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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:Facial Hemihypertrophy
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Accession:DOID:9006378 term browser browse the term
Synonyms:exact_synonym: Facial Asymmetry;   Hemifacial Hyperplasia;   Hemifacial Hypertrophy
 primary_id: MESH:C563014
 alt_id: OMIM:133900



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hypoinsulinemic hypoglycemia with hemihypertrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and body hemihypertrophy | ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and hemihypertrophy OMIM
ClinVar
PMID:21979934 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr19:37,275,799...37,331,971
Ensembl chr19:45,791,800...45,840,271
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18006
    Pathological Conditions, Signs and Symptoms 12014
      Anatomical Pathological Conditions 2467
        Facial Asymmetry 8
          Facial Hemihypertrophy 1
            hypoinsulinemic hypoglycemia with hemihypertrophy 1
paths to the root