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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 1
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Accession:DOID:9006685 term browser browse the term
Synonyms:exact_synonym: MSSGM1
 primary_id: OMIM:616033
For additional species annotation, visit the Alliance of Genome Resources.



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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 PMID:28492532 NCBI chr 2:226,669,445...226,684,166
Ensembl chr 2:226,669,832...226,684,151
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18110
    Pathological Conditions, Signs and Symptoms 11294
      Pathologic Processes 7691
        Growth Disorders 857
          Microcephaly, Short Stature, and Impaired Glucose Metabolism 2
            Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 1
Path 2
Term Annotations click to browse term
  disease 18110
    Developmental Disease 12861
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11545
        genetic disease 11079
          monogenic disease 8550
            autosomal genetic disease 7555
              autosomal dominant disease 5081
                complex cortical dysplasia with other brain malformations 1424
                  Malformations of Cortical Development, Group I 1270
                    microcephaly 1105
                      Microcephaly, Short Stature, and Impaired Glucose Metabolism 2
                        Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 1
paths to the root