Ehlers-Danlos syndrome, kyphoscoliotic type 1
A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.
MONDO:0005328
eye disorder
is_a
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0020066
Ehlers-Danlos syndrome
is_a
MONDO:0023603
hereditary disorder of connective tissue
is_a
EDS 6
exact
EDS 6 (formerly)
related
EDS VI
related
EDS VIA
narrow
EDS, kyphoscoliotic type
exact
EDS, oculoscoliotic type
exact
EDS6
exact
EDS6A, formerly
related
EDSKSCL1
related
Ehlers-Danlos syndrome kyphoscoliotic type
exact
Ehlers-Danlos syndrome oculoscoliotic type
related
Ehlers-Danlos syndrome type 6 (formerly)
related
Ehlers-Danlos syndrome type 6A
narrow
Ehlers-Danlos syndrome type 6A (formerly)
related
Ehlers-Danlos syndrome, kyphoscoliosis type
related
Ehlers-Danlos syndrome, kyphoscoliotic type
exact
Ehlers-Danlos syndrome, kyphoscoliotic type 1
exact
Ehlers-Danlos syndrome, ocular-scoliotic type
related
Ehlers-Danlos syndrome, oculoscoliotic type
exact
Ehlers-Danlos syndrome, type 6
exact
Ehlers-Danlos syndrome, type 6 A
related
Ehlers-Danlos syndrome, type VI
related
Ehlers-Danlos syndrome, type VIA
narrow
Ehlers-Danlos syndrome, type VIA, formerly
narrow
Ehlers-Danlos syndrome, type Via
narrow
Ehlers-Danlos syndrome, type Via, formerly
narrow
kEDS
related
kyphoscoliotic EDS
related
kyphoscoliotic Ehlers-Danlos syndrome
related
kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
exact
nevo syndrome
exact
SPAC27F1.06c