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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:INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
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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 DISABILITY, SHORT STATURE, FACIAL ANOMALIES, AND JOINT DISLOCATIONS;   Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
 primary_id: MESH:C565248
 alt_id: MIM:606220


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INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS 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: Intellectual disability, short stature, facial anomalies, and joint dislocations OMIM
ClinVar
PMID:11477608 PMID:25741868 PMID:30481285 NCBI chrNW_004624751:23,374,622...23,391,535
Ensembl chrNW_004624751:23,374,702...23,398,727
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14170
    Wounds and Injuries 887
      Joint Dislocations 25
        INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS 1
Path 2
Term Annotations click to browse term
  disease 14170
    disease of anatomical entity 13885
      nervous system disease 12195
        central nervous system disease 10965
          brain disease 10288
            disease of mental health 7364
              developmental disorder of mental health 5033
                specific developmental disorder 4159
                  intellectual disability 3974
                    INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS 1
paths to the root