Human Phenotype Ontology 
Grandparent Node:
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Abnormal renal physiology (HP:0012211)help
Grandparent Node:
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Increased inflammatory response (HP:0012649)help
Parent Node:
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Nephritis (HP:0000123)help
..Starting node
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Pyelonephritis (HP:0012330)help
Term ID: 12330
Name: Pyelonephritis
Synonym:
Definition: An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.
Comments:
Reference: HP:0012330
Genes and Diseases:
 
       Child Nodes:
........expandRecurrent pyelonephritis (HP:0012787) help

 Sister Nodes: 
..expandGlomerulonephritis (HP:0000099) help
..expandPerinephritis (HP:0012784) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012330HP:0012330Pyelonephritis0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0012330HP:0012330Pyelonephritis0ALG5 CL E G H2988020266ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040283 - Occasional
HP:0012330HP:0012330Pyelonephritis0ALG9 CL E G H7979615672ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040283 - Occasional93
HP:0012330HP:0012330Pyelonephritis0BICC1 CL E G H8011419351ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040283 - Occasional5
HP:0012330HP:0012330Pyelonephritis0BNC2 CL E G H5479630988ORPHA:93110Posterior urethral valveHP:0040283 - Occasional22
HP:0012330HP:0012330Pyelonephritis0CFI CL E G H34265394OMIM:610984Complement factor I deficiency.57
HP:0012330HP:0012330Pyelonephritis0DNAJB11 CL E G H5172614889ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040283 - Occasional
HP:0012330HP:0012330Pyelonephritis0EFEMP2 CL E G H300083219ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040283 - Occasional45
HP:0012330HP:0012330Pyelonephritis0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0012330HP:0012330Pyelonephritis0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0012330HP:0012330Pyelonephritis0FBLN5 CL E G H105163602ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040283 - Occasional63
HP:0012330HP:0012330Pyelonephritis0GANAB CL E G H231934138ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040283 - Occasional6
HP:0012330HP:0012330Pyelonephritis0HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome.11
HP:0012330HP:0012330Pyelonephritis0IFT140 CL E G H974229077ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040283 - Occasional148
HP:0012330HP:0012330Pyelonephritis0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndromeHP:0040283 - Occasional11
HP:0012330HP:0012330Pyelonephritis0KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndromeHP:0040283 - Occasional11
HP:0012330HP:0012330Pyelonephritis0LTBP1 CL E G H40526714ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040283 - Occasional
HP:0012330HP:0012330Pyelonephritis0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0012330HP:0012330Pyelonephritis0MYH11 CL E G H46297569OMIM:619351MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2418
HP:0012330HP:0012330Pyelonephritis0PKD1 CL E G H53109008ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040283 - Occasional342
HP:0012330HP:0012330Pyelonephritis0PKD2 CL E G H53119009ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040283 - Occasional106
HP:0012330HP:0012330Pyelonephritis0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0012330HP:0012330Pyelonephritis0XDH CL E G H749812805OMIM:278300Xanthinuria, type I.79
HP:0012330HP:0033761Xanthogranulomatous pyelonephritis1 CL E G H
HP:0012330HP:0012787Recurrent pyelonephritis1SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040283 - Occasional53


Genes (21) :ALDH18A1 ALG5 ALG9 BICC1 BNC2 CFI DNAJB11 EFEMP2 ELN FBLN5 GANAB HOXA13 IFT140 KCTD1 LTBP1 MED12 MYH11 PKD1 PKD2 SHANK3 XDH

Diseases (12) :ORPHA:90348 ORPHA:730 ORPHA:93110 OMIM:610984 ORPHA:90349 OMIM:140000 OMIM:181270 ORPHA:2036 OMIM:301068 OMIM:619351 ORPHA:48652 OMIM:278300
 

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