Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of urine homeostasis (HP:0003110)help
Parent Node:
expandProteinuria (HP:0000093)help
..Starting node
..expandNephrotic range proteinuria (HP:0012593)help
Term ID: 12593
Name: Nephrotic range proteinuria
Synonym:
Definition: Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children.
Comments:
Reference: HP:0012593
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAlbuminuria (HP:0012592) help
..expandBence Jones Proteinuria (HP:0030156) help
..expandBeta 2-microglobulinuria (HP:0025466) help
..expandHeavy proteinuria (HP:0012597) help
..expandLow-molecular-weight proteinuria (HP:0003126) help
..expandMild proteinuria (HP:0012595) help
..expandModerate proteinuria (HP:0012596) 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:0012593HP:0012593Nephrotic range proteinuria0CD81 CL E G H9751701OMIM:613496Immunodeficiency, common variable, 61
HP:0012593HP:0012593Nephrotic range proteinuria0DDOST CL E G H16502728ORPHA:300536DDOST-CDGHP:0040284 - Very rare62
HP:0012593HP:0012593Nephrotic range proteinuria0NOS1AP CL E G H972216859OMIM:619155NEPHROTIC SYNDROME, TYPE 22; NPHS224
HP:0012593HP:0012593Nephrotic range proteinuria0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040282 - Frequent74


Genes (4) :CD81 DDOST NOS1AP SMARCAL1

Diseases (4) :OMIM:613496 ORPHA:300536 OMIM:619155 ORPHA:1830
 

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