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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:Fitzsimmons-McLachlan-Gilbert syndrome
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Accession:DOID:9006987 term browser browse the term
Synonyms:exact_synonym: Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis
 primary_id: MESH:C537058
 alt_id: MIM:309560


show annotations for term's descendants           Sort by:
Fitzsimmons-McLachlan-Gilbert syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: MENTAL RETARDATION WITH SPASTIC PARAPLEGIA AND PALMOPLANTAR HYPERKERATOSIS ClinVar PMID:21686261 PMID:25649377 PMID:25741868 PMID:26793055 PMID:27665735 More... NCBI chr  X:21,254,799...21,337,179
Ensembl chr  X:21,254,914...21,336,584 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      Fitzsimmons-McLachlan-Gilbert syndrome 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        central nervous system disease 12639
          brain disease 11857
            disease of mental health 8462
              developmental disorder of mental health 5653
                specific developmental disorder 4621
                  intellectual disability 4391
                    Fitzsimmons-McLachlan-Gilbert syndrome 1
paths to the root