Bulbo-Spinal Atrophy, X-Linked

Go to external page http://purl.bioontology.org/ontology/MESH/D055534


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

Instance info

Synonyms

X-Linked Bulbo-Spinal Atrophies, Bulbospinale Muskelatrophie, X-chromosomale (DE), Spinal And Bulbar Muscular Atrophy, X-Linked 1, Atrophy, Muscular, Spinobulbar, Spinobulbäre Muskelatrophie## (DE), Kennedy Disease, Kennedy's Disease, X Linked Bulbo Spinal Atrophy, Bulbospinal Muscular Atrophy, X-linked, Atrophy, Spinobulbar Muscular, Bulbospinal Muscular Atrophy, X linked, X-linked Bulbospinal Muscular Atrophy, Spinal and Bulbar Muscular Atrophy, Atrophies, X-Linked Bulbo-Spinal, X linked Bulbospinal Muscular Atrophy, Spinal And Bulbar Muscular Atrophy, X Linked 1, Kennedy Syndrome, Atrophy, X-Linked Bulbo-Spinal, Spinobulbar Muscular Atrophy, Muscular Atrophy, Spinobulbar, X Linked Spinal and Bulbar Muscular Atrophy, Kennedy Spinal and Bulbar Muscular Atrophy, X-Linked Bulbo-Spinal Atrophy, Spinobulbar Muscular Atrophies, Bulbo-Spinal Atrophies, X-Linked, Kennedy Syndrom (DE), X-Linked Spinal and Bulbar Muscular Atrophy, Bulbo Spinal Atrophy, X Linked

AN

SPINAL AND BULBAR MUSCULAR ATROPHY see MUSCULAR DISORDERS, ATROPHIC is also available

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

DC

1

DX

20090101

HN

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

MDA

20080708

MMR

20180629

MN

C10.228.854.468.399,C10.574.562.500.374,C10.668.467.500.186,C16.320.322.076,C10.574.500.175,C16.320.400.100

PM

2009; see MUSCULAR ATROPHY, SPINAL 2000-2008

QB

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D058540,http://purl.bioontology.org/ontology/MESH/D014402,http://purl.bioontology.org/ontology/MESH/D009472,http://purl.bioontology.org/ontology/MESH/D009477,http://purl.bioontology.org/ontology/MESH/D013132,http://purl.bioontology.org/ontology/MESH/D015794,http://purl.bioontology.org/ontology/MESH/D013734,http://purl.bioontology.org/ontology/MESH/D015418,http://purl.bioontology.org/ontology/MESH/D014923,http://purl.bioontology.org/ontology/MESH/D020192,http://purl.bioontology.org/ontology/MESH/D015417,http://purl.bioontology.org/ontology/MESH/D000795,http://purl.bioontology.org/ontology/MESH/D020163,http://purl.bioontology.org/ontology/MESH/D028227,http://purl.bioontology.org/ontology/MESH/D006816,http://purl.bioontology.org/ontology/MESH/D053307,http://purl.bioontology.org/ontology/MESH/D038261,http://purl.bioontology.org/ontology/MESH/D056830,http://purl.bioontology.org/ontology/MESH/D009800,http://purl.bioontology.org/ontology/MESH/D006015,http://purl.bioontology.org/ontology/MESH/D020388,http://purl.bioontology.org/ontology/MESH/D020389,http://purl.bioontology.org/ontology/MESH/D005489,http://purl.bioontology.org/ontology/MESH/D002836,http://purl.bioontology.org/ontology/MESH/D016098,http://purl.bioontology.org/ontology/MESH/D014897,http://purl.bioontology.org/ontology/MESH/D009224,http://purl.bioontology.org/ontology/MESH/D016114,http://purl.bioontology.org/ontology/MESH/D006211,http://purl.bioontology.org/ontology/MESH/D009223,http://purl.bioontology.org/ontology/MESH/D038901,http://purl.bioontology.org/ontology/MESH/D017825,http://purl.bioontology.org/ontology/MESH/D005879,http://purl.bioontology.org/ontology/MESH/D020371,http://purl.bioontology.org/ontology/MESH/D020194,http://purl.bioontology.org/ontology/MESH/D004422,http://purl.bioontology.org/ontology/MESH/D056889,http://purl.bioontology.org/ontology/MESH/D054546,http://purl.bioontology.org/ontology/MESH/D003057,http://purl.bioontology.org/ontology/MESH/D019871,http://purl.bioontology.org/ontology/MESH/D053358,http://purl.bioontology.org/ontology/MESH/D053632,http://purl.bioontology.org/ontology/MESH/D052120,http://purl.bioontology.org/ontology/MESH/D057973,http://purl.bioontology.org/ontology/MESH/D017253,http://purl.bioontology.org/ontology/MESH/D020279,http://purl.bioontology.org/ontology/MESH/D006105,http://purl.bioontology.org/ontology/MESH/D006527

TERMUI

T714349,T372531,T369583,T372533,T751051,T751050,T369582,T372532,T751049,T751048,T751047,T842506,T842505,T369607

TH

GHR (2014),ORD (2010),OMIM (2013),NLM (2009),NLM (2000),NLM (2010)

cui

C1839259

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

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

tui

T047

Instance relations

Types