Terminology Service for NFDI4Health
Classical Lissencephalies and Subcortical Band Heterotopias
Go to external page http://purl.bioontology.org/ontology/MESH/D054221Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)
Instance info
Synonyms
Heterotopias, Subcortical Laminar, Heterotopia, Lissencephaly-Subcortical Band, Lissenzephalien, Klassische (DE), Lissencephaly, X-Linked, 1, Lissencephaly Sequence, Isolated, X-chromosomale Lissenzephalie (DE), Lissencephaly, Miller-Dieker, Miller-Dieker-Syndrom (DE), Lissenzephalie - subkortikale Bandheterotopie (DE), Lissencephaly, Classical, Subcortical Laminar Heterotopia, Agyria-Pachygyria-Band Spectrum, Subkortikale laminare Heterotopie (DE), Classic Lissencephaly, Lissenzephalie, Miller-Dieker- (DE), Miller-Dieker Lissencephaly, Miller-Dieker Lissencephaly Syndrome, Heterotopias, Lissencephaly-Subcortical Band, Syndrome, Miller-Dieker Lissencephaly, Lissencephaly Syndrome, Miller Dieker, Lissencephaly, Type 1, X-chromosomal gebundene Lissenzephalie (DE), Classical Lissencephalies, Classical Lissencephaly Syndrome, Agyrie-Pachygyrie-Bandspektrum (DE), Double Cortex-Syndrom (DE), Agyria Pachygyria Band Spectrum, Lissenzephalie, X-chromosomale (DE), Lissencephaly-Subcortical Band Heterotopia, Lissencephaly 1, Heterotopia, Subcortical Laminar, Heterotopia, Subcortical Band, Miller Dieker Lissencephaly Syndrome, Lissencephalies, Type 1, X-Linked Lissencephaly, Lissencephalies, X-Linked, Miller Dieker Syndrome, Lissenzephalie, Typ 1- (DE), Klassische Lissenzephalien und subkortikale Bandheterotropien (DE), Lissencephalies, Classical, Classical Lissencephaly, Heterotopie, Subkortikale Band- (DE), Lissencephaly Type 1, Type 1 Lissencephaly, Syndrome, Miller-Dieker, Lissencephaly Syndrome, Miller-Dieker, Type 1 Lissencephalies, Typ 1-Lissenzephalie (DE), Lissencephaly, X-Linked, Lissencephaly, X Linked, Double Cortex Syndrome, X-Linked Lissencephalies, Heterotopias, Subcortical Band, X Linked Lissencephaly, Lissencephaly, Classic, Lissenzephalie-Syndrom, Miller-Dieker- (DE), Lissencephaly, Miller Dieker, Lissencephaly Subcortical Band Heterotopia, Syndrome, Double Cortex, Subcortical Band Heterotopias, Subcortical Band Heterotopia, Lissencephaly-Subcortical Band Heterotopias, Chromosome 17p13.3 Deletion Syndrome, Miller-Dieker Syndrome, Subkortikale Bandheterotopie (DE), Isolated Lissencephaly Sequence, Band Heterotopia, Lissencephaly-Subcortical
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
20080101
HN
2008
MDA
20070709
MMR
20130708
MN
C10.500.507.450.230,C16.320.322.500.186,C16.131.666.507.450.499.230,C16.131.666.507.450.230,C10.500.507.450.499.230
PM
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/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,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/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/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/D054082,http://purl.bioontology.org/ontology/MESH/D007706,http://purl.bioontology.org/ontology/MESH/D007926,http://purl.bioontology.org/ontology/MESH/D038921,http://purl.bioontology.org/ontology/MESH/D054091,http://purl.bioontology.org/ontology/MESH/D015325,http://purl.bioontology.org/ontology/MESH/D016532,http://purl.bioontology.org/ontology/MESH/D054222,http://purl.bioontology.org/ontology/MESH/D000326,http://purl.bioontology.org/ontology/MESH/D005600,http://purl.bioontology.org/ontology/MESH/D015518
TERMUI
T680787,T680788,T680783,T684523,T680786,T684521,T680780,T812156,T684522,T812157,T680781,T680782,T680776,T680777,T680778,T680779,T680774,T680775,T812642,T812647,T812643,T812644,T842757,T842756,T842013
TH
NLM (2008),GHR (2014),ORD (2010),OMIM (2013),NLM (2013)
cui
C1848201,C1848199,C0431375,C0265219,C1955870,C4551968
hasSTY
http://purl.bioontology.org/ontology/STY/T047
mapped from
http://purl.bioontology.org/ontology/MESH/C531731,http://purl.bioontology.org/ontology/MESH/C564722,http://purl.bioontology.org/ontology/MESH/C563950,http://purl.bioontology.org/ontology/MESH/C538475,http://purl.bioontology.org/ontology/MESH/C564563
tui
T047
Instance relations
Types