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muscle-eye-brain disease

Go to external page http://purl.obolibrary.org/obo/MONDO_0018939

A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported. [ Orphanet:588 ]

Synonyms: MEB syndrome muscle-eye-brain disease Santavuori congenital muscular dystrophy muscle-eye-brain syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • ICD9:742.4 (MONDO:relatedTo)
  • GARD:156 (Orphanet:588)
  • Orphanet:588 (MONDO:equivalentTo)
  • SCTID:277950001 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

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

http://identifiers.org/snomedct/277950001

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0018869

http://purl.obolibrary.org/obo/MONDO_0015327

http://purl.obolibrary.org/obo/MONDO_0700066

http://purl.obolibrary.org/obo/MONDO_0016185

http://purl.obolibrary.org/obo/MONDO_0700068

http://purl.obolibrary.org/obo/MONDO_0018276

has narrow synonym

muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3

has related synonym

muscle eye brain disease

MEB

id

MONDO:0018939

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0018939

https://rarediseases.info.nih.gov/diseases/156/muscle-eye-brain-disease

Term relations