Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the kidney (HP:0000077)help
Parent Node:
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Abnormal renal morphology (HP:0012210)help
..Starting node
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Abnormal renal medulla morphology (HP:0100957)help
Term ID: 100957
Name: Abnormal renal medulla morphology
Synonym: Abnormality of the renal medulla
Definition: Any structural abnormality of the medulla of the kidney.
Comments:
Reference: HP:0100957
Genes and Diseases:
 
       Child Nodes:
........expandNephronophthisis (HP:0000090) help
........expandRenal corticomedullary cysts (HP:0000108) help
........expandAbnormal renal corticomedullary differentiation (HP:0005932) help
................... HP:0005564 Absence of renal corticomedullary differentiation
................... HP:0005565 Reduced renal corticomedullary differentiation
........expandMultiple small medullary renal cysts (HP:0008659) help
........expandAbnormality of medullary pyramid morphology (HP:0025361) help
................... HP:0025362 Renal medullary pyramid hypoplasia

 Sister Nodes: 
..expandAbnormal localization of kidney (HP:0100542) help
..expandAbnormal nephron morphology (HP:0012575) help
..expandAbnormal renal artery morphology (HP:0008776) help
..expandAbnormal renal calyx morphology (HP:0011130) help
..expandAbnormal renal collecting system morphology (HP:0004742) help
..expandAbnormal renal cortex morphology (HP:0011035) help
..expandAbnormal renal pelvis morphology (HP:0010944) help
..expandDecreased renal parenchymal thickness (HP:0025327) help
..expandEnlarged kidney (HP:0000105) help
..expandHyperechogenic kidneys (HP:0004719) help
..expandNephrocalcinosis (HP:0000121) help
..expandNephrogenic rest (HP:0100880) help
..expandNephrolithiasis (HP:0000787) help
..expandNephrosclerosis (HP:0009741) help
..expandPerinephric fluid collection (HP:0031226) help
..expandPerirenal hematoma (HP:0030171) help
..expandRenal amyloidosis (HP:0001917) help
..expandRenal atrophy (HP:0012585) help
..expandRenal cyst (HP:0000107) help
..expandRenal duplication (HP:0000075) help
..expandRenal dysplasia (HP:0000110) help
..expandRenal fibrosis (HP:0030760) help
..expandRenal hypoplasia/aplasia (HP:0008678) help
..expandRenal malrotation (HP:0004712) help
..expandRenal steatosis (HP:0000799) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100957HP:0100957Abnormal renal medulla morphology0 CL E G H
HP:0100957HP:0100957Abnormal renal medulla morphology1 CL E G H
HP:0100957HP:0100957Abnormal renal medulla morphology2 CL E G H


Genes (47) :AHI1 ANKS6 AP2S1 BSND CC2D2A CEP120 CEP164 CEP290 CEP41 CEP83 COQ7 CRB2 DCDC2 DYNC2H1 DYNC2LI1 FAN1 GLIS2 IFT140 IFT172 IFT43 IFT80 INVS IQCB1 JAG1 MAPKBP1 MUC1 NEK8 NIPBL NPHP1 NPHP3 NPHP4 OSTM1 PKHD1 RPGRIP1L SDCCAG8 TMEM138 TMEM216 TMEM67 TRAF3IP1 TRIP11 TTC21B UMOD WDR19 WDR34 WDR60 XPNPEP3 ZNF423

Diseases (49) :608629 615382 600740 216360 474 3156 614845 610188 614464 615862 616733 219730 616217 614817 611498 266920 615630 614099 602088 609254 118450 617271 174000 613824 609583 256100 266900 604387 606966 606996 611560 613615 614465 608091 610688 613550 602152 616629 184260 613820 603860 614377 616307 613159 614844 602522 122470 259720 263200
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.