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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/D058540
http://purl.bioontology.org/ontology/MESH/D058540
|
|---|---|
| Preferred Name | Aicardi 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.
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| Synonyms |
Syndrome, Aicardi
Chorioretinal Anomalies with Acc
Aicardi's Syndrome
Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities
Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality
Callosal Agenesis and Ocular Abnormalities
Agenesis of Corpus Callosum with Chorioretinal Abnormality
Syndrome, Aicardi's
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| altLabel | Syndrome, Aicardi
Chorioretinal Anomalies with Acc
Aicardi's Syndrome
Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities
Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality
Callosal Agenesis and Ocular Abnormalities
Agenesis of Corpus Callosum with Chorioretinal Abnormality
Syndrome, Aicardi's
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| prefLabel | Aicardi Syndrome
|
| Machine permutation | 2011
|
| HN | 2011
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| type | |
| tui | T047
|
| TERMUI |
T765932
T764822
T840845
T800644
T840847
T840844
T840846
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| TH |
OMIM (2013)
GHR (2014)
NLM (2014)
NLM (2011)
ORD (2010)
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| MMR | 20130708
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| notation | D058540
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| Semantic type UMLS property | |
| Inverse of AQ |
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| DX | 20110101
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| cui | C0175713
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| DC | 1
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| MN |
C11.270.019
C16.320.290.019
C10.500.034.687
C16.131.666.034.687
C16.320.322.030
C16.131.162
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| 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
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| MDA | 20100127
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |