ONTOLOGY REPORT - ANNOTATIONS


Term:Aarskog syndrome
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Accession:DOID:6683 term browser browse the term
Definition:A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face. (DO)
Synonyms:exact_synonym: AAS;   Aarskog disease;   Aarskog-Scott syndrome;   Aarskog-like syndrome;   FGDY;   Facio-Digito-Genital Dysplasia;   Faciodigitogenital Syndrome;   Faciodigitogenital Syndrome, Recessive;   Faciogenital Dysplasia;   Greig's syndrome;   Kuwait Type faciodigitogenital syndrome
 narrow_synonym: AARSKOG SYNDROME, X-LINKED FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER;   MENTAL RETARDATION, X-LINKED, SYNDROMIC 16;   MRXS16
 primary_id: MESH:C535331
 alt_id: OMIM:305400;   RDO:0000392
 xref: GARD:4775
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Aarskog syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgd1 FYVE, RhoGEF and PH domain containing 1 JBrowse link X 20,100,942 20,143,871 RGD:7240710
RGD:8554872
RGD:11554024
RGD:11554029
RGD:11554030
RGD:11554031
RGD:11554173
G Tsr2 TSR2, ribosome maturation factor JBrowse link X 20,141,406 20,146,082 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    syndrome 4714
      Aarskog syndrome 2
        Aarskog Syndrome, Autosomal Dominant 0
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        central nervous system disease 6948
          brain disease 6454
            disease of mental health 4346
              developmental disorder of mental health 2600
                specific developmental disorder 1765
                  intellectual disability 1594
                    syndromic intellectual disability 665
                      Mental Retardation, X-Linked 651
                        syndromic X-linked intellectual disability 582
                          Aarskog syndrome 2
                            Aarskog Syndrome, Autosomal Dominant 0
paths to the root

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