Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Our Team
Agenesis of the corpus callosum, camptodactyly and obesity.
[cohen syndrome]
We
report
a
16
-
year
-old
girl
with
agenesis
of
the
corpus
callosum
,
congenital
heart
disease
(
ventricular
septal
defect
and
abnormal
venous
return
)
,
5
th
digit
camptodactyly
and
obesity
,
born
to
first
cousin
Italian
parents
.
Although
this
child
shares
features
with
acrocallosal
syndrome
and
Camera-
Marugo-
Cohen
syndrome
,
we
think
that
this
combination
of
anomalies
allows
the
delineation
of
a
new
MCA
/
MR
syndrome
,
possibly
recessively
inherited
.
Diseases
Validation
Diseases presenting
"obesity"
symptom
acute rheumatic fever
adrenal incidentaloma
aniridia
aromatase deficiency
carcinoma of the gallbladder
cohen syndrome
congenital adrenal hyperplasia
cushing syndrome
cystinuria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
heparin-induced thrombocytopenia
kabuki syndrome
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
sneddon syndrome
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated