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RGD uses the Human Disease Ontology (DO, 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: Hemifacial Hyperplasia
 primary_id: MESH:C563014;   RDO:0012476
For additional species annotation, visit the Alliance of Genome Resources.

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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 hemihypertrophy OMIM
PMID:21979934 NCBI chr 1:84,400,939...84,451,223
Ensembl chr 1:84,411,726...84,450,162
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Pathological Conditions, Signs and Symptoms 8739
      Anatomical Pathological Conditions 1525
        Facial Asymmetry 5
          Facial Hemihypertrophy 1
            Hypoinsulinemic Hypoglycemia with Hemihypertrophy 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.