DOID:0060891
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Parkinson's disease 19A
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Aliases:
-
juvenile onset Parkinson disease 19A
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juvenile onset Parkinson's disease 19A
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Homo sapiens (human)
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DOID:11725
|
-
Cornelia de Lange syndrome
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Aliases:
-
Brachmann de Lange syndrome
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De Lange syndrome
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|
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Homo sapiens (human)
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DOID:0110644
|
-
long QT syndrome 1
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Aliases:
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LQT1
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ventricular fibrillation with prolonged QT interval
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|
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Homo sapiens (human)
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DOID:0050787
|
-
juvenile polyposis syndrome
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Homo sapiens (human)
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DOID:0080240
|
-
non-syndromic X-linked intellectual disability 106
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Aliases:
-
MRX106
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X-linked mental retardation 106
|
|
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Homo sapiens (human)
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|
DOID:0080693
|
-
Noonan syndrome-like disorder with loose anagen hair 2
|
|
|
Homo sapiens (human)
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|
DOID:2219
|
-
Glanzmann's thrombasthenia
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Aliases:
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BDPLT2
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Glanzmann thrombasthenia
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Glycoprotein IIb/IIIa defect
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Thrombocytasthenia
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deficiency of GP IIb-IIIa complex
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deficiency of glycoprotein complex IIb-IIIa
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deficiency of platelet fibrinogen receptor
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platelet glycoprotein IIb-IIIa deficiency
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platelet-type bleeding disorder 2
-
thrombasthenia of Glanzmann and Naegeli
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|
|
Homo sapiens (human)
|
|
DOID:0111822
|
-
CHILD syndrome
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Aliases:
-
CHILD nevus
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congenital hemidysplasia with ichthyosiform nevus and limbs defects
|
|
|
Homo sapiens (human)
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|
DOID:0060810
|
-
syndromic X-linked intellectual disability type 10
-
Aliases:
-
HSD10 deficiency, atypical type
-
HSD10 disease, atypical type
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MRXS10
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X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
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mental retardation, X-linked syndromic 10
|
|
|
Homo sapiens (human)
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|
DOID:0111195
|
-
erythrokeratodermia variabilis et progressiva 1
|
|
|
Homo sapiens (human)
|
|
DOID:10273
|
-
heart conduction disease
-
Aliases:
|
|
|
Homo sapiens (human)
|
|
DOID:0060192
|
|
|
|
Homo sapiens (human)
|
|
DOID:8353
|
-
epithelioid malignant peripheral nerve sheath tumor
-
Aliases:
-
epithelioid MPNST
-
malignant epithelioid neoplasm of the peripheral nerve Sheath
|
|
|
Homo sapiens (human)
|
|
DOID:0110775
|
-
hereditary spastic paraplegia 24
-
Aliases:
-
SPG24
-
autosomal recessive spastic paraplegia 24
-
autosomal recessive spastic paraplegia type 24
|
|
|
Homo sapiens (human)
|
|
DOID:0060613
|
-
X-linked cleft palate with or without ankyloglossia
-
Aliases:
-
X-linked cleft palate and ankyloglossia
|
|
|
Homo sapiens (human)
|
|
DOID:0081312
|
-
T-cell non-Hodgkin lymphoma
|
|
|
Homo sapiens (human)
|
|
DOID:14064
|
-
acute poststreptococcal glomerulonephritis
-
Aliases:
-
Post-Streptococcal Glomerulonephritis
|
|
|
Homo sapiens (human)
|
|
DOID:0050534
|
-
congenital stationary night blindness
-
Aliases:
-
congenital essential nyctalopia
|
|
|
Homo sapiens (human)
|
|
DOID:0110473
|
-
autosomal recessive nonsyndromic deafness 18A
-
Aliases:
-
DFNB18A
-
autosomal recessive deafness 18A
|
|
|
Homo sapiens (human)
|
|
DOID:0110849
|
-
xeroderma pigmentosum group G
-
Aliases:
-
XP group G
-
XP7
-
XPG
-
xeroderma pigmentosum VII
|
|
|
Homo sapiens (human)
|
|
DOID:3321
|
-
GM2 gangliosidosis
-
Aliases:
|
|
|
Homo sapiens (human)
|
|
DOID:0060318
|
-
acute promyelocytic leukemia
-
Aliases:
-
acute myeloblastic leukaemia type 3
-
acute myeloblastic leukemia type 3
-
acute myeloid leukaemia M3
-
acute myeloid leukemia M3
-
acute promyelocytic leukaemia
|
|
|
Homo sapiens (human)
|
|
DOID:0080362
|
-
X-linked spondyloepiphyseal dysplasia tarda
|
|
|
Homo sapiens (human)
|
|
DOID:8488
|
|
|
|
Homo sapiens (human)
|
|
DOID:0050211
|
|
|
|
Homo sapiens (human)
|
|