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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: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;   MOPD2;   MOPDII;   Majewski osteodysplastic primordial dwarfism type II;   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
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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO DNA:deletion, nonsense mutations:exon:p.K3154del (c.9460_9462del), p.E1154X (c.3460G>T), p.P1923X (c.5765C>T) (human)
DNA:mutations: :multiple
DNA:frameshift mutations, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:frameshift mutations, nonsense mutation:exon:p.E220X (658G>T), 1887del, 3568_3569insT (human)
ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II
OMIM
ClinVar
RGD
PMID:9536098 PMID:12210304 PMID:15372530 PMID:16199547 PMID:17576681 More... RGD:11537400, RGD:11537401, RGD:11537402, RGD:11537403 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    physical disorder 4121
      congenital nervous system abnormality 1367
        microcephaly 1107
          Microcephalic Osteodysplastic Primordial Dwarfism 2
            microcephalic osteodysplastic primordial dwarfism type II 1
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        genetic disease 11118
          monogenic disease 8606
            autosomal genetic disease 7607
              autosomal dominant disease 5130
                complex cortical dysplasia with other brain malformations 1438
                  Malformations of Cortical Development, Group I 1283
                    microcephaly 1107
                      Microcephalic Osteodysplastic Primordial Dwarfism 2
                        microcephalic osteodysplastic primordial dwarfism type II 1
paths to the root