Rare Diseases Symptoms Automatic Extraction
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[Erythropoietic porphyrias].
[erythropoietic protoporphyria]
Erythropoietic
,
i
.
e
.
,
myelogenous
porphyrias
include
erythropoietic
protoporphyria
and
the
very
rare
congenital
protoporphyria
and
X-
linked
protoporphyria
.
Of
these
,
in
Finland
only
erythropoietic
protoporphyria
has
been
diagnosed
,
in
which
pain
and
swelling
in
the
skin
upon
sunlight
exposure
are
the
most
typical
symptoms
.
A
high
protoporphyrin
level
in
erythrocytes
and
a
typical
peak
in
the
plasma
porphyrin
spectrum
lead
to
diagnosis
.
Diseases
Validation
Diseases presenting
"pain"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
aniridia
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
neuralgic amyotrophy
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
scrub typhus
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
trochlear dysplasia
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wolf-hirschhorn syndrome
This symptom has already been validated