DOID:0110636
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congenital merosin-deficient muscular dystrophy 1A
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Aliases:
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CMD1A
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MDC1A
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Merosin-negative congenital muscular dystrophy
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congenital muscular dystrophy due to laminin alpha2 deficiency
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Caenorhabditis elegans
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DOID:0110636
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congenital merosin-deficient muscular dystrophy 1A
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Aliases:
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CMD1A
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MDC1A
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Merosin-negative congenital muscular dystrophy
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congenital muscular dystrophy due to laminin alpha2 deficiency
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Mus musculus (house mouse)
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DOID:0110635
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muscular dystrophy-dystroglycanopathy type B5
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Aliases:
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FKRP-related congenital muscular dystrophy
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MDC1C
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MDDGB5
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congenital muscular dystrophy 1C
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muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5
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muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
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Drosophila melanogaster (fruit fly)
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DOID:0110635
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muscular dystrophy-dystroglycanopathy type B5
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Aliases:
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FKRP-related congenital muscular dystrophy
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MDC1C
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MDDGB5
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congenital muscular dystrophy 1C
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muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5
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muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
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Xenopus laevis (African clawed frog)
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DOID:0110635
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muscular dystrophy-dystroglycanopathy type B5
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Aliases:
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FKRP-related congenital muscular dystrophy
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MDC1C
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MDDGB5
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congenital muscular dystrophy 1C
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muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5
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muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
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Rattus norvegicus (Norway rat)
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DOID:0110635
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muscular dystrophy-dystroglycanopathy type B5
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Aliases:
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FKRP-related congenital muscular dystrophy
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MDC1C
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MDDGB5
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congenital muscular dystrophy 1C
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muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5
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muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
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Mus musculus (house mouse)
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DOID:0110635
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muscular dystrophy-dystroglycanopathy type B5
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Aliases:
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FKRP-related congenital muscular dystrophy
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MDC1C
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MDDGB5
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congenital muscular dystrophy 1C
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muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5
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muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
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Danio rerio (zebrafish)
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DOID:0110635
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muscular dystrophy-dystroglycanopathy type B5
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Aliases:
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FKRP-related congenital muscular dystrophy
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MDC1C
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MDDGB5
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congenital muscular dystrophy 1C
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muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5
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muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
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Xenopus tropicalis (tropical clawed frog)
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DOID:0110633
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rigid spine muscular dystrophy 1
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Aliases:
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Eichsfeld type congenital muscular dystrophy
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MDRS1
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RSMD1
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RSS
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SEPN1-related myopathy
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classic MmD
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classic multiminicore disease
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classic multiminicore myopathy
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congenital merosin-positive muscular dystrophy with early spine rigidity
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desmin-related myopathy with Mallory bodies
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desmin-related myopathy with Mallory body-like inclusions
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early-onset desmin-related myopathy
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rigid spine syndrome
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severe classic form minicore myopathy
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severe classic form multicore myopathy
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severe classic form multiminicore disease
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Xenopus tropicalis (tropical clawed frog)
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DOID:0110633
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rigid spine muscular dystrophy 1
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Aliases:
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Eichsfeld type congenital muscular dystrophy
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MDRS1
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RSMD1
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RSS
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SEPN1-related myopathy
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classic MmD
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classic multiminicore disease
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classic multiminicore myopathy
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congenital merosin-positive muscular dystrophy with early spine rigidity
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desmin-related myopathy with Mallory bodies
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desmin-related myopathy with Mallory body-like inclusions
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early-onset desmin-related myopathy
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rigid spine syndrome
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severe classic form minicore myopathy
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severe classic form multicore myopathy
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severe classic form multiminicore disease
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Mus musculus (house mouse)
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DOID:0110633
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rigid spine muscular dystrophy 1
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Aliases:
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Eichsfeld type congenital muscular dystrophy
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MDRS1
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RSMD1
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RSS
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SEPN1-related myopathy
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classic MmD
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classic multiminicore disease
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classic multiminicore myopathy
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congenital merosin-positive muscular dystrophy with early spine rigidity
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desmin-related myopathy with Mallory bodies
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desmin-related myopathy with Mallory body-like inclusions
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early-onset desmin-related myopathy
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rigid spine syndrome
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severe classic form minicore myopathy
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severe classic form multicore myopathy
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severe classic form multiminicore disease
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Homo sapiens (human)
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DOID:0110633
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rigid spine muscular dystrophy 1
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Aliases:
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Eichsfeld type congenital muscular dystrophy
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MDRS1
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RSMD1
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RSS
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SEPN1-related myopathy
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classic MmD
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classic multiminicore disease
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classic multiminicore myopathy
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congenital merosin-positive muscular dystrophy with early spine rigidity
-
desmin-related myopathy with Mallory bodies
-
desmin-related myopathy with Mallory body-like inclusions
-
early-onset desmin-related myopathy
-
rigid spine syndrome
-
severe classic form minicore myopathy
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severe classic form multicore myopathy
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severe classic form multiminicore disease
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Danio rerio (zebrafish)
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DOID:0110632
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megaconial type congenital muscular dystrophy
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Aliases:
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congenital megaconial myopathy
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congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
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congenital muscular dystrophy with mitochondrial structural abnormalities
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megaconial congenital muscular dystrophy
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Homo sapiens (human)
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DOID:0110629
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Wolfram syndrome 1
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Aliases:
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DIDMOAD
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WFS1
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diabetes mellitus AND insipidus with optic atrophy AND deafness
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Homo sapiens (human)
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DOID:0110629
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Wolfram syndrome 1
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Aliases:
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DIDMOAD
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WFS1
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diabetes mellitus AND insipidus with optic atrophy AND deafness
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Drosophila melanogaster (fruit fly)
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DOID:0110629
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Wolfram syndrome 1
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Aliases:
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DIDMOAD
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WFS1
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diabetes mellitus AND insipidus with optic atrophy AND deafness
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Mus musculus (house mouse)
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DOID:0110626
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primary ciliary dyskinesia 2
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Aliases:
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CILD2
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primary ciliary dyskinesia 2 with or without situs inversus
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Homo sapiens (human)
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DOID:0110624
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primary ciliary dyskinesia 30
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Aliases:
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CILD30
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primary ciliary dyskinesia 30 without situs inversus
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Homo sapiens (human)
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DOID:0110617
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primary ciliary dyskinesia 5
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Aliases:
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CILD5
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primary ciliary dyskinesia 5 without situs inversus
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Homo sapiens (human)
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DOID:0110615
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primary ciliary dyskinesia 25
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Aliases:
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CILD25
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primary ciliary dyskinesia 25 with or without situs inversus
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Homo sapiens (human)
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DOID:0110612
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primary ciliary dyskinesia 10
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Aliases:
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CILD10
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primary ciliary dyskinesia 10 with or without situs inversus
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Homo sapiens (human)
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DOID:0110612
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primary ciliary dyskinesia 10
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Aliases:
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CILD10
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primary ciliary dyskinesia 10 with or without situs inversus
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Mus musculus (house mouse)
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DOID:0110609
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primary ciliary dyskinesia 23
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Aliases:
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CILD23
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primary ciliary dyskinesia 23 with or without situs inversus
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Homo sapiens (human)
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DOID:0110607
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primary ciliary dyskinesia 28
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Aliases:
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CILD28
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primary ciliary dyskinesia 28 with or without situs inversus
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Homo sapiens (human)
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DOID:0110605
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primary ciliary dyskinesia 7
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Aliases:
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CILD7
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primary ciliary dyskinesia 7 with or without situs inversus
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Mus musculus (house mouse)
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