WormMine: DiseaseOntology DOID:0090028 familial isolated deficiency of vitamin E Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12.

1 Ontology

• Name: Disease Ontology

6 Parents

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:0090028	familial isolated deficiency of vitamin E	A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12.

5 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:0050718	DOID:0090028
is_a	DOID:630	DOID:0090028
is_a	DOID:4	DOID:0090028
is_a	DOID:0014667	DOID:0090028
is_a	DOID:655	DOID:0090028

2 Synonyms

• Name: ataxia with isolated vitamin E deficiency
• Type: synonym

• Name: familial isolated vitamin E deficiency
• Type: synonym