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ONTOLOGY REPORT - ANNOTATIONS


Term:Miller-Dieker lissencephaly syndrome
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Accession:DOID:0060469 term browser browse the term
Definition:A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene. (DO)
Synonyms:exact_synonym: MDCR;   MDLS;   MDS;   MDS chromosome 17p13.3 deletion syndrome;   Miller-Dieker lissencephaly;   Miller-Dieker syndrome;   Miller-Dieker syndrome chromosome region;   chromosome 17p13.3 deletion syndrome
 primary_id: OMIM:247200
 alt_id: RDO:9004023
 xref: NCI:C124852;   ORDO:531
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Miller-Dieker lissencephaly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dph1 diphthamide biosynthesis 1 JBrowse link 10 62,019,379 62,032,384 RGD:13592920
G Hic1 HIC ZBTB transcriptional repressor 1 JBrowse link 10 62,007,150 62,010,774 RGD:13592920
G Mnt MAX network transcriptional repressor JBrowse link 10 61,683,776 61,700,504 RGD:13592920
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 JBrowse link 10 61,456,144 61,577,412 RGD:13592920
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon JBrowse link 10 63,884,338 63,921,709 RGD:13592920

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Path 1
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  disease 15619
    syndrome 5154
      chromosomal deletion syndrome 502
        Miller-Dieker lissencephaly syndrome 5
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                complex cortical dysplasia with other brain malformations 481
                  Malformations of Cortical Development, Group II 125
                    lissencephaly 52
                      Miller-Dieker lissencephaly syndrome 5
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.