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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


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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 1		 OMIM
CTD
ClinVar		 PMID:24204302 PMID:25053765 PMID:25741868 PMID:26535115 PMID:28492532 More... NCBI chr 2:226,669,445...226,684,166
Ensembl chr 2:226,669,832...226,684,151 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 2		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26159176 PMID:26307080 PMID:28492532 NCBI chr13:44,577,840...44,585,737
Ensembl chr13:44,577,932...44,585,737 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Pathologic Processes 7991
        Growth Disorders 1012
          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 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                complex cortical dysplasia with other brain malformations 1595
                  Malformations of Cortical Development, Group I 1379
                    microcephaly 1130
                      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