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ONTOLOGY REPORT - ANNOTATIONS


Term:Classical Lissencephalies and Subcortical Band Heterotopias
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Accession:DOID:9008500 term browser browse the term
Definition:Disorders 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.)
Synonyms:exact_synonym: Classic Lissencephaly;   Classical Lissencephaly;   Classical Lissencephaly Syndrome;   Heterotopias, Subcortical Laminar;   Isolated Lissencephaly Sequence;   LISX1;   Lissencephaly 1;   Lissencephaly Subcortical Band Heterotopia;   Lissencephaly Type 1;   Lissencephaly, X-Linked, 1;   Lissencephaly-Subcortical Band Heterotopias;   Type 1 Lissencephalies;   X linked lissencephaly;   X-linked lissencephalies;   XLIS;   agyria pachygyria band spectrum;   classical lissencephalies
 narrow_synonym: LISSENCEPHALY AND AGENESIS OF CORPUS CALLOSUM SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED;   SBH;   SCLH
 primary_id: MESH:D054221
 alt_id: OMIM:300067;   RDO:0000151
For additional species annotation, visit the Alliance of Genome Resources.


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Classical Lissencephalies and Subcortical Band Heterotopias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcx doublecortin JBrowse link X 115,098,675 115,175,515 RGD:7240710
RGD:8554872
RGD:12904735
RGD:12904728
RGD:11568595
G Mnt MAX network transcriptional repressor JBrowse link 10 61,683,776 61,700,504 RGD:11554173
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 JBrowse link 10 61,456,144 61,577,412 RGD:8554872
Lissencephaly and Agenesis of Corpus Callosum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcx doublecortin JBrowse link X 115,098,675 115,175,515 RGD:8554872
Lissencephaly, X-Linked, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:7240710
RGD:8554872
RGD:11565832
subcortical band heterotopia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcx doublecortin JBrowse link X 115,098,675 115,175,515 RGD:12904717
G Eml1 EMAP like 1 JBrowse link 6 132,367,342 132,450,488 RGD:8554872
RGD:7240710
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 JBrowse link 10 61,456,144 61,577,412 RGD:8554872
Subcortical Band Heterotopia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcx doublecortin JBrowse link X 115,098,675 115,175,515 RGD:12904718
RGD:12904725
RGD:12904762

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    physical disorder 737
      congenital nervous system abnormality 298
        lissencephaly 52
          Classical Lissencephalies and Subcortical Band Heterotopias 5
            Lissencephaly and Agenesis of Corpus Callosum 1
            Lissencephaly, X-Linked, 2 1
            Subcortical Band Heterotopia, X-Linked 1
            subcortical band heterotopia 3
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        central nervous system disease 8075
          brain disease 7543
            disease of mental health 5494
              developmental disorder of mental health 2688
                specific developmental disorder 1856
                  intellectual disability 1685
                    syndromic intellectual disability 670
                      Mental Retardation, X-Linked 656
                        Classical Lissencephalies and Subcortical Band Heterotopias 5
                          Lissencephaly and Agenesis of Corpus Callosum 1
                          Lissencephaly, X-Linked, 2 1
                          Subcortical Band Heterotopia, X-Linked 1
                          subcortical band heterotopia 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.