WormMine: DiseaseOntology DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATP8A2 gene on chromosome 13q12.13.

1 Ontology

• Name: Disease Ontology

8 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:225	syndrome	A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
DOID:0050177	monogenic disease	A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630	genetic disease	A disease that has_material_basis_in genetic variations in the human genome.
DOID:0050739	autosomal genetic disease	A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
DOID:0050737	autosomal recessive disease	An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
DOID:0050997	cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome	A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.
DOID:0070559	cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4	A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATP8A2 gene on chromosome 13q12.13.

7 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:0050997	DOID:0070559
is_a	DOID:0050739	DOID:0070559
is_a	DOID:0050737	DOID:0070559
is_a	DOID:0050177	DOID:0070559
is_a	DOID:4	DOID:0070559
is_a	DOID:225	DOID:0070559
is_a	DOID:630	DOID:0070559

5 Synonyms

• Name: CAMRQ syndrome 4
• Type: synonym

• Name: CAMRQ4
• Type: synonym

• Name: cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4
• Type: synonym

• Name: cerebellar ataxia, mental retardation, and disequilibrium syndrome 4
• Type: synonym

• Name: cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
• Type: synonym