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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:Microcephaly, Short Stature, and Impaired Glucose Metabolism
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Accession:DOID:9008578 term browser browse the term
Synonyms:exact_synonym: MSSGM
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trmt10a tRNA methyltransferase 10A ISO ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 1 OMIM
ClinVar
PMID:24204302 PMID:25053765 PMID:25741868 NCBI chr 2:243,422,811...243,437,533
Ensembl chr 2:243,422,811...243,438,050
JBrowse link
Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1r15b protein phosphatase 1, regulatory subunit 15B ISO ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 2 ClinVar
OMIM
PMID:25741868 PMID:26159176 PMID:26307080 NCBI chr13:49,933,155...49,940,961
Ensembl chr13:49,933,155...49,940,961
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital nervous system abnormality 512
        microcephaly 410
          Microcephaly, Short Stature, and Impaired Glucose Metabolism 2
            Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 1
            Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                complex cortical dysplasia with other brain malformations 707
                  Malformations of Cortical Development, Group I 564
                    microcephaly 410
                      Microcephaly, Short Stature, and Impaired Glucose Metabolism 2
                        Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 1
                        Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 1
paths to the root