Medical Subject Headings

Last uploaded: November 5, 2019
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Preferred Name

Bulbo-Spinal Atrophy, X-Linked
Synonyms

X-Linked Bulbo-Spinal Atrophies
Definitions

An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR.
ID

http://purl.bioontology.org/ontology/MESH/D055534
altLabel

X-Linked Bulbo-Spinal Atrophies

Atrophies, X-Linked Bulbo-Spinal

Bulbo Spinal Atrophy, X Linked

Kennedy Disease

Spinal And Bulbar Muscular Atrophy, X Linked 1

X linked Bulbospinal Muscular Atrophy

Bulbospinal Muscular Atrophy, X linked

Atrophy, X-Linked Bulbo-Spinal

Spinal and Bulbar Muscular Atrophy

Kennedy's Disease

Spinobulbar Muscular Atrophies

Bulbo-Spinal Atrophies, X-Linked

X-Linked Spinal and Bulbar Muscular Atrophy

Muscular Atrophy, Spinobulbar

Kennedy Syndrome

Atrophy, Muscular, Spinobulbar

X Linked Bulbo Spinal Atrophy

Kennedy Spinal and Bulbar Muscular Atrophy

Spinal And Bulbar Muscular Atrophy, X-Linked 1

Bulbospinal Muscular Atrophy, X-linked

Atrophy, Spinobulbar Muscular

X-linked Bulbospinal Muscular Atrophy

Spinobulbar Muscular Atrophy

X-Linked Bulbo-Spinal Atrophy

X Linked Spinal and Bulbar Muscular Atrophy
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

C1839259
DC

1
definition

An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR.
DX

20090101
HN

2009(2000); use MUSCULAR ATROPHY, SPINAL 2000-2008
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
Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D006816

http://purl.bioontology.org/ontology/MESH/D054546

http://purl.bioontology.org/ontology/MESH/D056889

http://purl.bioontology.org/ontology/MESH/D015418

http://purl.bioontology.org/ontology/MESH/D028227

http://purl.bioontology.org/ontology/MESH/D020389

http://purl.bioontology.org/ontology/MESH/D020279

http://purl.bioontology.org/ontology/MESH/D016098

http://purl.bioontology.org/ontology/MESH/D014923

http://purl.bioontology.org/ontology/MESH/D005489

http://purl.bioontology.org/ontology/MESH/D016114

http://purl.bioontology.org/ontology/MESH/D038261

http://purl.bioontology.org/ontology/MESH/D017825

http://purl.bioontology.org/ontology/MESH/D038901

http://purl.bioontology.org/ontology/MESH/D020371

http://purl.bioontology.org/ontology/MESH/D009800

http://purl.bioontology.org/ontology/MESH/D009224

http://purl.bioontology.org/ontology/MESH/D053307

http://purl.bioontology.org/ontology/MESH/D014897

http://purl.bioontology.org/ontology/MESH/D015794

http://purl.bioontology.org/ontology/MESH/D017253

http://purl.bioontology.org/ontology/MESH/D015417

http://purl.bioontology.org/ontology/MESH/D014402

http://purl.bioontology.org/ontology/MESH/D020388

http://purl.bioontology.org/ontology/MESH/D006527

http://purl.bioontology.org/ontology/MESH/D057973

http://purl.bioontology.org/ontology/MESH/D000795

http://purl.bioontology.org/ontology/MESH/D006211

http://purl.bioontology.org/ontology/MESH/D005879

http://purl.bioontology.org/ontology/MESH/D058540

http://purl.bioontology.org/ontology/MESH/D003057

http://purl.bioontology.org/ontology/MESH/D056830

http://purl.bioontology.org/ontology/MESH/D020163

http://purl.bioontology.org/ontology/MESH/D006105

http://purl.bioontology.org/ontology/MESH/D019871

http://purl.bioontology.org/ontology/MESH/D053632

http://purl.bioontology.org/ontology/MESH/D020192

http://purl.bioontology.org/ontology/MESH/D009223

http://purl.bioontology.org/ontology/MESH/D006015

http://purl.bioontology.org/ontology/MESH/D013132

http://purl.bioontology.org/ontology/MESH/D052120

http://purl.bioontology.org/ontology/MESH/D009477

http://purl.bioontology.org/ontology/MESH/D002836

http://purl.bioontology.org/ontology/MESH/D013734

http://purl.bioontology.org/ontology/MESH/D020194

http://purl.bioontology.org/ontology/MESH/D009472

http://purl.bioontology.org/ontology/MESH/D053358

http://purl.bioontology.org/ontology/MESH/D004422
Machine permutation

2009; see MUSCULAR ATROPHY, SPINAL 2000-2008
Mapped from

http://purl.bioontology.org/ontology/MESH/C537017
MDA

20080708
MMR

20180629
MN

C10.228.854.468.399

C10.668.467.500.186

C10.574.500.175

C16.320.322.076

C16.320.400.100

C10.574.562.500.374
notation

D055534
prefLabel

Bulbo-Spinal Atrophy, X-Linked
TERMUI

T751048

T842505

T369583

T751050

T842506

T369582

T369607

T751051

T751049

T372533

T372532

T714349

T751047

T372531
TH

NLM (2009)

NLM (2000)

NLM (2010)

ORD (2010)

OMIM (2013)

GHR (2014)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MESH/D009134

http://purl.bioontology.org/ontology/MESH/D040181

http://purl.bioontology.org/ontology/MESH/D020271
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/313700 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/313200 Online Mendelian Inheritance in Man CUI