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lissencephaly 8 - Ontology Report - Rat Genome Database

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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 8
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Accession:DOID:0112233 term browser browse the term
Definition:A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on chromosome 12q21.32. (DO)
Synonyms:exact_synonym: LIS8;   TMTC3-RELATED CONDITION
 primary_id: MIM:617255
 alt_id: DOID:9003247

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lissencephaly 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Lissencephaly 8 | ClinVar Annotator: match by term: TMTC3-related condition OMIM
ClinVar		 PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161 NCBI chrNW_004624837:7,139,006...7,205,077
Ensembl chrNW_004624837:7,138,419...7,190,194 		JBrowse link
G G TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Lissencephaly 8 | ClinVar Annotator: match by term: TMTC3-related condition OMIM
ClinVar		 PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161 NCBI chr11:83,515,494...83,571,644
Ensembl chr11:83,521,169...83,571,695 		JBrowse link
G P TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Lissencephaly 8 | ClinVar Annotator: match by term: TMTC3-related condition OMIM
ClinVar		 PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161 NCBI chr 5:94,328,452...94,384,266
Ensembl chr 5:94,324,091...94,384,154 		JBrowse link
G S Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Lissencephaly 8 | ClinVar Annotator: match by term: TMTC3-related condition OMIM
ClinVar		 PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161 NCBI chrNW_004936507:5,305,489...5,349,828
Ensembl chrNW_004936507:5,305,460...5,352,337 		JBrowse link
G D TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Lissencephaly 8 | ClinVar Annotator: match by term: TMTC3-related condition OMIM
ClinVar		 PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161 NCBI chr15:29,280,423...29,350,449
Ensembl chr15:29,298,078...29,350,553 		JBrowse link
G B TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Lissencephaly 8 | ClinVar Annotator: match by term: TMTC3-related condition OMIM
ClinVar		 PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161 NCBI chr12:85,683,455...85,741,118
Ensembl chr12:88,989,033...89,046,630 		JBrowse link
G C Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Lissencephaly 8 | ClinVar Annotator: match by term: TMTC3-related condition OMIM
ClinVar		 PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161 NCBI chrNW_004955405:25,607,134...25,646,050
Ensembl chrNW_004955405:25,606,414...25,646,050 		JBrowse link
G R Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Lissencephaly 8 | ClinVar Annotator: match by term: TMTC3-related condition OMIM
ClinVar		 PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161 NCBI chr 7:37,151,456...37,196,550
Ensembl chr 7:35,264,892...35,310,385 		JBrowse link
G M Tmtc3 transmembrane and tetratricopeptide repeat containing 3 ISO ClinVar Annotator: match by term: Lissencephaly 8 | ClinVar Annotator: match by term: TMTC3-related condition OMIM
ClinVar		 PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161 NCBI chr10:100,279,764...100,323,230
Ensembl chr10:100,279,764...100,323,212 		JBrowse link
G H TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 IAGP ClinVar Annotator: match by term: TMTC3-related condition
ClinVar Annotator: match by term: Lissencephaly 8 | ClinVar Annotator: match by term: TMTC3-related condition		 OMIM
ClinVar		 PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161 NCBI chr12:88,142,307...88,199,887
Ensembl chr12:88,142,296...88,199,887 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    physical disorder 54044
      congenital nervous system abnormality 15621
        lissencephaly 1323
          lissencephaly 8 10
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            autosomal genetic disease 112806
              autosomal dominant disease 157513
                complex cortical dysplasia with other brain malformations 16799
                  Malformations of Cortical Development, Group II 2086
                    lissencephaly 1323
                      lissencephaly 8 10
paths to the root