Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023
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Preferred Name

Aicardi Syndrome
Synonyms

Aicardi's Syndrome
Definitions

A rare genetic disorder characterized by partial or complete absence of the CORPUS CALLOSUM, resulting in infantile spasms, MENTAL RETARDATION, and lesions of the RETINA or OPTIC NERVE.
ID

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

Aicardi's Syndrome

Syndrome, Aicardi's

Syndrome, Aicardi

Chorioretinal Anomalies with Acc

Agenesis of Corpus Callosum with Chorioretinal Abnormality

Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality

Callosal Agenesis and Ocular Abnormalities

Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities
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

C0175713
DC

1
definition

A rare genetic disorder characterized by partial or complete absence of the CORPUS CALLOSUM, resulting in infantile spasms, MENTAL RETARDATION, and lesions of the RETINA or OPTIC NERVE.
DX

20110101
HN

2011
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

2011
MDA

20100625
MMR

20130708
MN

C10.500.034.687

C16.131.162

C16.320.290.019

C16.320.322.030

C16.131.666.034.687

C11.270.019
notation

D058540
prefLabel

Aicardi Syndrome
TERMUI

T840847

T765932

T840845

T840846

T840844

T764822

T800644
TH

NLM (2011)

NLM (2014)

ORD (2010)

OMIM (2013)

GHR (2014)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MESH/D015785

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

http://purl.bioontology.org/ontology/MESH/D000013

http://purl.bioontology.org/ontology/MESH/D061085
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