Human Phenotype Ontology 
Grandparent Node:
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Abnormality of mitochondrial metabolism (HP:0003287)help
Grandparent Node:
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Aminoaciduria (HP:0003355)help
Parent Node:
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3-Methylglutaconic aciduria (HP:0003535)help
..Starting node
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3-Methylglutaric aciduria (HP:0003344)help
Term ID: 3344
Name: 3-Methylglutaric aciduria
Synonym: 3-methylglutaricaciduria
Definition: An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine.
Comments:
Reference: HP:0003344
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003344HP:00033443-Methylglutaric aciduria0DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V.25
HP:0003344HP:00033443-Methylglutaric aciduria0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040281 - Very frequent35
HP:0003344HP:00033443-Methylglutaric aciduria0HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency.35
HP:0003344HP:00033443-Methylglutaric aciduria0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII39
HP:0003344HP:00033443-Methylglutaric aciduria0OPA3 CL E G H802078142OMIM:2585013-methylglutaconic aciduria, type III163
HP:0003344HP:00033443-Methylglutaric aciduria0TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX1


Genes (5) :DNAJC19 HMGCL HTRA2 OPA3 TIMM50

Diseases (6) :OMIM:610198 ORPHA:20 OMIM:246450 OMIM:617248 OMIM:258501 OMIM:617698
 

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