Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023
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Preferred Name

Mulibrey Nanism
Synonyms

Mulibrey Nanism Syndrome
Definitions

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.
ID

http://purl.bioontology.org/ontology/MESH/D050336
altLabel

Mulibrey Nanism Syndrome

Nanism, Mulibrey

Nanism Syndrome, Mulibrey

Syndrome, Perheentupa

Muscle-Liver-Brain-Eye Nanism

Muscle Liver Brain Eye Nanism

Syndrome, Mulibrey Nanism

Perheentupa Syndrome

Nanism, Muscle-Liver-Brain-Eye
AN

mulibrey (stands for MUscle, LIver, BRain, EYes): spell in titles & translations with lowercase m
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui

C0524582
DC

1
definition

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.
DX

20060101
HN

2006; use DWARFISM 1998-2005
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469
Machine permutation

2006; see DWARFISM 1998-2005
Mapped from

http://purl.bioontology.org/ontology/MESH/C538604
MDA

20050630
MMR

20120703
MN

C05.116.099.343.796

C16.320.240.875
notation

D050336
prefLabel

Mulibrey Nanism
TERMUI

T013399

T602664

T614040

T013400

T602665
TH

NLM (2006)

NLM (1998)

ORD (2010)

OMIM (2013)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MESH/D004392
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