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 urinary system (HP:0000079)

Parent Node:
Abnormality of the upper urinary tract (HP:0010935)

..Starting node
..Abnormality of the kidney (HP:0000077)

Term ID:	77
Name:	Abnormality of the kidney
Synonym:	Abnormal kidney; Abnormality of the kidney; Renal anomalies; Renal anomaly
Definition:	An abnormality of the kidney.
Comments:
Reference:	HP:0000077
Genes and Diseases:	There are 540 terms for your input, too many to show detail here. Please try its child terms.
Child Nodes:
........Renal neoplasm (HP:0009726) ................... HP:0005584 Renal cell carcinoma ................... HP:0006735 Renal cortical adenoma ................... HP:0006762 Renal pelvic carcinoma ................... HP:0008663 Renal sarcoma ................... HP:0008696 Renal hamartoma ................... HP:0011794 Embryonal renal neoplasm ................... HP:0011798 Renal oncocytoma ................... HP:0030409 Renal transitional cell carcinoma
........Abnormal renal morphology (HP:0012210) ................... HP:0000075 Renal duplication ................... HP:0000105 Enlarged kidney ................... HP:0000107 Renal cyst ................... HP:0000110 Renal dysplasia ................... HP:0000121 Nephrocalcinosis ................... HP:0000787 Nephrolithiasis ................... HP:0000799 Renal steatosis ................... HP:0001917 Renal amyloidosis ................... HP:0004712 Renal malrotation ................... HP:0004719 Hyperechogenic kidneys ................... HP:0004742 Abnormality of the renal collecting system ................... HP:0008678 Renal hypoplasia/aplasia ................... HP:0008776 Abnormal renal artery morphology ................... HP:0009741 Nephrosclerosis ................... HP:0010944 Abnormality of the renal pelvis ................... HP:0011035 Abnormality of renal cortex morphology ................... HP:0011130 Abnormality of renal calyx morphology ................... HP:0012575 Abnormality of the nephron ................... HP:0012585 Renal atrophy ................... HP:0025327 Decreased renal parenchymal thickness ................... HP:0030171 Perirenal hematoma ................... HP:0030760 Renal fibrosis ................... HP:0031226 Perinephric fluid collection ................... HP:0100542 Abnormal localization of kidney ................... HP:0100880 Nephrogenic rest ................... HP:0100957 Abnormality of the renal medulla
........Abnormal renal physiology (HP:0012211) ................... HP:0000083 Renal insufficiency ................... HP:0000100 Nephrotic syndrome ................... HP:0000112 Nephropathy ................... HP:0000123 Nephritis ................... HP:0000124 Renal tubular dysfunction ................... HP:0000790 Hematuria ................... HP:0005575 Hemolytic-uremic syndrome ................... HP:0010680 Elevated alkaline phosphatase of renal origin ................... HP:0010685 Low alkaline phosphatase of renal origin ................... HP:0011036 Abnormality of renal excretion ................... HP:0011038 Abnormality of renal resorption ................... HP:0012212 Abnormal glomerular filtration rate ................... HP:0030036 Isothenuria ................... HP:0031033 Impaired urinary acidification ................... HP:0100817 Renovascular hypertension
Sister Nodes:
..Abnormality of the ureter (HP:0000069)
Genes (0) : Diseases (0) :
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