DOID:0111042
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glycogen storage disease IXa
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Aliases:
-
GSD type 9A
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GSD type IXa
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GSD9A
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glycogen storage disease type 9A
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glycogen storage disease type IXa
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glycogenosis type 9A
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glycogenosis type IXa
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Mus musculus (house mouse)
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DOID:0111042
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glycogen storage disease IXa
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Aliases:
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GSD type 9A
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GSD type IXa
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GSD9A
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glycogen storage disease type 9A
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glycogen storage disease type IXa
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glycogenosis type 9A
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glycogenosis type IXa
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Caenorhabditis elegans
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DOID:0111041
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glycogen storage disease IXb
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Aliases:
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GSD IXb
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GSD due to liver and muscle phosphorylase kinase deficiency
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GSD type 9B
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GSD type IXb
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GSD9B
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glycogen storage disease type 9B
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glycogen storage disease type IXb
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glycogenosis due to liver and muscle phosphorylase kinase deficiency
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glycogenosis type 9B
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glycogenosis type IXb
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Homo sapiens (human)
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DOID:0111041
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glycogen storage disease IXb
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Aliases:
-
GSD IXb
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GSD due to liver and muscle phosphorylase kinase deficiency
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GSD type 9B
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GSD type IXb
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GSD9B
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glycogen storage disease type 9B
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glycogen storage disease type IXb
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glycogenosis due to liver and muscle phosphorylase kinase deficiency
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glycogenosis type 9B
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glycogenosis type IXb
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Mus musculus (house mouse)
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DOID:0111040
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glycogen storage disease IXd
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Aliases:
-
GSD IXd
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GSD due to muscle phosphorylase kinase deficiency
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GSD type 9D
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GSD type 9E
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GSD type IXd
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GSD type IXe
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GSD9D
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X-linked muscke glycogenosis
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glycogen storage disease due to muscle phosphorylase kinase deficiency
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glycogen storage disease type 9D
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glycogen storage disease type 9E
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glycogen storage disease type IXd
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glycogen storage disease type IXe
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glycogenosis due to muscle phosphorylase kinase deficiency
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glycogenosis type 9D
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glycogenosis type 9E
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glycogenosis type IXd
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glycogenosis type IXe
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muscle phosphorylase kinase deficiency
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Homo sapiens (human)
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DOID:0111040
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glycogen storage disease IXd
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Aliases:
-
GSD IXd
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GSD due to muscle phosphorylase kinase deficiency
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GSD type 9D
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GSD type 9E
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GSD type IXd
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GSD type IXe
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GSD9D
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X-linked muscke glycogenosis
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glycogen storage disease due to muscle phosphorylase kinase deficiency
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glycogen storage disease type 9D
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glycogen storage disease type 9E
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glycogen storage disease type IXd
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glycogen storage disease type IXe
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glycogenosis due to muscle phosphorylase kinase deficiency
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glycogenosis type 9D
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glycogenosis type 9E
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glycogenosis type IXd
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glycogenosis type IXe
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muscle phosphorylase kinase deficiency
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Caenorhabditis elegans
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DOID:0111040
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glycogen storage disease IXd
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Aliases:
-
GSD IXd
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GSD due to muscle phosphorylase kinase deficiency
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GSD type 9D
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GSD type 9E
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GSD type IXd
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GSD type IXe
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GSD9D
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X-linked muscke glycogenosis
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glycogen storage disease due to muscle phosphorylase kinase deficiency
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glycogen storage disease type 9D
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glycogen storage disease type 9E
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glycogen storage disease type IXd
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glycogen storage disease type IXe
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glycogenosis due to muscle phosphorylase kinase deficiency
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glycogenosis type 9D
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glycogenosis type 9E
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glycogenosis type IXd
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glycogenosis type IXe
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muscle phosphorylase kinase deficiency
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Drosophila melanogaster (fruit fly)
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DOID:0111040
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glycogen storage disease IXd
