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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 4
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Accession:DOID:0112235 term browser browse the term
Definition:A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the NDE1 gene on chromosome 16p13.11. (DO)
Synonyms:exact_synonym: LIS4;   lissencephaly 4 with microcephaly
 broad_synonym: NDE1-RELATED CONDITION
 primary_id: MIM:614019
 alt_id: DOID:9008921


show annotations for term's descendants           Sort by:
lissencephaly 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir484 microRNA 484 ISO ClinVar Annotator: match by term: Lissencephaly 4 ClinVar PMID:25741868 NCBI chr10:887,684...887,760 JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) | ClinVar Annotator: match by term: NDE1-related condition ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31389005 More... NCBI chr10:743,364...838,459
Ensembl chr10:1,263,194...1,345,678 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) | ClinVar Annotator: match by term: NDE1-related condition OMIM
ClinVar		 PMID:18414213 PMID:21529751 PMID:21529752 PMID:24033266 PMID:25326635 More... NCBI chr10:1,347,010...1,391,167
Ensembl chr10:1,347,018...1,383,447 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Neurodevelopmental Disorders 6988
        intellectual disability 4415
          lissencephaly 4 3
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        Congenital Abnormalities 7954
          Nervous System Malformations 2471
            complex cortical dysplasia with other brain malformations 1650
              Malformations of Cortical Development, Group II 206
                lissencephaly 134
                  microlissencephaly 5
                    lissencephaly 4 3
paths to the root