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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
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Accession:DOID:9002954 term browser browse the term
For additional species annotation, visit the Alliance of Genome Resources.


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Microcephalic Osteodysplastic Primordial Dwarfism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism ClinVar PMID:18414213, PMID:28492532 NCBI chr20:12,943,523...13,038,615
Ensembl chr20:12,944,786...13,038,431
JBrowse link
microcephalic osteodysplastic primordial dwarfism type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1
ClinVar Annotator: match by term: Low-birth-weight dwarfism with skeletal dysplasia
ClinVar PMID:21474760, PMID:21474761, PMID:21977988, PMID:22581640, PMID:24865609, PMID:25741868, PMID:25741869, PMID:26522830, PMID:29165669, PMID:29265708 NCBI chr13:34,365,038...34,584,651
Ensembl chr13:34,365,147...34,584,651
JBrowse link
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 term: Microcephalic osteodysplastic primordial dwarfism type II
ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type 2
ClinVar Annotator: match by OMIM:210720
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)
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: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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      bone development disease 1336
        osteochondrodysplasia 445
          Microcephalic Osteodysplastic Primordial Dwarfism 2
            Microcephalic Osteodysplastic Primordial Dwarfism, Type III 0
            microcephalic osteodysplastic primordial dwarfism type I 1
            microcephalic osteodysplastic primordial dwarfism type II 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                complex cortical dysplasia with other brain malformations 743
                  Malformations of Cortical Development, Group I 597
                    microcephaly 433
                      Microcephalic Osteodysplastic Primordial Dwarfism 2
                        Microcephalic Osteodysplastic Primordial Dwarfism, Type III 0
                        microcephalic osteodysplastic primordial dwarfism type I 1
                        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.