Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Equine diseases caused by known genetic mutations.
[junctional epidermolysis bullosa]
The
recent
development
of
equine
genome
maps
by
the
equine
genome
community
and
the
complete
sequencing
of
the
horse
genome
performed
at
the
Broad
Institute
have
accelerated
the
pace
of
genetic
discovery
.
This
review
focuses
on
genetic
diseases
in
the
horse
for
which
a
mutation
is
currently
known
,
including
hyperkalemic
periodic
paralysis
,
severe
combined
immunodeficiency
,
overo
lethal
white
syndrome
,
junctional
epidermolysis
bullosa
,
glycogen
branching
enzyme
deficiency
,
malignant
hyperthermia
,
hereditary
equine
regional
dermal
asthenia
,
and
polysaccharide
storage
myopathy
.
Emphasis
is
placed
on
the
prevalence
,
clinical
signs
,
etiology
,
diagnosis
,
treatment
and
prognosis
for
each
disease
.
Diseases
Validation
Diseases presenting
"myopathy"
symptom
coats disease
cushing syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
familial mediterranean fever
focal myositis
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
lymphangioleiomyomatosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
pyruvate dehydrogenase deficiency
This symptom has already been validated