About: muscle-eye-brain disease

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

disease

Attributes	Values
rdf:type	Item
owl:sameAs	muscle-eye-brain disease
description	disease (en) Krankheit (de) malattia (it) хвороба (uk)
exact match	wds:Q3508572-E1C9574F-1D9C-465D-9B94-95A72E664C4E
exact match	http://www.orpha.net/ORDO/Orphanet_588
Mondo ID	wds:Q3508572-72784CFF-E118-4BD6-B4E2-88D029C08E88
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0018939
Mondo ID	MONDO_0018939
rdfs:label	Muskel-Auge-Gehirn-Krankheit (de) muscle-eye-brain disease (en) syndrome Muscle-Eye-Brain (fr)
skos:prefLabel	Muskel-Auge-Gehirn-Krankheit (de) muscle-eye-brain disease (en) syndrome Muscle-Eye-Brain (fr)
name	Muskel-Auge-Gehirn-Krankheit (de) muscle-eye-brain disease (en) syndrome Muscle-Eye-Brain (fr)
MalaCards ID	wds:Q3508572-654e13ab-4763-9e19-ec37-32b21a3002af
MalaCards ID	muscle_eye_brain_disease_2
instance of	wds:Q3508572-15F91602-F3AE-437C-9C89-5FE8DE2314D4 wds:Q3508572-32178578-A846-4BDF-8CD1-3803ECFF996C
instance of	class of disease rare disease
subclass of	wds:Q3508572-73788f80-436a-75fa-c95d-2d376c46b161
subclass of	lissencephaly
UniProt disease ID	wds:Q3508572-a06ebb93-4d92-daff-006e-23c8dff6198a
Orphanet ID	wds:Q3508572-21BFE382-561E-419C-9AC3-1306F4976CF7
ICD-9-CM	wds:Q3508572-FC433DC3-92F6-42AB-B80D-FD347AB17CD7
genetic association	wds:Q3508572-44871608-8CCF-494E-BA8F-FF3B53211A03 wds:Q3508572-5B7866FB-8E10-4FCE-AB62-FA5AE0DC0E9F wds:Q3508572-6A99CE6E-DA6D-4875-B8AC-5588022479D4 wds:Q3508572-9AD94E3B-EAAA-47F4-A351-511926ACF8A2 wds:Q3508572-C868E17C-0941-482D-8427-D3102A6DFDEB
ICD-10-CM	wds:Q3508572-DED790EF-962E-4007-BEB8-6115D197327D
GARD rare disease ID	wds:Q3508572-2A036095-AFB7-4A07-949A-866CF0FA7D11
UniProt disease ID	DI-00792
Orphanet ID	588
ICD-9-CM	742.4
genetic association	LARGE1 B3GALNT2 FKRP POMT2 GMPPB
ICD-10-CM	Q04.3
GARD rare disease ID	156
skos:altLabel	MEB (en) MDDGA3 (en) MEB disease (en) MEB syndrome (en) Maladie de Santavuori (fr) Syndrome muscle-eye-brain (fr) muscle eye brain disease (en) muscle-eye-brain syndrome (en) santavuori congenital muscular dystrophy (en) muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (en)
NCI Thesaurus ID	wds:Q3508572-567b5de0-4c16-4de4-308d-6504b7880f1a
UMLS CUI	wds:Q3508572-D4A6BCAB-6C31-400A-AA77-71C74256F685
ICD-11 (foundation)	wds:Q3508572-50398F55-3FE2-4722-9CC3-0AA2EAE17E8E
NCI Thesaurus ID	C126740
UMLS CUI	C0457133
ICD-11 (foundation)	1330230975
is owl:sameAs of	muscle-eye-brain disease
is about of	muscle-eye-brain disease https://www.wikidata.org/wiki/Special:EntityData/Q3508572 Muscle–eye–brain disease https://de.wikipedia.org/wiki/Muskel-Auge-Gehirn-Krankheit https://fr.wikipedia.org/wiki/Syndrome_Muscle-Eye-Brain
is main subject of	Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease Muscle-eye-brain disease (MEB) A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1) Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping Muscle-eye-brain disease: a neuropathological study Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study. Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients. Muscle-eye-brain disease and Walker-Warburg syndrome. Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1. Retinal ectopias and mechanically weakened basement membrane in a mouse model of muscle-eye-brain (MEB) disease congenital muscular dystrophy A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein. Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts. Neuropathological findings in muscle-eye-brain disease (MEB-D). Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type. MRI of the brain in muscle-eye-brain (MEB) disease Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic. Response to Santavuori et al. regarding Walker-Warburg syndrome and muscle-eye-brain disease Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features. RPTPζ/phosphacan is abnormally glycosylated in a model of muscle-eye-brain disease lacking functional POMGnT1 Multiple retinal holes and peripheral nonperfusion in muscle-eye-brain disease Muscle-eye-brain disease and Walker-Warburg syndrome: phenotype-genotype speculations. Commentary to Pihko's paper (pp. 57-61) An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene. B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss. [Congenital muscular dystrophies: muscle-eye-brain disease] Muscle-eye-brain disease (MEB)

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