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:
Abnormality of metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormal circulating carboxylic acid concentration (HP:0004354)

..Starting node
..Aldehyde oxidase deficiency (HP:0002932)

Term ID:

2932

Name:

Aldehyde oxidase deficiency

Synonym:

Definition:

A reduction in aldehyde oxidase level.

Comments:

Reference:

HP:0002932

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal circulating dicarboxylic acid concentration (HP:0010995)

Abnormal circulating monocarboxylic acid concentration (HP:0010996)

Abnormality of amino acid metabolism (HP:0004337)

Elevated urinary carboxylic acid (HP:0040156)

Increased level of galactonate in red blood cells (HP:0410063)

Increased level of hippuric acid in blood (HP:0410065)

Increased level of hippuric acid in urine (HP:0410066)

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:0002932	HP:0002932	Aldehyde oxidase deficiency	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96

Genes (1) :MOCS1

Diseases (1) :OMIM:252150

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