ZFIN Human Disease: Schindler disease

OBO ID: DOID:0112317

Term Name:	Schindler disease		Search Ontology:
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 Schindler disease PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None