DOID:0060737
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junctional epidermolysis bullosa Herlitz type
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Aliases:
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Herlitz type epidermolysis bullosa junctionalis
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Herlitz-Pearson-type epidermolysis bullosa
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JEB-H
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JEB-Herlitz type
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epidermolysis bullosa letalis
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junctional epidermolysis bullosa generalisata gravis
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junctional epidermolysis bullosa, Herlitz-Pearson type
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Homo sapiens (human)
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DOID:0050745
|
-
diffuse large B-cell lymphoma
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Aliases:
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|
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Homo sapiens (human)
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DOID:8567
|
-
Hodgkin's lymphoma
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Aliases:
-
HL
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Hodgkin disease
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Hodgkin lymphoma
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Hodgkin's sarcoma
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Hodgkins lymphoma
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stage I Subdiaphragmatic Hodgkin Lymphoma
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stage II Subdiaphragmatic Hodgkin Lymphoma
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Homo sapiens (human)
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DOID:0070145
|
-
hereditary sensory and autonomic neuropathy type 5
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Aliases:
-
HSAN5
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hereditary sensory and autonomic neuropathy type V
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Homo sapiens (human)
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DOID:11724
|
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limb-girdle muscular dystrophy
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Aliases:
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Erb's muscular dystrophy
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Leyden-Mbius muscular dystrophy
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limb girdle muscular dystrophy
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|
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Homo sapiens (human)
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DOID:9883
|
-
Becker muscular dystrophy
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Aliases:
-
Benign pseudohypertrophic muscular dystrophy
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benign congenital myopathy
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|
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Homo sapiens (human)
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|
DOID:0110070
|
-
arrhythmogenic right ventricular dysplasia 1
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Aliases:
-
ARVC1
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Uhl anomaly
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arrhythmogenic right ventricular cardiomyopathy 1
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|
|
Homo sapiens (human)
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|
DOID:12117
|
-
pulmonary alveolar microlithiasis
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|
|
Homo sapiens (human)
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|
DOID:0080857
|
-
primary ovarian insufficiency 1
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Aliases:
-
FMR1-related primary ovarian insufficiency
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Fragile X-associated primary ovarian insufficiency
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premature ovarian failure 1
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|
|
Homo sapiens (human)
|
|
DOID:3798
|
-
pleural empyema
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Aliases:
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Empyema of pleura
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Empyema of pleura without fistula
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Empyema with no fistula
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Empyema with pleural fistula
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Empyema without mention of fistula
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Empyema, chest
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Pleural empyema with fistula
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Purulent pleurisy
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Thorax abscess
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abscess of pleural cavity
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abscess of thorax
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empyema
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empyema with fistula
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lung empyema
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pleural empyema with no fistula
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purulent pleuritis
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pyothorax
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|
|
Homo sapiens (human)
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|
DOID:0081359
|
-
epidermolytic hyperkeratosis 2
|
|
|
Homo sapiens (human)
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|
DOID:0050759
|
-
myotonic dystrophy type 2
|
|
|
Homo sapiens (human)
|
|
DOID:824
|
|
|
|
Homo sapiens (human)
|
|
DOID:0111982
|
-
immunodeficiency 56
-
Aliases:
-
IL21R immunodeficiency
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IMD56
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combined immunodeficiency due to IL21R deficiency
|
|
|
Homo sapiens (human)
|
|
DOID:0080498
|
|
|
|
Homo sapiens (human)
|
|
DOID:0060733
|
-
junctional epidermolysis bullosa with pyloric atresia
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Aliases:
-
Carmi syndrome
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JEB-PA
-
epidermolysis bullosa junctionalis with pyloric atresia
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junctional epidermolysis bullosa-pyloric atresia syndrome
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|
|
Homo sapiens (human)
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|
DOID:0112038
|
-
non-syndromic X-linked intellectual disability 1
-
Aliases:
-
MRX1
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MRX18
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MRX78
-
X-linked mental retardation 1
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X-linked mental retardation 1/78
-
X-linked mental retardation 18
-
X-linked mental retardation 78
|
|
|
Homo sapiens (human)
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|
DOID:0111996
|
-
immunodeficiency 51
-
Aliases:
-
CANDF5
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IMD51
-
familial candidiasis 5
|
|
|
Homo sapiens (human)
|
|
DOID:0060536
|
-
mitochondrial complex I deficiency
-
Aliases:
-
isolated NADH-CoQ reductase deficiency
-
isolated NADH-coenzyme Q reductase deficiency
-
isolated NADH-ubiquinone reductase deficiency
-
isolated mitochondrial respiratory chain complex I deficiency
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|
|
Homo sapiens (human)
|
|
DOID:0110626
|
-
primary ciliary dyskinesia 2
-
Aliases:
-
CILD2
-
primary ciliary dyskinesia 2 with or without situs inversus
|
|
|
Homo sapiens (human)
|
|
DOID:5733
|
|
|
|
Homo sapiens (human)
|
|
DOID:9970
|
|
|
|
Homo sapiens (human)
|
|
DOID:11165
|
|
|
|
Homo sapiens (human)
|
|
DOID:0110014
|
-
age related macular degeneration 1
-
Aliases:
-
ARMD1
-
age related maculopathy 1
|
|
|
Homo sapiens (human)
|
|
DOID:0050012
|
|
|
|
Homo sapiens (human)
|
|