DOID:0050678
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Blau syndrome
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Aliases:
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ARTHROCUTANEOUVEAL GRANULOMATOSIS
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BLAUS
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Jabs syndrome
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Homo sapiens (human)
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DOID:0060309
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syndromic X-linked intellectual disability
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Aliases:
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syndromic X-linked mental retardation
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Homo sapiens (human)
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DOID:0060806
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syndromic X-linked intellectual disability Hedera type
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Aliases:
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MRXE
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MRXSH
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X-linked mental retardation with epilepsy
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mental retardation, X-linked, syndromic, Hedera type
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Homo sapiens (human)
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DOID:10241
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thalassemia
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Aliases:
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Sickle-cell thalassemia with crisis
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Sickle-cell thalassemia without crisis
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thalassemia Hb-S disease with crisis
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thalassemia Hb-S disease without crisis
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Homo sapiens (human)
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DOID:12241
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|
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Homo sapiens (human)
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DOID:10923
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sickle cell anemia
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Aliases:
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Hb SC disease
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Hb-S/Hb-C disease
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Hb-SS disease without crisis
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Hemoglobin S disease without crisis
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Sickle-cell/Hb-C disease without crisis
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drepanocytosis
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haemoglobin SC disease
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hemoglobin SC disease
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sickle cell anaemia
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Homo sapiens (human)
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DOID:3029
|
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colon mucinous adenocarcinoma
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Aliases:
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Colonic mucinous adenocarcinoma
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Homo sapiens (human)
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DOID:1852
|
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intrahepatic cholestasis
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Aliases:
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neonatal intrahepatic cholestasis
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Homo sapiens (human)
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DOID:9273
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citrullinemia
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Aliases:
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ASS deficiency
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deficiency of citrulline-aspartate ligase
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Homo sapiens (human)
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DOID:4137
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Homo sapiens (human)
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DOID:0070341
|
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neonatal-onset type II citrullinemia
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Aliases:
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neonatal-onset type 2 citrullinemia
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Homo sapiens (human)
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DOID:0070342
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adult-onset type II citrullinemia
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Aliases:
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Homo sapiens (human)
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DOID:0111238
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congenital muscular dystrophy-dystroglycanopathy type A13
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Aliases:
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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
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Danio rerio (zebrafish)
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DOID:10907
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microcephaly
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Aliases:
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Microcephalus
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microencephaly
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|
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Homo sapiens (human)
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DOID:5723
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|
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Homo sapiens (human)
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DOID:12270
|
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coloboma
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Aliases:
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coloboma of eye
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coloboma of macula
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congenital ocular coloboma
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|
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Homo sapiens (human)
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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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Homo sapiens (human)
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DOID:540
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|
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Homo sapiens (human)
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DOID:9306
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|
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Homo sapiens (human)
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DOID:9837
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|
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Homo sapiens (human)
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DOID:0050570
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congenital disorder of glycosylation type I
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Homo sapiens (human)
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DOID:11949
|
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Creutzfeldt-Jakob disease
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Aliases:
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CJD
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Creutzfeldt Jacob syndrome
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Creutzfeldt Jakob disease
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Creutzfeldt-Jacob disease
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Jakob-Creutzfeldt disease
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Subacute spongiform encephalopathy
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Transmissible virus dementia
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Homo sapiens (human)
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DOID:2876
|
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laryngeal squamous cell carcinoma
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Aliases:
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Epidermoid carcinoma of the Larynx
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squamous cell carcinoma of larynx
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|
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Homo sapiens (human)
|
DOID:2481
|
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obsolete infantile epileptic encephalopathy
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Homo sapiens (human)
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DOID:0080470
|
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developmental and epileptic encephalopathy 36
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Aliases:
-
congenital disorder of glycosylation, type Is
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early infantile epileptic encephalopathy 36
|
|
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Homo sapiens (human)
|