lethal congenital contracture syndrome 1

lethal congenital contracture syndrome 1

http://purl.obolibrary.org/obo/DOID_0060559

A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/9683599 ]

Synonyms: multiple contracture syndrome, Finnish type LCCS1

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database cross reference

MIM:253310
SNOMEDCT_US_2023_03_01:715418007
MESH:C537194
ORDO:1486
UMLS_CUI:C1854664
GARD:3227

Subsets

DO_rare_slim

acronym

LCCS1

has obo namespace

disease_ontology

DOID:0060559

Term relations

Subclass of:

lethal congenital contracture syndrome
disease has basis in some Abnormality of prenatal development or birth