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<title>21308977 Visualization</title>
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<h1>21308977 Visualization</h1>
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<div class="entities" style="line-height: 2.5; direction: ltr">The patient was a
<mark class="entity" style="background: #f6c3d0; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
3
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Age</span>
</mark>
-
<mark class="entity" style="background: #f6c3d0; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
year
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Age</span>
</mark>
-
<mark class="entity" style="background: #f6c3d0; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
old
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Age</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
girl
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Sex</span>
</mark>
with the following features of
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
VACTERL
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
association
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
:
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
absent
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
C1
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
vertebra
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
,
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
supernumerary
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
lumbar
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
vertebrae
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
,
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
hypoplastic
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
sacrum
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
/
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
coccyx
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
,
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
fatty
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
filum
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
terminale
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
with
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
tethered
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
spinal
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
cord
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
, and
<mark class="entity" style="background: #f4b3c2; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
three
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Lab_value</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
fused
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
ribs
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
; an
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
anorectal
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
malformation
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
including a
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
cloaca
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
consisting of a
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
common
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
urogenital
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
sinus
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
and a
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
duplex
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
vagina
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
with
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
midline
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
septum
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
;
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
type
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
C
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
TE
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
fistula
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
;
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
right
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
renal
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
agenesis
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
with
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
moderate
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Severity</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
left
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
hydronephrosis
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
and
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
vesicoureteral
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
reflux
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
.</br>She had no
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
cardiac
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
or
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
limb
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
malformations
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
, and no
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
other
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
major
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
organ
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
anomalies
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
.</br>Both
<mark class="entity" style="background: #d5f5e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
she
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Other_entity</span>
</mark>
and
<mark class="entity" style="background: #b9e8d8; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
her
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Subject</span>
</mark>
<mark class="entity" style="background: #b9e8d8; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
father
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Subject</span>
</mark>
were additionally clinically diagnosed with
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
hypermobile
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
type
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Ehlers
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
–
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Danlos
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
syndrome
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
, but family history was otherwise noncontributory.</br>The diagnosis of
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
hypermobile
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
type
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Ehlers
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
–
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Danlos
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
was based on the patient’s
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
hypermobility
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
(
<mark class="entity" style="background: #f4b3c2; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
9/9
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Lab_value</span>
</mark>
on the
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Beighton
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
hypermobility
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
scale
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
),
<mark class="entity" style="background: #f4b3c2; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
very
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Lab_value</span>
</mark>
<mark class="entity" style="background: #ffdfba; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
soft
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Texture</span>
</mark>
,
<mark class="entity" style="background: #ffdfba; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
fragile
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Texture</span>
</mark>
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
skin
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
with
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
unusual
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
scarring
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
, and
<mark class="entity" style="background: #f4b3c2; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
poor
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Lab_value</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
skin
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
healing
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
.</br>
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Skin
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
biopsy
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
was not performed, but
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
testing
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
on
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
peripheral
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
blood
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
did not reveal
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
mutations
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
associated with
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
other
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
forms
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
of
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Ehlers
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
–
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Danlos
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
syndrome
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
.</br>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Microarray
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
analysis
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
initially showed a
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
maternally
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
-
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
inherited
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
deletion
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
at
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
4q35.1
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
detected with
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
one
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
clone
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
and confirmed by
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
FISH
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
(RP11
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
-
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
173M11)
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
.</br>Subsequent performance of an
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
180K
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
custom
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
oligonucleotide
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
microarray
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
(
<mark class="entity" style="background: #f7a399; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Baylor
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Nonbiological_location</span>
</mark>
<mark class="entity" style="background: #f7a399; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
College
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Nonbiological_location</span>
</mark>
<mark class="entity" style="background: #f7a399; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
of
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Nonbiological_location</span>
</mark>
<mark class="entity" style="background: #f7a399; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Medicine
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Nonbiological_location</span>
</mark>
<mark class="entity" style="background: #f7a399; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Medical
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Nonbiological_location</span>
</mark>
<mark class="entity" style="background: #f7a399; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Genetics
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Nonbiological_location</span>
</mark>
<mark class="entity" style="background: #f7a399; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Laboratories
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Nonbiological_location</span>
</mark>
) refined the
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
deleted
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
region
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
deletion
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
to a
<mark class="entity" style="background: #f4b3c2; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
maximum
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Lab_value</span>
</mark>
<mark class="entity" style="background: #f4b3c2; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
size
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Lab_value</span>
</mark>
<mark class="entity" style="background: #f4b3c2; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
of
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Lab_value</span>
</mark>
<mark class="entity" style="background: #f4b3c2; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
1.37
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Lab_value</span>
</mark>
<mark class="entity" style="background: #f4b3c2; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Mb
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Lab_value</span>
</mark>
, with
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
karyotype
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
revised to
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
46,XX,arr
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
cgh
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
4q35.1q35.2
