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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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: ICD10CM:Q93.88;   NCI:C124852;   ORDO:531


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Miller-Dieker lissencephaly syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph1 diphthamide biosynthesis 1 ISS OMIM:247200 MouseDO NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850 		JBrowse link
G Hic1 HIC ZBTB transcriptional repressor 1 ISS OMIM:247200 MouseDO NCBI chr10:60,014,520...60,019,475
Ensembl chr10:60,011,528...60,019,475 		JBrowse link
G Mnt MAX network transcriptional repressor ISS OMIM:247200 MouseDO NCBI chr10:59,699,208...59,714,848
Ensembl chr10:59,699,585...59,714,835 		JBrowse link
G Myo1c myosin 1C ISO ClinVar Annotator: match by term: Miller Dieker syndrome ClinVar PMID:25741868 NCBI chr10:60,498,372...60,520,752
Ensembl chr10:60,498,280...60,520,752 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISS OMIM:247200 MouseDO NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808 		JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon ISS OMIM:247200 MouseDO NCBI chr10:60,584,665...60,622,352
Ensembl chr10:60,584,652...60,671,589 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      chromosomal deletion syndrome 1495
        Miller-Dieker lissencephaly syndrome 6
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                complex cortical dysplasia with other brain malformations 1595
                  Malformations of Cortical Development, Group II 185
                    lissencephaly 116
                      Miller-Dieker lissencephaly syndrome 6
paths to the root