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

CHLA_Logo

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

Human Phenotype Ontology

Grandparent Node:
Abnormality of the kidney (HP:0000077)

help

Parent Node:
Abnormal renal morphology (HP:0012210)

help

..Starting node
..Renal atrophy (HP:0012585)

help

Term ID:

12585

Name:

Renal atrophy

Synonym:

Kidney degeneration

Definition:

Atrophy of the kidney.

Comments:

Reference:

Genes and Diseases:

Child Nodes:

........

Renal cortical atrophy (HP:0002048)

help

........

Unilateral renal atrophy (HP:0008717)

help

........

Bilateral renal atrophy (HP:0012586)

help

Sister Nodes:

..

Abnormal localization of kidney (HP:0100542)

help

..

Abnormal nephron morphology (HP:0012575)

help

..

Abnormal renal artery morphology (HP:0008776)

help

..

Abnormal renal calyx morphology (HP:0011130)

help

..

Abnormal renal collecting system morphology (HP:0004742)

help

..

Abnormal renal cortex morphology (HP:0011035)

help

..

Abnormal renal medulla morphology (HP:0100957)

help

..

Abnormal renal pelvis morphology (HP:0010944)

help

..

Decreased renal parenchymal thickness (HP:0025327)

help

..

Enlarged kidney (HP:0000105)

help

..

Hyperechogenic kidneys (HP:0004719)

help

..

Nephrocalcinosis (HP:0000121)

help

..

Nephrogenic rest (HP:0100880)

help

..

Nephrolithiasis (HP:0000787)

help

..

Nephrosclerosis (HP:0009741)

help

..

Perinephric fluid collection (HP:0031226)

help

..

Perirenal hematoma (HP:0030171)

help

..

Renal amyloidosis (HP:0001917)

help

..

Renal cyst (HP:0000107)

help

..

Renal duplication (HP:0000075)

help

..

Renal dysplasia (HP:0000110)

help

..

Renal fibrosis (HP:0030760)

help

..

Renal hypoplasia/aplasia (HP:0008678)

help

..

Renal malrotation (HP:0004712)

help

..

Renal steatosis (HP:0000799)

help

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	HGMD variants	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012585	HP:0012585	Renal atrophy	0	ALG5 CL E G H	29880	20266	OMIM:620056
HP:0012585	HP:0012585	Renal atrophy	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome				8
HP:0012585	HP:0012585	Renal atrophy	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome				63
HP:0012585	HP:0012585	Renal atrophy	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2				1
HP:0012585	HP:0012585	Renal atrophy	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0012585	HP:0012585	Renal atrophy	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome				166
HP:0012585	HP:0012585	Renal atrophy	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0012585	HP:0008717	Unilateral renal atrophy	1	CL E G H
HP:0012585	HP:0012586	Bilateral renal atrophy	1	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome				63
HP:0012585	HP:0002048	Renal cortical atrophy	1	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.			1

Genes (7) :ALG5 DCDC2 MAFB MUC1 PAX7 TMEM67 ZMIZ1

Diseases (6) :OMIM:620056 ORPHA:84081 OMIM:166300 OMIM:174000 OMIM:618578 OMIM:618659

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

MSeqDR is developed by MSeqDR Consortium and hosted by the CHLA
Copyright 2013-2024 The MSeqDR Consortium
All rights reserved

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