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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 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 16123
    physical disorder 2479
      congenital nervous system abnormality 523
        microcephaly 421
          Microcephalic Osteodysplastic Primordial Dwarfism 2
            microcephalic osteodysplastic primordial dwarfism type II 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal dominant disease 3160
                complex cortical dysplasia with other brain malformations 716
                  Malformations of Cortical Development, Group I 573
                    microcephaly 421
                      Microcephalic Osteodysplastic Primordial Dwarfism 2
                        microcephalic osteodysplastic primordial dwarfism type II 1
paths to the root