sialidosis type 2 (Q92306977)

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human disease

• ST-2
• neuraminidase deficiency
• Mucolipidosis type 1

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Language	Label	Description	Also known as
English	sialidosis type 2	human disease	ST-2 neuraminidase deficiency Mucolipidosis type 1

Statements

instance of

developmental defect during embryogenesis

0 references

class of disease

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subclass of

sialidosis

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genetic association

NEU1

1 reference

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000204386/Orphanet_87876

based on heuristic

inferred from an Open Targets association score over 0.7

NCI Thesaurus ID

C125596

0 references

Identifiers

GARD rare disease ID

7183

0 references

ICD-11 ID (Foundation)

1855856697

0 references

Orphanet ID

87876

0 references

UMLS CUI

C0268226

0 references

C3888317

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

stated in

UMLS 2023

retrieved

16 June 2023

 

Sitelinks

Wikipedia(0 entries)

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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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