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:microcephalic osteodysplastic primordial dwarfism type II
go back to main search page
Accession:DOID:0060609 term browser browse the term
Definition:An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. (DO)
Synonyms:exact_synonym: MOPD II;   MOPD2;   MOPDII;   Majewski osteodysplastic primordial dwarfism type II;   PCNT-RELATED CONDITION;   microcephalic osteodysplastic primordial dwarfism with tooth abnormalities;   microcephalic osteodysplastic primordial dwarfism, type 2;   osteodysplastic primordial dwarfism type II;   osteodysplastic primordial dwarfism, type 2
 primary_id: MESH:C565898
 alt_id: OMIM:210720
 xref: ORDO:2637

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
microcephalic osteodysplastic primordial dwarfism type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II | ClinVar Annotator: match by term: PCNT-related condition OMIM
ClinVar		 PMID:9536098 PMID:12210304 PMID:15372530 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624745:31,402,791...31,516,522
Ensembl chrNW_004624745:31,403,014...31,515,751 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14102
    physical disorder 4599
      congenital nervous system abnormality 1411
        microcephaly 1088
          Microcephalic Osteodysplastic Primordial Dwarfism 3
            microcephalic osteodysplastic primordial dwarfism type II 1
Path 2
Term Annotations click to browse term
  disease 14102
    Developmental Disease 12293
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11525
        genetic disease 11216
          monogenic disease 9421
            autosomal genetic disease 8754
              autosomal dominant disease 5777
                complex cortical dysplasia with other brain malformations 1520
                  Malformations of Cortical Development, Group I 1315
                    microcephaly 1088
                      Microcephalic Osteodysplastic Primordial Dwarfism 3
                        microcephalic osteodysplastic primordial dwarfism type II 1
paths to the root