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About:
Spondyloepiphyseal dysplasia tarda
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Type:
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New Facet based on Instances of this Class
Attributes
Values
label
spondyloepiphyseal dysplasia tarda
schema:identifier
c0265288
ISA
Disease
Dysplasia
Skeletal dysplasia
Bone Diseases, Developmental
PROCESS_OF
C0030705
Family
Child
Woman
AFFECTS
Mutation
NEG_PROCESS_OF
Relative (related person)
is
LOCATION_OF
of
Xp22.1
is
COEXISTS_WITH
of
osteosarcoma
Hernia
Short stature
is
ASSOCIATED_WITH
of
Genes
Protein complex
TRAPPC2
MIA3
SEDL gene|TRAPPC2
is
DIAGNOSES
of
Prenatal Diagnosis
is
CAUSES
of
Mutation
Arthropathies NOS
Insertion Mutation
TRAPPC2
SEDL gene|TRAPPC2
Platyspondylia
is
TREATS
of
Therapeutic procedure
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