Human Phenotype Ontology 
Grandparent Node:
expandAbnormal renal tubule morphology (HP:0000091)help
Parent Node:
expandProximal tubulopathy (HP:0000114)help
..Starting node
..expandNon-acidotic proximal tubulopathy (HP:0005574)help
Term ID: 5574
Name: Non-acidotic proximal tubulopathy
Synonym:
Definition: A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss.
Comments:
Reference: HP:0005574
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandGlobal proximal tubulopathy (HP:0012573) 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:0005574HP:0005574Non-acidotic proximal tubulopathy0LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndrome289


Genes (1) :LRP2

Diseases (1) :OMIM:222448
 

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