal collecting system morphology (HP:0004742)

Abnormal renal cortex morphology (HP:0011035)

Abnormal renal medulla morphology (HP:0100957)

Abnormal renal pelvis morphology (HP:0010944)

Decreased renal parenchymal thickness (HP:0025327)

Enlarged kidney (HP:0000105)

Hyperechogenic kidneys (HP:0004719)

Nephrocalcinosis (HP:0000121)

Nephrolithiasis (HP:0000787)

Nephrosclerosis (HP:0009741)

Perinephric fluid collection (HP:0031226)

Perirenal hematoma (HP:0030171)

Renal amyloidosis (HP:0001917)

Renal atrophy (HP:0012585)

Renal cyst (HP:0000107)

Renal duplication (HP:0000075)

Renal dysplasia (HP:0000110)

Renal fibrosis (HP:0030760)

Renal hypoplasia/aplasia (HP:0008678)

Renal malrotation (HP:0004712)

Renal steatosis (HP:0000799)

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:0100880	HP:0100880	Nephrogenic rest	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0100880	HP:0100880	Nephrogenic rest	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.	164
HP:0100880	HP:0012783	Intralobar nephrogenic rest	1	CL E G H
HP:0100880	HP:0012782	Perilobar nephrogenic rest	1	CL E G H

Genes (2) :BMPER DIS3L2

Diseases (2) :OMIM:608022 OMIM:267000

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