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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:exact_synonym: SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT
 primary_id: MESH:C567306
 alt_id: OMIM:612447


show annotations for term's descendants           Sort by:
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 term: Skeletal defects, genital hypoplasia, and mental retardation ClinVar PMID:11891687 PMID:18611983 NCBI chr 8:48,989,376...49,177,011
Ensembl chr 8:48,994,566...49,177,011 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      bone development disease 2307
        Skeletal Defects, Genital Hypoplasia, And Mental Retardation 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4300
                    Skeletal Defects, Genital Hypoplasia, And Mental Retardation 1
paths to the root