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
(187,321
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
-
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
768
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
-
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
188,694
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
-
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
589)
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
3
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
1
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
.</br>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Genes
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
in the
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
deleted
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
region
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
, which contains a number of much smaller copy number variations (CNVs) identified in normal controls, include
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
CYP4V2
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
,
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
KLKB2
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
,
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
F11
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
,
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
MTRNR1A
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
, and
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
FAT1
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
, none of which can be clearly related to her phenotype, especially as
<mark class="entity" style="background: #b9e8d8; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
her
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Subject</span>
</mark>
<mark class="entity" style="background: #b9e8d8; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
mother
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Subject</span>
</mark>
,
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
from
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
whom
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
the
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
deletion
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
was
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
inherited
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
, is
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
unaffected
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
.</br>Evidence for
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
mitochondrial
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
dysfunction
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
began at
<mark class="entity" style="background: #f6c3d0; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
13
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Age</span>
</mark>
<mark class="entity" style="background: #f6c3d0; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
months
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Age</span>
</mark>
<mark class="entity" style="background: #f6c3d0; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
of
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Age</span>
</mark>
<mark class="entity" style="background: #f6c3d0; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
age
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Age</span>
</mark>
with
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
progressive
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #bde0fe; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
muscle
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Sign_symptom</span>
</mark>
<mark class="entity" style="background: #bde0fe; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
weakness
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Sign_symptom</span>
</mark>
,
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
autonomic
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
dysregulation
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
,
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
hypoglycemic
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
episodes
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
,
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
exocrine
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
pancreatic
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
dysfunction
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
, and
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
decline
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
of
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
gastrointestinal
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
function
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
, eventually leading to
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
total
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Severity</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
parenteral
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
nutrition
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
dependency
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
due to
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
visceral
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
hyperalgesia
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
,
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
dysmotility
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
, and
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
malabsorption
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
.</br>
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Muscle
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
biopsy
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
showed a
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
mild
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Severity</span>
</mark>
<mark class="entity" style="background: #f4b3c2; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
increase
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Lab_value</span>
</mark>
in
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
fiber
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
size
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
variability
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
but no
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
other
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
findings
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
consistent
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
with
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
mitochondrial
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
disease
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
, including via
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
electron
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
microscopy
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
.</br>However, analysis of
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
electron
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
transport
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
chain
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
(ETC)
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
activity
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
showed
<mark class="entity" style="background: #f4b3c2; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
normal
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Lab_value</span>
</mark>
activity of
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
complexes
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
I
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
,
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
II
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
, and
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
III
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
, but
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
complex
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
IV
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
, or
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
cytochrome
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
c
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
oxidase
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
, activity was
<mark class="entity" style="background: #f4b3c2; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
45.4
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Lab_value</span>
</mark>
<mark class="entity" style="background: #f4b3c2; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
lmol/min/g
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Lab_value</span>
</mark>
<mark class="entity" style="background: #f4b3c2; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
weight
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Lab_value</span>
</mark>
,
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
well
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
below
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
the
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
control
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
range
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
(148.9 +/− 67.2 lmol/min/g weight).</br>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Repeat
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
ETC
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
analysis
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
in
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
isolated
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
mitochondria
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
confirmed a
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
profound
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Severity</span>
</mark>
and
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
reproducible
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
complex
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
IV
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
<mark class="entity" style="background: #c4b7ea; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
deficiency
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Disease_disorder</span>
</mark>
.</br>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Citrate
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
synthase
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
activity
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
and
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
content
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
in
<mark class="entity" style="background: #e3b5a4; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
both
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Coreference</span>
</mark>
<mark class="entity" style="background: #e3b5a4; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
ETC
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Coreference</span>
</mark>
<mark class="entity" style="background: #e3b5a4; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
analyses
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Coreference</span>
</mark>
were
<mark class="entity" style="background: #f4b3c2; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
normal
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Lab_value</span>
</mark>
, confirming
<mark class="entity" style="background: #f4b3c2; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
good
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Lab_value</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
sample
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
quality
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
and
<mark class="entity" style="background: #f4b3c2; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
normal
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Lab_value</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
mitochondrial
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
content
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
.</br>
<mark class="entity" style="background: #ffb347; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Whole
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Detailed_description</span>
</mark>
<mark class="entity" style="background: #9ddfd3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
mitochondrial
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Biological_structure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
genome
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
sequencing
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
, and
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
sequencing
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
of
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
DNA
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Polymerase
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Gamma
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
1
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
and
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
2
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
(
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
POLG1
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
and
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
POLG2
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
) and
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Thymidine
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
<mark class="entity" style="background: #c5b4e3; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;">
Phosphorylase
<span style="font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-align: middle; margin-left: 0.5rem">Diagnostic_procedure</span>
</mark>
did not reveal abnormalities.</br></div>
</body>
</html>
