Human Phenotype Ontology

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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
..Long-chain dicarboxylic aciduria (HP:0008293)

Term ID:

8293

Name:

Long-chain dicarboxylic aciduria

Synonym:

Definition:

An increase in the level of long-chain dicarboxylic acid in the urine.

Comments:

Reference:

HP:0008293

Genes and Diseases:

Child Nodes:

Sister Nodes:

3-hydroxydicarboxylic aciduria (HP:0008160)

D-2-hydroxyglutaric aciduria (HP:0012321)

Ethylmalonic aciduria (HP:0003219)

Glutaric aciduria (HP:0003150)

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

L-2-hydroxyglutaric aciduria (HP:0040144)

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:0008293	HP:0008293	Long-chain dicarboxylic aciduria	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101

Genes (1) :CPT2

Diseases (1) :OMIM:608836

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