Human Phenotype Ontology 
Grandparent Node:
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Abnormal renal morphology (HP:0012210)help
Parent Node:
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Abnormal renal medulla morphology (HP:0100957)help
..Starting node
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Abnormality of medullary pyramid morphology (HP:0025361)help
Term ID: 25361
Name: Abnormality of medullary pyramid morphology
Synonym:
Definition: A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.
Comments:
Reference: HP:0025361
Genes and Diseases:
 
       Child Nodes:
........expandRenal medullary pyramid hypoplasia (HP:0025362) help

 Sister Nodes: 
..expandAbnormal renal corticomedullary differentiation (HP:0005932) help
..expandMultiple small medullary renal cysts (HP:0008659) help
..expandNephronophthisis (HP:0000090) help
..expandRenal corticomedullary cysts (HP:0000108) 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:0025361HP:0025361Abnormality of medullary pyramid morphology0LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040282 - Frequent8
HP:0025361HP:0025361Abnormality of medullary pyramid morphology0PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040282 - Frequent88
HP:0025361HP:0025362Renal medullary pyramid hypoplasia1 CL E G H


Genes (2) :LONP1 PDHA1

Diseases (1) :ORPHA:79243
 

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