Descriptor English: | Mulibrey Nanism | ||||||
Descriptor Spanish: |
Enanismo Mulibrey
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Descriptor Portuguese: | Nanismo de Mulibrey | ||||||
Descriptor French: | Nanisme MULIBREY | ||||||
Entry term(s): |
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(s): |
C05.116.099.343.796 C16.320.240.875 |
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RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D050336 | ||||||
Scope note: | 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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Annotation: | mulibrey (stands for MUscle, LIver, BRain, EYes): spell in titles & translations with lowercase m |
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Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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Public MeSH Note: | 2006; see DWARFISM 1998-2005 |
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History Note: | 2006; use DWARFISM 1998-2005 |
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DeCS ID: | 50474 | ||||||
Unique ID: | D050336 | ||||||
Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
Date Established: | 2006/01/01 | ||||||
Date of Entry: | 2005/06/30 | ||||||
Revision Date: | 2012/07/03 |
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Mulibrey Nanism
- Preferred
Concept UI |
M0006898 |
Scope note | 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. |
Preferred term | Mulibrey Nanism |
Entry term(s) |
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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