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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:lissencephaly 9 with complex brainstem malformation
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Accession:DOID:0112228 term browser browse the term
Definition:A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in MACF1 on chromosome 1p34.3. (DO)
Synonyms:exact_synonym: LIS9;   LISSENCEPHALY WITH BRAINSTEM HYPOPLASIA;   SPECTRAPLAKINOPATHY TYPE I;   lissencephaly 9;   lissencephaly with decussation defect;   posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
 primary_id: OMIM:618325
 alt_id: DOID:9005346
 xref: ORDO:572013
For additional species annotation, visit the Alliance of Genome Resources.


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lissencephaly 9 with complex brainstem malformation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION OMIM
ClinVar
PMID:24507697 PMID:25741868 PMID:30471716 NCBI chr 5:135,623,729...135,949,097
Ensembl chr 5:135,623,742...135,945,905
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    physical disorder 3086
      congenital nervous system abnormality 1042
        lissencephaly 70
          lissencephaly 9 with complex brainstem malformation 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                complex cortical dysplasia with other brain malformations 1194
                  Malformations of Cortical Development, Group II 141
                    lissencephaly 70
                      lissencephaly 9 with complex brainstem malformation 1
paths to the root