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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Fbxl3 F-box and leucine-rich repeat protein 3 JBrowse link 15 93,647,307 93,667,395 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    Wounds and Injuries 823
      Joint Dislocations 12
        Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5775
              developmental disorder of mental health 2917
                specific developmental disorder 2099
                  intellectual disability 1940
                    Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.