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DeCS
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Descriptor English:
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Mulibrey Nanism
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Descriptor Spanish:
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Enanismo Mulibrey
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Descriptor Portuguese:
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Nanismo de Mulibrey
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Synonyms English:
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Mulibrey Nanism Syndrome
Muscle Liver Brain Eye Nanism
Muscle-Liver-Brain-Eye Nanism
Nanism Syndrome, Mulibrey
Nanism, Mulibrey
Nanism, Muscle-Liver-Brain-Eye
Perheentupa Syndrome
Syndrome, Mulibrey Nanism
Syndrome, Perheentupa
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Tree Number:
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C05.116.099.343.796
C16.320.240.875
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Definition English:
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Growth failure from birth that is due to mutations in a gene (TRIM37) on chromosome 17q22-q23 which encodes a RING-B-box-coiled-coil protein. |
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Indexing Annotation English:
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mulibrey (stands for MUscle, LIver, BRain, EYes): spell in titles & translations with lowercase m
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History Note English:
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2006; use DWARFISM 1998-2005
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Allowable Qualifiers English:
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Record Number:
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50474
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Unique Identifier:
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D050336
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Occurrence in VHL:
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Similar:
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DeCS
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