WormMine: DiseaseOntology DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency Disease Ontology

Name
Disease Ontology

Identifier	Name	Description
DOID:4	disease	A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:0014667	disease of metabolism	A disease that involving errors in metabolic processes of building or degradation of molecules.
DOID:630	genetic disease	A disease that has_material_basis_in genetic variations in the human genome.
DOID:655	inherited metabolic disorder	A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
DOID:0050718	vitamin metabolic disorder	An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism.
DOID:0111329	pyridoxamine 5'-phosphate oxidase deficiency	A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32.

Name	Type
pyridoxamine 5-prime-phosphate oxidase deficiency	synonym
PNPO deficiency	synonym
PNPO-related neonatal epileptic encephalopathy	synonym
pyridoxal 5'-phosphate-dependent epilepsy	synonym
pyridoxal phosphate-dependent seizures	synonym
pyridoxal phosphate-responsive seizures	synonym
pyridoxamine 5'-oxidase deficiency	synonym

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