DOID:0110960
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Gaucher's disease perinatal lethal
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Aliases:
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Fetal Gaucher Disease
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Gaucher Disease, Collodion Type
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Mus musculus (house mouse)
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DOID:0110980
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Joubert syndrome 1
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Aliases:
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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:0111035
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CADASIL 1
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Aliases:
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autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1
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Drosophila melanogaster (fruit fly)
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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:0111040
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glycogen storage disease IXd
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Aliases:
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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:0111040
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glycogen storage disease IXd
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Aliases:
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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:
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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: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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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: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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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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Drosophila melanogaster (fruit fly)
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DOID:0111043
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glycogen storage disease IXc
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Aliases:
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GSD type 9C
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GSD type IXc
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GSD9C
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glycogen storage disease type 9C
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glycogen storage disease type IXc
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glycogenosis type 9C
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glycogenosis type IXc
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Rattus norvegicus (Norway rat)
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DOID:0111043
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glycogen storage disease IXc
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Aliases:
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GSD type 9C
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GSD type IXc
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GSD9C
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glycogen storage disease type 9C
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glycogen storage disease type IXc
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glycogenosis type 9C
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glycogenosis type IXc
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Mus musculus (house mouse)
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DOID:0111061
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familial hypobetalipoproteinemia 2
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Aliases:
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FHBL2
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combined familial hypolipidemia
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Mus musculus (house mouse)
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DOID:0111061
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familial hypobetalipoproteinemia 2
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Aliases:
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FHBL2
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combined familial hypolipidemia
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Homo sapiens (human)
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DOID:0111063
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hyperphosphatemic familial tumoral calcinosis
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Aliases:
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HFTC
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HHS
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PHPTC
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cortical hyperostosis with hyperphosphatemia
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familial Teutschlaender disease
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familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
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hypercalcemic tumoral calcinosis
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hyperostosis with hyperphosphatemia
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hyperphosphatemia hyperostosis
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hyperphosphatemia hyperostosis syndrome
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hyperphosphatemia tumoral calcinosis
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lipocalcinogranulomatosis
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morbus Teutschlaender
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primary hyperphosphatemic tumoral calcinosis
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tumoral calcinosis with hyperphosphatemia
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Drosophila melanogaster (fruit fly)
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DOID:0111063
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hyperphosphatemic familial tumoral calcinosis
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Aliases:
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HFTC
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HHS
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PHPTC
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cortical hyperostosis with hyperphosphatemia
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familial Teutschlaender disease
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familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
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hypercalcemic tumoral calcinosis
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hyperostosis with hyperphosphatemia
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hyperphosphatemia hyperostosis
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hyperphosphatemia hyperostosis syndrome
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hyperphosphatemia tumoral calcinosis
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lipocalcinogranulomatosis
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morbus Teutschlaender
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primary hyperphosphatemic tumoral calcinosis
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tumoral calcinosis with hyperphosphatemia
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Xenopus tropicalis (tropical clawed frog)
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DOID:0111063
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hyperphosphatemic familial tumoral calcinosis
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Aliases:
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HFTC
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HHS
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PHPTC
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cortical hyperostosis with hyperphosphatemia
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familial Teutschlaender disease
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familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
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hypercalcemic tumoral calcinosis
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hyperostosis with hyperphosphatemia
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hyperphosphatemia hyperostosis
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hyperphosphatemia hyperostosis syndrome
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hyperphosphatemia tumoral calcinosis
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lipocalcinogranulomatosis
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morbus Teutschlaender
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primary hyperphosphatemic tumoral calcinosis
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tumoral calcinosis with hyperphosphatemia
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Mus musculus (house mouse)
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DOID:0111063
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hyperphosphatemic familial tumoral calcinosis
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Aliases:
-
HFTC
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HHS
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PHPTC
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cortical hyperostosis with hyperphosphatemia
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familial Teutschlaender disease
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familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
-
hypercalcemic tumoral calcinosis
-
hyperostosis with hyperphosphatemia
-
hyperphosphatemia hyperostosis
-
hyperphosphatemia hyperostosis syndrome
-
hyperphosphatemia tumoral calcinosis
-
lipocalcinogranulomatosis
-
morbus Teutschlaender
-
primary hyperphosphatemic tumoral calcinosis
-
tumoral calcinosis with hyperphosphatemia
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Rattus norvegicus (Norway rat)
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DOID:0111063
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hyperphosphatemic familial tumoral calcinosis
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Aliases:
-
HFTC
-
HHS
-
PHPTC
-
cortical hyperostosis with hyperphosphatemia
-
familial Teutschlaender disease
-
familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
-
hypercalcemic tumoral calcinosis
-
hyperostosis with hyperphosphatemia
-
hyperphosphatemia hyperostosis
-
hyperphosphatemia hyperostosis syndrome
-
hyperphosphatemia tumoral calcinosis
-
lipocalcinogranulomatosis
-
morbus Teutschlaender
-
primary hyperphosphatemic tumoral calcinosis
-
tumoral calcinosis with hyperphosphatemia
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Danio rerio (zebrafish)
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DOID:0111069
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congenital bile acid synthesis defect 2
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Aliases:
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CBAS2
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cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
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Saccharomyces cerevisiae S288C
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DOID:0111077
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pyruvate kinase deficiency of red cells
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Aliases:
-
PK deficiency
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hemolytic anemia due to red cell pyruvate kinase deficiency
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pyruvate kinase deficiency of erythrocyte
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Rattus norvegicus (Norway rat)
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DOID:0111077
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pyruvate kinase deficiency of red cells
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Aliases:
-
PK deficiency
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hemolytic anemia due to red cell pyruvate kinase deficiency
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pyruvate kinase deficiency of erythrocyte
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Saccharomyces cerevisiae S288C
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