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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 type II
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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


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Path 1
Term Annotations click to browse term
  disease 17412
    physical disorder 4823
      congenital nervous system abnormality 1473
        microcephaly 1110
          Microcephalic Osteodysplastic Primordial Dwarfism 3
            microcephalic osteodysplastic primordial dwarfism type II 1
Path 2
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          monogenic disease 9978
            autosomal genetic disease 9202
              autosomal dominant disease 6055
                complex cortical dysplasia with other brain malformations 1564
                  Malformations of Cortical Development, Group I 1349
                    microcephaly 1110
                      Microcephalic Osteodysplastic Primordial Dwarfism 3
                        microcephalic osteodysplastic primordial dwarfism type II 1
paths to the root