DOID:539
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ophthalmoplegia
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Aliases:
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Total ophthalmoplegia
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extraocular muscle paralysis
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eye movement paralysis
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oculomotor paralysis
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|
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Homo sapiens (human)
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DOID:12270
|
-
coloboma
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Aliases:
-
coloboma of eye
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coloboma of macula
-
congenital ocular coloboma
|
|
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Homo sapiens (human)
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|
DOID:5723
|
|
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|
Homo sapiens (human)
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|
DOID:10907
|
-
microcephaly
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Aliases:
-
Microcephalus
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microencephaly
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|
|
Homo sapiens (human)
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|
DOID:0111238
|
-
congenital muscular dystrophy-dystroglycanopathy type A13
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Aliases:
-
MDDGA13
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Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related
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Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13
|
|
|
Danio rerio (zebrafish)
|
|
DOID:0070342
|
-
adult-onset type II citrullinemia
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Aliases:
|
|
|
Homo sapiens (human)
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|
DOID:0070341
|
-
neonatal-onset type II citrullinemia
-
Aliases:
-
neonatal-onset type 2 citrullinemia
|
|
|
Homo sapiens (human)
|
|
DOID:4137
|
|
|
|
Homo sapiens (human)
|
|
DOID:9273
|
-
citrullinemia
-
Aliases:
-
ASS deficiency
-
deficiency of citrulline-aspartate ligase
|
|
|
Homo sapiens (human)
|
|
DOID:1852
|
-
intrahepatic cholestasis
-
Aliases:
-
neonatal intrahepatic cholestasis
|
|
|
Homo sapiens (human)
|
|
DOID:3029
|
-
colon mucinous adenocarcinoma
-
Aliases:
-
Colonic mucinous adenocarcinoma
|
|
|
Homo sapiens (human)
|
|
DOID:10923
|
-
sickle cell anemia
-
Aliases:
-
Hb SC disease
-
Hb-S/Hb-C disease
-
Hb-SS disease without crisis
-
Hemoglobin S disease without crisis
-
Sickle-cell/Hb-C disease without crisis
-
drepanocytosis
-
haemoglobin SC disease
-
hemoglobin SC disease
-
sickle cell anaemia
|
|
|
Homo sapiens (human)
|
|
DOID:12241
|
|
|
|
Homo sapiens (human)
|
|
DOID:10241
|
-
thalassemia
-
Aliases:
-
Sickle-cell thalassemia with crisis
-
Sickle-cell thalassemia without crisis
-
thalassemia Hb-S disease with crisis
-
thalassemia Hb-S disease without crisis
|
|
|
Homo sapiens (human)
|
|
DOID:0112105
|
-
X-linked parkinsonism-spasticity syndrome
-
Aliases:
-
X-linked Parkinsonism with spasticity
-
XPDS
|
|
|
Homo sapiens (human)
|
|
DOID:0050678
|
-
Blau syndrome
-
Aliases:
-
ARTHROCUTANEOUVEAL GRANULOMATOSIS
-
BLAUS
-
Jabs syndrome
|
|
|
Homo sapiens (human)
|
|
DOID:0060806
|
-
syndromic X-linked intellectual disability Hedera type
-
Aliases:
-
MRXE
-
MRXSH
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X-linked mental retardation with epilepsy
-
mental retardation, X-linked, syndromic, Hedera type
|
|
|
Homo sapiens (human)
|
|
DOID:0060309
|
-
syndromic X-linked intellectual disability
-
Aliases:
-
syndromic X-linked mental retardation
|
|
|
Homo sapiens (human)
|
|
DOID:12385
|
-
shigellosis
-
Aliases:
-
Shigella boydii infectious disease
-
Shigella flexneri infectious disease
-
Shigella gastroenteritis
-
Shigella sonnei infectious disease
-
bacillary dysentery
|
|
|
Homo sapiens (human)
|
|
DOID:0060135
|
|
|
|
Homo sapiens (human)
|
|
DOID:12387
|
-
nephrogenic diabetes insipidus
|
|
|
Homo sapiens (human)
|
|
DOID:2942
|
|
|
|
Homo sapiens (human)
|
|
DOID:2411
|
-
granular cell tumor
-
Aliases:
-
neoplasm of granular cell
|
|
|
Homo sapiens (human)
|
|
DOID:4028
|
-
angioma serpiginosum
-
Aliases:
-
Angioma serpiginosum of skin
|
|
|
Homo sapiens (human)
|
|
DOID:0080205
|
-
CAKUT
-
Aliases:
-
Congenital anomalies of the kidney and urinary tract
-
Renal or urinary tract malformation
|
|
|
Homo sapiens (human)
|
|