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:
Aciduria (HP:0012072)

Parent Node:
Aminoaciduria (HP:0003355)

Parent Node:
Organic aciduria (HP:0001992)

..Starting node
..Complex organic aciduria (HP:0008336)

Term ID:

8336

Name:

Complex organic aciduria

Synonym:

Definition:

Comments:

Reference:

HP:0008336

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dicarboxylic aciduria (HP:0003215)

Elevated urinary carboxylic acid (HP:0040156)

Hyperoxaluria (HP:0003159)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008336	HP:0008336	Complex organic aciduria	0	CL E G H

Genes (0) :

Diseases (0) :

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