Schindler disease

Term ID

DOID:0112317

Synonyms

alpha-N-acetylgalactosaminidase deficiency
NAGA deficiency

Definition

A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. https://pubmed.ncbi.nlm.nih.gov/3149698/

References

ORDO:3137

Ontology

Human Disease ( DOID:0112317 )

Relationships

is a type of: autosomal recessive disease lysosomal storage disease

autosomal recessive disease lysosomal storage disease Show first 5 Terms
has subtype: Kanzaki disease Schindler disease type 1 Schindler disease type 3

Kanzaki disease Schindler disease type 1 Schindler disease type 3 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations