(Q310335)

English

Schindler disease

Rare congenital metabolic disorder in humans.

Kanzaki disease
NAGA deficiency
Alpha-N-acetylgalactosaminidase deficiency

In more languages

edit

Statements

0 references

0 references

0 references

lysosomal storage disease

1 reference

18 January 2022

autosomal recessive disease

1 reference

18 January 2022

0 references

0 references

3 references

The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria

stated in

Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy

stated in

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype

ICD-9-CM

277.89

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

http://purl.obolibrary.org/obo/DOID_0112317

1 reference

18 January 2022

http://identifiers.org/doid/DOID:0112317

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

Identifiers

0 references

1 reference

18 January 2022

1 reference

imported from Wikimedia project

English Wikipedia

GARD rare disease ID

9161

0 references

Genetics Home Reference Conditions ID

schindler-disease

0 references

ICD-10

E77.1

1 reference

imported from Wikimedia project

1 reference

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0017779

Microsoft Academic ID

0 references

0 references

1 reference

imported from Wikimedia project

English Wikipedia

609242

1 reference

imported from Wikimedia project

English Wikipedia

Orphanet ID

3137

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

0 references

Sitelinks

Wikipedia(6 entries)

dewiki Α-N-Acetylgalactosaminidase-Mangel
enwiki Schindler disease
eswiki Enfermedad de Schindler
fawiki بیماری شیندلر
fiwiki Schindlerin tauti
itwiki Malattia di Schindler

(Q310335)

Schindler disease

Statements

Identifiers

Sitelinks

Wikipedia(6 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)