# Schindler disease

> Rare congenital metabolic disorder in humans.

**Wikidata**: [Q310335](https://www.wikidata.org/wiki/Q310335)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Schindler_disease)  
**Source**: https://4ort.xyz/entity/schindler-disease


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria
4. Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy
5. Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)