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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 ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 1 | ClinVar Annotator: match by term: TRMT10A-related condition OMIM
ClinVar		 PMID:24204302 PMID:25053765 PMID:25741868 PMID:26535115 PMID:28492532 More... NCBI chr 2:226,669,445...226,684,166
Ensembl chr 2:229,342,864...229,360,108 		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 Annotator: match by term: PPP1R15B-related condition OMIM
ClinVar		 PMID:25741868 PMID:26159176 PMID:26307080 PMID:28492532 NCBI chr13:44,577,840...44,585,737
Ensembl chr13:47,129,967...47,137,798 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Pathologic Processes 8430
        Growth Disorders 1032
          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 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            complex cortical dysplasia with other brain malformations 1650
              Malformations of Cortical Development, Group I 1397
                microcephaly 1137
                  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