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Summary Literature (1)
MIM:615539 - EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2


Xenbase Genes: dse

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011142 - Ehlers-Danlos syndrome, musculocontractural type
MONDO:0014236 - Ehlers-Danlos syndrome, musculocontractural type 2

Disease Ontology (DO):
DOID:0080735 - Ehlers-Danlos syndrome kyphoscoliotic type 2
DOID:0080737 - Ehlers-Danlos syndrome musculocontractural type 2