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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr10:62,019,379...62,032,384
Ensembl chr10:62,019,379...62,032,407
JBrowse link
G Hic1 HIC ZBTB transcriptional repressor 1 ISS OMIM:247200 MouseDO NCBI chr10:62,007,150...62,010,774
Ensembl chr10:62,007,150...62,009,582
JBrowse link
G Mnt MAX network transcriptional repressor ISS OMIM:247200 MouseDO NCBI chr10:61,683,776...61,700,504
Ensembl chr10:61,685,241...61,700,491
JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISS OMIM:247200 MouseDO NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412
JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon ISS OMIM:247200 MouseDO NCBI chr10:63,884,338...63,921,709
Ensembl chr10:63,884,338...63,921,709
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      chromosomal deletion syndrome 868
        Miller-Dieker lissencephaly syndrome 5
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                complex cortical dysplasia with other brain malformations 743
                  Malformations of Cortical Development, Group II 136
                    lissencephaly 62
                      Miller-Dieker lissencephaly syndrome 5
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.