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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:Skeletal Defects, Genital Hypoplasia, And Mental Retardation
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Accession:DOID:9006347 term browser browse the term
Synonyms:primary_id: MESH:C567306
 alt_id: OMIM:612447
For additional species annotation, visit the Alliance of Genome Resources.


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Skeletal Defects, Genital Hypoplasia, And Mental Retardation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb16 zinc finger and BTB domain containing 16 ISO ClinVar Annotator: match by OMIM:612447 OMIM
ClinVar
PMID:11891687, PMID:18611983 NCBI chr 8:52,980,226...53,146,765
Ensembl chr 8:52,985,313...53,146,953
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      bone development disease 1336
        Skeletal Defects, Genital Hypoplasia, And Mental Retardation 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            disease of mental health 6016
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    Skeletal Defects, Genital Hypoplasia, And Mental Retardation 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.