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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:Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
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Accession:DOID:9005631 term browser browse the term
Definition:IDDSFAS is caused by homozygous mutation in the FBXL3 gene on chromosome 13q22. (OMIM)
Synonyms:exact_synonym: IDDSFAS;   INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
 primary_id: MESH:C565248;   OMIM:606220
 alt_id: RDO:0013943
For additional species annotation, visit the Alliance of Genome Resources.


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Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Mental retardation, short stature, facial anomalies, and joint dislocations OMIM
ClinVar
PMID:11477608 PMID:30481285 NCBI chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Wounds and Injuries 838
      Joint Dislocations 13
        Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              developmental disorder of mental health 3187
                specific developmental disorder 2367
                  intellectual disability 2190
                    Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 1
paths to the root