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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:Macrocephaly Mesodermal Hamartoma Spectrum
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Accession:DOID:9006361 term browser browse the term
Synonyms:exact_synonym: Elattoproteus syndrome;   Gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly;   Hemihypertrophy and macrocephaly;   Partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly
 primary_id: MESH:C537716;   RDO:0003604
For additional species annotation, visit the Alliance of Genome Resources.


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Macrocephaly Mesodermal Hamartoma Spectrum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Elattoproteus syndrome ClinVar PMID:17611497, PMID:18256540, PMID:18392055, PMID:18504432, PMID:18611285, PMID:19418217, PMID:19487299, PMID:19853286, PMID:20233444, PMID:20453058, PMID:21464312, PMID:21512767, PMID:21793738, PMID:22538770, PMID:22610119, PMID:22722201, PMID:22722839, PMID:22980975, PMID:23237847, PMID:23348505, PMID:23700467, PMID:23728071, PMID:23934607, PMID:24190505, PMID:24657128, PMID:25157968, PMID:26619011, PMID:28492532 NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12678
    Developmental Diseases 8956
      bone development disease 1305
        Proteus syndrome 2
          Macrocephaly Mesodermal Hamartoma Spectrum 1
Path 2
Term Annotations click to browse term
  disease 12678
    disease of anatomical entity 12216
      Skin and Connective Tissue Diseases 4812
        connective tissue disease 3596
          bone disease 3072
            bone development disease 1305
              Proteus syndrome 2
                Macrocephaly Mesodermal Hamartoma Spectrum 1
paths to the root

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