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Aliases:
-
GSD IXd
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GSD due to muscle phosphorylase kinase deficiency
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GSD type 9D
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GSD type 9E
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GSD type IXd
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GSD type IXe
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GSD9D
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X-linked muscke glycogenosis
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glycogen storage disease due to muscle phosphorylase kinase deficiency
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glycogen storage disease type 9D
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glycogen storage disease type 9E
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glycogen storage disease type IXd
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glycogen storage disease type IXe
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glycogenosis due to muscle phosphorylase kinase deficiency
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glycogenosis type 9D
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glycogenosis type 9E
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glycogenosis type IXd
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glycogenosis type IXe
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muscle phosphorylase kinase deficiency
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Mus musculus (house mouse)
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DOID:0111037
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glycine N-methyltransferase deficiency
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Aliases:
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GNMT deficiency
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hypermethioninemia due to GNMT deficiency
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hypermethioninemia due to glycine N-methyltransferase deficiency
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Homo sapiens (human)
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DOID:0111037
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glycine N-methyltransferase deficiency
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Aliases:
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GNMT deficiency
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hypermethioninemia due to GNMT deficiency
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hypermethioninemia due to glycine N-methyltransferase deficiency
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Rattus norvegicus (Norway rat)
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DOID:0111037
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glycine N-methyltransferase deficiency
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Aliases:
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GNMT deficiency
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hypermethioninemia due to GNMT deficiency
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hypermethioninemia due to glycine N-methyltransferase deficiency
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Mus musculus (house mouse)
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DOID:0111035
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CADASIL 1
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Aliases:
-
autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1
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Drosophila melanogaster (fruit fly)
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DOID:0111035
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CADASIL 1
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Aliases:
-
autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1
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Homo sapiens (human)
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DOID:0111034
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hemochromatosis type 2
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Aliases:
-
HFE2
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JHH
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juvenile hemochromatosis
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Homo sapiens (human)
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DOID:0111029
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hemochromatosis type 1
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Aliases:
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HFE1
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symptomatic form of HFE-related hereditary hemochromatosis
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symptomatic form of classic hemochromatosis
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symptomatic form of hemochromatosis type 1
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Homo sapiens (human)
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DOID:0111027
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hemochromatosis type 2A
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Aliases:
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Homo sapiens (human)
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DOID:0111012
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cone-rod dystrophy 7
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Aliases:
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Homo sapiens (human)
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DOID:0111008
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X-linked cone-rod dystrophy 1
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Aliases:
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COD1
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CORDX1
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X-linked cone dystrophy 1
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Homo sapiens (human)
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DOID:0111005
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cone-rod dystrophy 2
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Aliases:
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CORD2
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CRD2
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RCRD2
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cone-rod retinal dystrophy 2
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retinal cone-rod dystrophy 2
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Homo sapiens (human)
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DOID:0110980
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Joubert syndrome 1
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Aliases:
-
CORS1
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CPD4
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JBTS1
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cerebellooculorenal syndrome 1
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cerebelloparenchymal disorder IV
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|
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Homo sapiens (human)
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DOID:0110980
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Joubert syndrome 1
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Aliases:
-
CORS1
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CPD4
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JBTS1
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cerebellooculorenal syndrome 1
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cerebelloparenchymal disorder IV
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|
|
Drosophila melanogaster (fruit fly)
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DOID:0110970
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brachydactyly type C
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Aliases:
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Homo sapiens (human)
|
DOID:0110969
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brachydactyly type B1
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Aliases:
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Homo sapiens (human)
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DOID:0110961
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atypical Gaucher's disease due to saposin c deficiency
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Homo sapiens (human)
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DOID:0110960
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Gaucher's disease perinatal lethal
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Aliases:
-
Fetal Gaucher Disease
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Gaucher Disease, Collodion Type
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Mus musculus (house mouse)
|