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Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 - 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:Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
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Accession:DOID:9002568 term browser browse the term
Synonyms:exact_synonym: DMJDS1;   MISSBC;   microcephaly, seizures, spasticity, and brain calcification
 broad_synonym: PCDH12-related condition
 xref: MIM:251280;   MONDO:0009625

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Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 | ClinVar Annotator: match by term: PCDH12-related condition OMIM
ClinVar		 PMID:7774041 PMID:22822038 PMID:25741868 PMID:27164683 PMID:28492532 More... NCBI chr18:30,354,910...30,370,485
Ensembl chr18:30,103,728...30,119,307 		JBrowse link
G Rnf14 ring finger protein 14 ISO ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 | ClinVar Annotator: match by term: PCDH12-related condition ClinVar PMID:7774041 PMID:22822038 PMID:25741868 PMID:27164683 PMID:28492532 More... NCBI chr18:30,381,072...30,406,859
Ensembl chr18:30,131,691...30,155,685 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Neurodevelopmental Disorders 6972
        Diencephalic-Mesencephalic Junction Dysplasia Syndromes 3
          Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            autosomal genetic disease 10452
              autosomal dominant disease 6794
                complex cortical dysplasia with other brain malformations 1643
                  Malformations of Cortical Development, Group I 1398
                    microcephaly 1146
                      Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 2
paths to the root