Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:primary autosomal dominant microcephaly 18
go back to main search page
Accession:DOID:0070295 term browser browse the term
Definition:A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21. (DO)
Synonyms:exact_synonym: MCPH18;   WDFY3-RELATED CONDITION
 primary_id: OMIM:617520


show annotations for term's descendants           Sort by:
primary autosomal dominant microcephaly 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDFY3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly 18, primary, autosomal dominant | ClinVar Annotator: match by term: WDFY3-related condition OMIM
ClinVar		 PMID:25741868 PMID:27008544 PMID:28492532 PMID:31327001 NCBI chr32:8,430,856...8,662,988
Ensembl chr32:8,433,080...8,695,859 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    physical disorder 4881
      congenital nervous system abnormality 1487
        microcephaly 1121
          primary microcephaly 44
            primary autosomal dominant microcephaly 18 1
Path 2
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        genetic disease 17430
          monogenic disease 10130
            autosomal genetic disease 9337
              autosomal dominant disease 6139
                complex cortical dysplasia with other brain malformations 1587
                  Malformations of Cortical Development, Group I 1368
                    microcephaly 1121
                      primary microcephaly 44
                        primary autosomal dominant microcephaly 18 1
paths to the root