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Metadata
ID DOID:0060559
Name lethal congenital contracture syndrome 1
Definition A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34.
https://www.ncbi.nlm.nih.gov/pubmed/9683599
Xrefs

GARD:3227

MESH:C537194

OMIM:253310

ORDO:1486

UMLS_CUI:C1854664

Synonyms

LCCS1 [EXACT]

multiple contracture syndrome, Finnish type [EXACT]

Parent Relationships

is_a lethal congenital contracture syndrome

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