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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:Microcephalic Osteodysplastic Primordial Dwarfism
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Accession:DOID:9002954 term browser browse the term
Synonyms:exact_synonym: MOPD

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Microcephalic Osteodysplastic Primordial Dwarfism 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 ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004624745:31,402,791...31,516,522
Ensembl chrNW_004624745:31,403,014...31,515,751 		JBrowse link
microcephalic osteodysplastic primordial dwarfism type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Low-birth-weight dwarfism with skeletal dysplasia | ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 ClinVar PMID:10189087 PMID:12409455 PMID:12605445 PMID:21474760 PMID:21474761 More... NCBI chrNW_004624732:23,553,876...23,814,565
Ensembl chrNW_004624732:23,581,356...23,811,640 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624778:3,261,446...3,344,204
Ensembl chrNW_004624778:3,261,390...3,342,850 		JBrowse link
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
    Developmental Disease 12293
      bone development disease 2143
        osteochondrodysplasia 827
          Microcephalic Osteodysplastic Primordial Dwarfism 3
            Microcephalic Osteodysplastic Primordial Dwarfism, Type III 0
            microcephalic osteodysplastic primordial dwarfism type I 2
            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 III 0
                        microcephalic osteodysplastic primordial dwarfism type I 2
                        microcephalic osteodysplastic primordial dwarfism type II 1
paths to the root