(Q1516888)

English

inclusion-cell disease

Human disease

ML II
mucolipidosis II
I-cell disease
Mucolipidosis 2
Ml 2 Alpha/Beta
N-acetylglucosamine 1-phosphotransferase deficiency
MUCOLIPIDOSIS II ALPHA/BETA
Mucolipidosis Type II
mcolipidosis II alpha/beta

In more languages

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

rare genetic developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

lysosomal storage disease with skeletal involvement

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

0 references

health specialty

0 references

genetic association

3 references

UniProt protein ID

13 August 2019

A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000111670/MONDO_0009650

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

NCI Thesaurus ID

C61270

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://purl.obolibrary.org/obo/DOID_0080070

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0080070

1 reference

Identifiers.org

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

http://www.orpha.net/ORDO/Orphanet_576

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

025fb344-d763-4b77-8801-7bd097184301

1 reference

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

Freebase Data Dumps

publication date

28 October 2013

GARD rare disease ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

ICD-11 (foundation)

0 references

1 reference

imported from Wikimedia project

English Wikipedia

Microsoft Academic ID

0 references

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

0 references

WikiProjectMed ID

0 references

Sitelinks

Wikipedia(9 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)

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