Aicardi Syndrome

Go to external page http://purl.bioontology.org/ontology/MESH/D058540


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.

Instance info

Synonyms

Agenesis of Corpus Callosum with Chorioretinal Abnormality, Chorioretinal Anomalies with Acc, Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities, Callosal Agenesis and Ocular Abnormalities, Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality, Aicardi's Syndrome, Syndrome, Aicardi, Corpus callosum-Agenesie (DE), Agenesie, Corpus callosum (DE), Aicardi-Syndrom (DE), Syndrome, Aicardi's

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

20110101

HN

2011

MDA

20100625

MMR

20130708

MN

C16.320.290.019,C16.320.322.030,C16.131.162,C10.500.034.687,C16.131.666.034.687,C11.270.019

PM

2011

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/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,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/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,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/D057130,http://purl.bioontology.org/ontology/MESH/D014564,http://purl.bioontology.org/ontology/MESH/D025063,http://purl.bioontology.org/ontology/MESH/D012868,http://purl.bioontology.org/ontology/MESH/D065630,http://purl.bioontology.org/ontology/MESH/D015619,http://purl.bioontology.org/ontology/MESH/D015418,http://purl.bioontology.org/ontology/MESH/D014923,http://purl.bioontology.org/ontology/MESH/D000795,http://purl.bioontology.org/ontology/MESH/D020163,http://purl.bioontology.org/ontology/MESH/D003103,http://purl.bioontology.org/ontology/MESH/D000077765,http://purl.bioontology.org/ontology/MESH/D056830,http://purl.bioontology.org/ontology/MESH/D009800,http://purl.bioontology.org/ontology/MESH/D009008,http://purl.bioontology.org/ontology/MESH/D018376,http://purl.bioontology.org/ontology/MESH/D006015,http://purl.bioontology.org/ontology/MESH/D005124,http://purl.bioontology.org/ontology/MESH/D005489,http://purl.bioontology.org/ontology/MESH/D016114,http://purl.bioontology.org/ontology/MESH/D000071700,http://purl.bioontology.org/ontology/MESH/D015783,http://purl.bioontology.org/ontology/MESH/D020371,http://purl.bioontology.org/ontology/MESH/D049970,http://purl.bioontology.org/ontology/MESH/D019871,http://purl.bioontology.org/ontology/MESH/D053358,http://purl.bioontology.org/ontology/MESH/D055534,http://purl.bioontology.org/ontology/MESH/D053632,http://purl.bioontology.org/ontology/MESH/D015792,http://purl.bioontology.org/ontology/MESH/D012162,http://purl.bioontology.org/ontology/MESH/D015799,http://purl.bioontology.org/ontology/MESH/D015794,http://purl.bioontology.org/ontology/MESH/D004065,http://purl.bioontology.org/ontology/MESH/D013734,http://purl.bioontology.org/ontology/MESH/D057826,http://purl.bioontology.org/ontology/MESH/D053307,http://purl.bioontology.org/ontology/MESH/D000015,http://purl.bioontology.org/ontology/MESH/D000014,http://purl.bioontology.org/ontology/MESH/D050033,http://purl.bioontology.org/ontology/MESH/D020388,http://purl.bioontology.org/ontology/MESH/D000417,http://purl.bioontology.org/ontology/MESH/D002836,http://purl.bioontology.org/ontology/MESH/D020389,http://purl.bioontology.org/ontology/MESH/D000016,http://purl.bioontology.org/ontology/MESH/D065817,http://purl.bioontology.org/ontology/MESH/D058494,http://purl.bioontology.org/ontology/MESH/D012175,http://purl.bioontology.org/ontology/MESH/D012174,http://purl.bioontology.org/ontology/MESH/D009421,http://purl.bioontology.org/ontology/MESH/D012857,http://purl.bioontology.org/ontology/MESH/D038901,http://purl.bioontology.org/ontology/MESH/D004370,http://purl.bioontology.org/ontology/MESH/D056846,http://purl.bioontology.org/ontology/MESH/D056889,http://purl.bioontology.org/ontology/MESH/D052120,http://purl.bioontology.org/ontology/MESH/D044148,http://purl.bioontology.org/ontology/MESH/D057973,http://purl.bioontology.org/ontology/MESH/D018640,http://purl.bioontology.org/ontology/MESH/D055673,http://purl.bioontology.org/ontology/MESH/D006105,http://purl.bioontology.org/ontology/MESH/D016142,http://purl.bioontology.org/ontology/MESH/D009139,http://purl.bioontology.org/ontology/MESH/D003317

TERMUI

T764822,T765932,T840846,T840847,T840844,T800644,T840845

TH

GHR (2014),ORD (2010),OMIM (2013),NLM (2011),NLM (2014)

cui

C0175713

hasSTY

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

tui

T047

Instance relations

Types