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Ehlers-Danlos syndrome, kyphoscoliotic type 1

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.
Uniprot Description A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL1 is an autosomal recessive form characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe.
Mondo Term and Equivalent IDs
MONDO:0016002:  Ehlers-Danlos syndrome, kyphoscoliotic type 1
GARD:0002083: 
MESH:C536198: 
NCIT:C125700: 
Orphanet:1900: 
SCTID:718211004: 
UMLS:C0268342: 
UMLS:CN202461: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found