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Descriptor English: Mulibrey Nanism
Descriptor Spanish: Enanismo Mulibrey
Descriptor enanismo mulibrey
Entry term(s) enanismo de Mulibrey
síndrome Mulibrey
síndrome de Mulibrey
síndrome de Perheentupa
Scope note: Defecto del crecimiento desde el nacimiento debido a mutaciones de un gen (TRIM37) en el cromosoma 17q22-q23 que codifica una proteína con motivos de tipo RING, caja B y alfahélices entrelazadas.
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
Tree number(s): C05.116.099.343.796
C16.320.240.875
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.
Annotation: mulibrey (stands for MUscle, LIver, BRain, EYes): spell in titles & translations with lowercase m
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
Public MeSH Note: 2006; see DWARFISM 1998-2005
History Note: 2006; use DWARFISM 1998-2005
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
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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