Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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[Clinical condition and therapy of bone diseases].
[achondroplasia]
Skeletal
dysplasia
is
the
term
which
represents
disorders
including
growth
and
differentiation
of
bone
,
cartilage
and
ligament
.
A
lot
of
diseases
are
included
,
and
new
disorders
have
been
added
.
However
,
the
therapy
of
most
bone
diseases
is
less
well-established
.
Achondroplasia
,
hypochondroplasia
,
and
osteogenesis
imperfecta
are
most
frequent
bone
diseases
.
There
is
no
curative
treatment
for
these
diseases
,
however
,
supportive
therapies
are
available
;
for
example
,
growth
-hormone
therapy
for
achondroplasia
and
hypochondroplasia
,
and
bisphosphonate
therapy
for
osteogenesis
imperfecta
.
In
addition
,
enzyme
replacement
therapy
for
hypophosphatasia
is
now
on
clinical
trial
.
Diseases
Validation
Diseases presenting
"skeletal dysplasia"
symptom
achondroplasia
aromatase deficiency
cohen syndrome
dentinogenesis imperfecta
gm1 gangliosidosis
oligodontia
This symptom has already been validated