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About:
Spondyloepiphyseal Dysplasia
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An Entity of Type :
about:cgab#this
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associated with source
document(s)
Type:
dsyn
cgab
New Facet based on Instances of this Class
Attributes
Values
label
spondyloepiphyseal dysplasia
COEXISTS_WITH
Symptoms
Rare Diseases
Mucopolysaccharidosis IV
Encounter due to genetic counseling
Immuno-osseous dysplasia
schema:identifier
c0038015
ISA
Disease
Dysplasia
Skeletal dysplasia
Chondrodysplasia, unspecified
Disorder of skeletal system
CAUSES
Growth
PROCESS_OF
C0030705
Family
Human
Child
Individual
Woman
AFFECTS
C0030705
is
COEXISTS_WITH
of
Hernia
Short stature
Shortened trunk
Conductive hearing loss
Dwarfism
Epiphyseal dysplasia
Hip joint varus deformity - observation
Congenital dwarfism
is
ASSOCIATED_WITH
of
Glycosaminoglycans
Genetic Heterogeneity
acid beta-galactosidase
is
ISA
of
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
is
CAUSES
of
Mutation
Cysteine
Amino Acid Substitution
Collagen
Growth retardation
Mutation, Missense
Osteopenia
Collagen Type II
COL2A1 gene|COL2A1
is
TREATS
of
Screening procedure
Intervention regimes
Osteotomy
Fusion procedure
Cesarean section
is
AFFECTS
of
COL2A1 gene|COL2A1
Faceted Search & Find service v1.17_git42 as of Oct 29 2019
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