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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 2
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Accession:DOID:9006272 term browser browse the term
Synonyms:exact_synonym: MSSGM2
 primary_id: OMIM:616817
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM
ClinVar
PMID:25741868 PMID:26159176 PMID:26307080 NCBI chr13:44,577,840...44,585,737
Ensembl chr13:44,577,932...44,585,737
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Pathological Conditions, Signs and Symptoms 11168
      Pathologic Processes 7535
        Growth Disorders 855
          Microcephaly, Short Stature, and Impaired Glucose Metabolism 2
            Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                complex cortical dysplasia with other brain malformations 1421
                  Malformations of Cortical Development, Group I 1267
                    microcephaly 1103
                      Microcephaly, Short Stature, and Impaired Glucose Metabolism 2
                        Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 1
paths to the root