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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 1
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Accession:DOID:0112237 term browser browse the term
Definition:A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in the PAFAH1B1 gene on chromosome 17p13.3. (DO)
Synonyms:exact_synonym: ILS;   LIS1;   LISSENCEPHALY SEQUENCE, ISOLATED;   LISSENCEPHALY, CLASSIC;   PAFAH1B1-related lissencephaly
 broad_synonym: PAFAH1B1-ASSOCIATED LISSENCEPHALY/SUBCORTICAL BAND HETEROTOPIA;   PAFAH1B1-RELATED CONDITION
 related_synonym: SBH;   SCLH;   SUBCORTICAL BAND HETEROTOPIA;   SUBCORTICAL LAMINAR HETEROTOPIA
 primary_id: OMIM:607432
 xref: ORDO:95232


show annotations for term's descendants           Sort by:
lissencephaly 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia | ClinVar Annotator: match by term: PAFAH1B1-related condition | ClinVar Annotator: match by term: Subcortical band heterotopia OMIM
ClinVar		 PMID:1671808 PMID:10441340 PMID:11115846 PMID:11502906 PMID:14581661 More... NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital nervous system abnormality 1496
        lissencephaly 116
          lissencephaly 1 3
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
                      lissencephaly 1 3
paths to the root