Human Phenotype Ontology 
Grandparent Node:
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Acidosis (HP:0001941)help
Parent Node:
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Ketoacidosis (HP:0001993)help
Parent Node:
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Metabolic acidosis (HP:0001942)help
..Starting node
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Metabolic ketoacidosis (HP:0005979)help
Term ID: 5979
Name: Metabolic ketoacidosis
Synonym: Starvation ketoacidosis
Definition: A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake.
Comments:
Reference: HP:0005979
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandChronic metabolic acidosis (HP:0001996) help
..expandEpisodic metabolic acidosis (HP:0004911) help
..expandHyperkalemic metabolic acidosis (HP:0005976) 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:0005979HP:0005979Metabolic ketoacidosis0BTD CL E G H6861122ORPHA:79241Biotinidase deficiencyHP:0040281 - Very frequent223
HP:0005979HP:0005979Metabolic ketoacidosis0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0005979HP:0005979Metabolic ketoacidosis0CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 612
HP:0005979HP:0005979Metabolic ketoacidosis0HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiencyHP:0040282 - Frequent138
HP:0005979HP:0005979Metabolic ketoacidosis0MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency.


Genes (4) :BTD CYC1 HNF4A MMUT

Diseases (5) :ORPHA:79241 OMIM:253260 OMIM:615453 ORPHA:263455 OMIM:251000
 

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