Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
Accession:DOID:9002954 term browser browse the term
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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 chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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:12605445 PMID:21474760 PMID:21474761 PMID:21977988 PMID:22581640 More... NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Low-birth-weight dwarfism with skeletal dysplasia ClinVar PMID:16220557 PMID:19012347 PMID:21883168 PMID:24033266 PMID:24833718 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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
RGD
PMID:12210304 PMID:15372530 PMID:18157127 PMID:18174396 PMID:18414213 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      bone development disease 1425
        osteochondrodysplasia 478
          Microcephalic Osteodysplastic Primordial Dwarfism 3
            Microcephalic Osteodysplastic Primordial Dwarfism, Type III 0
            microcephalic osteodysplastic primordial dwarfism type I 2
            microcephalic osteodysplastic primordial dwarfism type II 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                complex cortical dysplasia with other brain malformations 1195
                  Malformations of Cortical Development, Group I 1054
                    microcephaly 897
                      Microcephalic Osteodysplastic Primordial Dwarfism 3
                        Microcephalic Osteodysplastic Primordial Dwarfism, Type III 0
                        microcephalic osteodysplastic primordial dwarfism type I 2
                        microcephalic osteodysplastic primordial dwarfism type II 1
paths to the root