(Q3508572)

English

muscle-eye-brain disease

disease

MEB
muscle-eye-brain syndrome
MEB syndrome
muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3
santavuori congenital muscular dystrophy
muscle eye brain disease
MEB disease
MDDGA3

In more languages

Statements

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class of disease

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genetic association

1 reference

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

1 reference

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

1 reference

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

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Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

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Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

742.4

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

NCI Thesaurus ID

C126740

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http://www.orpha.net/ORDO/Orphanet_588

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Identifiers

GARD rare disease ID

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

ICD-11 (foundation)

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muscle_eye_brain_disease_2

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mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

UniProt disease ID

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Sitelinks

Wikipedia(3 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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