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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;   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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO ClinVar Annotator: match by OMIM:210720
ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type 2
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
PMID:12210304, PMID:15372530, PMID:18157127, PMID:18174396, PMID:18414213, PMID:19448849, PMID:19643772, PMID:19839044, PMID:19937158, PMID:21195721, PMID:21567919, PMID:23033978, PMID:24033266, PMID:25326635, PMID:25741868, PMID:27323140, PMID:27900370, PMID:28492532, PMID:32818659, PMID:21567919, PMID:18174396, PMID:19643772, PMID:18157127 RGD:11537400, RGD:11537401, RGD:11537402, RGD:11537403 NCBI chr20:12,943,523...13,038,615
Ensembl chr20:12,944,786...13,038,431
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    physical disorder 996
      congenital nervous system abnormality 544
        microcephaly 438
          Microcephalic Osteodysplastic Primordial Dwarfism 2
            microcephalic osteodysplastic primordial dwarfism type II 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal dominant disease 3036
                complex cortical dysplasia with other brain malformations 749
                  Malformations of Cortical Development, Group I 604
                    microcephaly 438
                      Microcephalic Osteodysplastic Primordial Dwarfism 2
                        microcephalic osteodysplastic primordial dwarfism type II 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.