Rare Diseases Symptoms Automatic Extraction
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A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.
[achondroplasia]
Little
information
is
available
on
the
prevalence
,
geographic
distribution
and
mutation
spectrum
of
genetic
skeletal
disorders
(
GSDs
)
in
China
.
This
study
systematically
reviewed
GSDs
as
defined
in
"
Nosology
and
Classification
of
genetic
skeletal
disorders
(
2010
version
)
"
using
Chinese
biomedical
literature
published
over
the
past
34
years
from
1978
to
2012
.
In
total
,
16
,
099
GSDs
have
been
reported
.
The
most
frequently
reported
disorders
were
Marfan
syndrome
,
osteogenesis
imperfecta
,
fibrous
dysplasia
,
mucopolysaccharidosis
,
multiple
cartilaginous
exostoses
,
neurofibromatosis
type
1
(
NF
1
)
,
osteopetrosis
,
achondroplasia
,
enchondromatosis
(
Ollier
)
,
and
osteopoikilosis
,
accounting
for
76
.
5
%
(
12
,
312
cases
)
of
the
total
cases
.
Five
groups
(
group
8
,
12
,
14
,
18
,
21
)
defined
by
"
Nosology
and
Classification
of
genetic
skeletal
disorders
"
have
not
been
reported
in
the
Chinese
biomedical
literature
.
Gene
mutation
testing
was
performed
in
only
a
minor
portion
of
the
16
,
099
cases
of
GSDs
(
187
cases
,
1
.
16
%
)
.
In
total
,
37
genes
for
41
different
GSDs
were
reported
in
Chinese
biomedical
literature
,
including
43
novel
mutations
.
This
review
revealed
a
significant
imbalance
in
rare
disease
identification
in
terms
of
geographic
regions
and
hospital
levels
,
suggesting
the
need
to
create
a
national
multi-level
network
to
meet
the
specific
challenge
of
care
for
rare
diseases
in
China
.
Diseases
Validation
Diseases presenting
"exostoses"
symptom
achondroplasia
This symptom has already been validated
