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ONTOLOGY REPORT - ANNOTATIONS


Term:microcephalic osteodysplastic primordial dwarfism type II
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Accession:DOID:0060609 term browser browse the term
Definition:A 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;   Majewski osteodysplastic primordial dwarfism type II;   Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities;   Microcephalic osteodysplastic primordial dwarfism, type 2;   Mopd2;   MopdII;   Osteodysplastic primordial dwarfism, type 2;   osteodysplastic primordial dwarfism type II
 primary_id: MESH:C565898
 alt_id: OMIM:210720;   RDO:0014416
 xref: ORDO:2637
For additional species annotation, visit the Alliance of Genome Resources.


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microcephalic osteodysplastic primordial dwarfism type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:7240710
RGD:8554872
RGD:11537400
RGD:11537401
RGD:11537402
RGD:11537403

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  disease 15619
    physical disorder 744
      congenital nervous system abnormality 304
        microcephaly 210
          Microcephalic Osteodysplastic Primordial Dwarfism 2
            microcephalic osteodysplastic primordial dwarfism type II 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                complex cortical dysplasia with other brain malformations 481
                  Malformations of Cortical Development, Group I 338
                    microcephaly 210
                      Microcephalic Osteodysplastic Primordial Dwarfism 2
                        microcephalic osteodysplastic primordial dwarfism type II 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.