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DeCS
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Descriptor English:
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Refsum Disease, Infantile
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Descriptor Spanish:
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Enfermedad de Refsum Infantil
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Descriptor Portuguese:
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Doença de Refsum Infantil
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Synonyms English:
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Disease, Infantile Refsum
Disease, Infantile Refsum's
Infantile Form of Phytanic Acid Storage Disease
Infantile Phytanic Acid Storage Disease
Infantile Refsum Disease
Infantile Refsum's Disease
Infantile Refsums Disease
Refsum Disease, Infantile Form
Refsum's Disease, Infantile
Refsums Disease, Infantile
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Tree Number:
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C10.228.140.163.100.844
C16.320.565.189.844
C16.320.565.663.865
C18.452.132.100.844
C18.452.648.189.844
C18.452.648.663.865
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Definition English:
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An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES. |
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Indexing Annotation English:
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do not confuse with REFSUM DISEASE
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History Note English:
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2007; use PEROXISOMAL DISORDERS 1996-2006
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Allowable Qualifiers English:
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Record Number:
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52110
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Unique Identifier:
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D052919
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Occurrence in VHL:
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Similar:
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DeCS
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