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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 NW_004955490 4,354,307 4,469,055 RGD:7240710
RGD:9068941
G Mnt MAX network transcriptional repressor JBrowse link NW_004955481 852,539 866,731 RGD:9068941
G Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 JBrowse link NW_004955481 608,897 686,454 RGD:9068941
Lissencephaly and Agenesis of Corpus Callosum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcx doublecortin JBrowse link NW_004955490 4,354,307 4,469,055 RGD:9068941
Lissencephaly, X-Linked, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arx aristaless related homeobox JBrowse link NW_004955509 5,326,145 5,338,250 RGD:7240710
RGD:9068941
subcortical band heterotopia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcx doublecortin JBrowse link NW_004955490 4,354,307 4,469,055 RGD:9068941
G Eml1 EMAP like 1 JBrowse link NW_004955438 20,991,432 21,137,570 RGD:7240710
RGD:9068941
G Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 JBrowse link NW_004955481 608,897 686,454 RGD:9068941
Subcortical Band Heterotopia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcx doublecortin JBrowse link NW_004955490 4,354,307 4,469,055 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11208
    physical disorder 697
      congenital nervous system abnormality 287
        lissencephaly 49
          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 11208
    disease of anatomical entity 10874
      nervous system disease 8733
        central nervous system disease 7030
          brain disease 6543
            disease of mental health 4817
              developmental disorder of mental health 2454
                specific developmental disorder 1719
                  intellectual disability 1580
                    syndromic intellectual disability 600
                      Mental Retardation, X-Linked 586
                        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.