Sialidosis type 1 (Q7506658)

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Lysosomal storage disease

• ML I
• type 1 Mucolipidosis
• Cherry-red spot-myoclonus syndrome
• Normomorphic sialidosis
• Lipomucopolysaccharidosis

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Language	Label	Description	Also known as
English	Sialidosis type 1	Lysosomal storage disease	ML I type 1 Mucolipidosis Cherry-red spot-myoclonus syndrome Normomorphic sialidosis Lipomucopolysaccharidosis

Statements

instance of

rare disease

0 references

class of disease

0 references

subclass of

glycoproteinosis

0 references

sialidosis

0 references

image

Sialic acid.png
185 × 80; 2 KB

1 reference

imported from Wikimedia project

Spanish Wikipedia

Wikimedia import URL

https://es.wikipedia.org/w/index.php?title=Sialidosis&oldid=120127981

health specialty

endocrinology

0 references

genetic association

NEU1

1 reference

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000204386/Orphanet_812

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

http://www.orpha.net/ORDO/Orphanet_812

0 references

Identifiers

BabelNet ID

01907381n

1 reference

stated in

BabelNet

DiseasesDB

12058

1 reference

imported from Wikimedia project

English Wikipedia

29377

1 reference

imported from Wikimedia project

English Wikipedia

eMedicine ID

948704

1 reference

imported from Wikimedia project

English Wikipedia

ICD-10

E77.1

1 reference

imported from Wikimedia project

English Wikipedia

ICD-10-CM

E77.1

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0019346

ICD-11 (foundation)

1154773192

0 references

Medical Dictionary for Regulatory Activities ID

10086143

1 reference

reference URL

https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx

based on heuristic

inferred by common ICD-10 mappings on Wikidata and on source

Microsoft Academic ID

2776409850

0 references

2910473437

0 references

Mondo ID

MONDO_0019346

0 references

OMIM ID

256550

1 reference

imported from Wikimedia project

English Wikipedia

Orphanet ID

812

mapping relation type

exact match

2 references

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0019346

stated in

Orphanet Rare Disease Ontology

reference URL

https://www.orpha.net/consor/cgi-bin//OC_Exp.php?lng=EN&Expert=812

UMLS CUI

C0268226

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0019346

C1850510

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0019346

C0023806

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0019346

WikiProjectMed ID

Sialidosis

0 references

 

Sitelinks

Wikipedia(4 entries)

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• enwiki Sialidosis
• eswiki Sialidosis
• fawiki سیالیدوز
• ruwiki Сиалидоз

Wikibooks(0 entries)

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Wikinews(0 entries)

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Wikiquote(0 entries)

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Wikisource(0 entries)

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Wikiversity(0 entries)

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Wikivoyage(0 entries)

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Wiktionary(0 entries)

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Multilingual sites(0 entries)

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