obsolete kyphoscoliotic Ehlers-Danlos syndrome

EDS VI

kyphoscoliotic EDS

OBSOLETE. A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP14 (formerly FKBP22), and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype.

http://purl.obolibrary.org/obo/MONDO_0034024

true

NANDO:2201259

Orphanet:536545

NANDO:1200649

GARD:2083

OBSOLETE. A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP14 (formerly FKBP22), and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype.

true

http://purl.obolibrary.org/obo/Orphanet_536545

kyphoscoliotic EDS

EDS VI

http://purl.obolibrary.org/obo/OMO_0001000

https://github.com/monarch-initiative/mondo/issues/4918

https://github.com/monarch-initiative/mondo/issues/6877

https://github.com/monarch-initiative/mondo/issues/6878

https://github.com/monarch-initiative/mondo/issues/6876

https://github.com/monarch-initiative/mondo/issues/5114

MONDO:0034024

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease

obsolete kyphoscoliotic Ehlers-Danlos syndrome

MONDO:0034024

obsolete kyphoscoliotic Ehlers-Danlos syndrome

http://www.ebi.ac.uk/efo/EFO_0700133