Human Phenotype Ontology 
Grandparent Node:
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Acidosis (HP:0001941)help
Parent Node:
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Metabolic acidosis (HP:0001942)help
..Starting node
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Episodic metabolic acidosis (HP:0004911)help
Term ID: 4911
Name: Episodic metabolic acidosis
Synonym: Recurrent episodes of acidosis
Definition: Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.
Comments:
Reference: HP:0004911
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandChronic metabolic acidosis (HP:0001996) help
..expandHyperkalemic metabolic acidosis (HP:0005976) help
..expandMetabolic ketoacidosis (HP:0005979) help
..expandMixed respiratory and metabolic acidosis (HP:0005967) 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:0004911HP:0004911Episodic metabolic acidosis0ACADS CL E G H3590OMIM:201470Acyl-Coa dehydrogenase, short-chain, deficiency of.90
HP:0004911HP:0004911Episodic metabolic acidosis0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic.178
HP:0004911HP:0004911Episodic metabolic acidosis0MCCC1 CL E G H569226936OMIM:2102003-Methylcrotonyl-CoA carboxylase 1 deficiency.81
HP:0004911HP:0004911Episodic metabolic acidosis0MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0004911HP:0004911Episodic metabolic acidosis0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134


Genes (5) :ACADS CTNS MCCC1 MMUT NFU1

Diseases (5) :OMIM:201470 OMIM:219800 OMIM:210200 OMIM:251000 OMIM:605711
 

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