Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal circulating dicarboxylic acid concentration (HP:0010995)

Grandparent Node:
Organic aciduria (HP:0001992)

Parent Node:
Dicarboxylic aciduria (HP:0003215)

..Starting node
..Glutaric aciduria (HP:0003150)

Term ID:

3150

Name:

Glutaric aciduria

Synonym:

Glutarate aciduria; Glutaricaciduria; Increased glutarate level in urine

Definition:

An increased concentration of glutaric acid in the urine.

Comments:

Reference:

HP:0003150

Genes and Diseases:

Child Nodes:

Sister Nodes:

3-hydroxydicarboxylic aciduria (HP:0008160)

D-2-hydroxyglutaric aciduria (HP:0012321)

Ethylmalonic aciduria (HP:0003219)

Increased level of 3-hydroxy-3-methylglutaric acid in urine (HP:0410051)

L-2-hydroxyglutaric aciduria (HP:0040144)

Long-chain dicarboxylic aciduria (HP:0008293)

Medium chain dicarboxylic aciduria (HP:0008309)

Methylmalonic aciduria (HP:0012120)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003150	HP:0003150	Glutaric aciduria	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.	102
HP:0003150	HP:0003150	Glutaric aciduria	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.	25
HP:0003150	HP:0003150	Glutaric aciduria	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0003150	HP:0003150	Glutaric aciduria	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0003150	HP:0003150	Glutaric aciduria	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0003150	HP:0003150	Glutaric aciduria	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.	115
HP:0003150	HP:0003150	Glutaric aciduria	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent	115
HP:0003150	HP:0003150	Glutaric aciduria	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.	35
HP:0003150	HP:0003150	Glutaric aciduria	0	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3	HP:0040280 - Obligate	8
HP:0003150	HP:0003150	Glutaric aciduria	0	SUGCT CL E G H	79783	16001	OMIM:231690	Glutaric aciduria III	.	8

Genes (8) :D2HGDH DNAJC19 ETFA ETFB ETFDH GCDH HMGCL SUGCT

Diseases (8) :OMIM:600721 OMIM:610198 OMIM:231680 OMIM:231670 ORPHA:25 OMIM:246450 ORPHA:35706 OMIM:231690

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

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