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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:X-linked 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: Aarskog-like syndrome;   Faciodigitogenital Syndrome, Recessive;   Greig's syndrome;   Kuwait Type faciodigitogenital syndrome
 narrow_synonym: FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER;   MRXS16;   syndromic X-linked mental retardation 16
 alt_id: OMIM:227330;   OMIM:305400
 xref: GARD:4775;   NCI:C129720
For additional species annotation, visit the Alliance of Genome Resources.



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X-linked Aarskog syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO DNA:insertion:cds:c.2121_2122insG (human)
DNA:mutations:multiple (human)
DNA:nonsense mutation:cds:p.W447X (human)
DNA:deletion:cds:c.2189delA (human)
OMIM
RGD
PMID:7954831 PMID:20082460 PMID:23211637 PMID:16353258 RGD:11554024, RGD:11554029, RGD:11554030, RGD:11554031 NCBI chr  X:20,023,746...20,066,730
Ensembl chr  X:20,023,746...20,066,566
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    syndrome 9686
      Aarskog syndrome 2
        X-linked Aarskog syndrome 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        central nervous system disease 11297
          brain disease 10584
            disease of mental health 7496
              developmental disorder of mental health 4864
                specific developmental disorder 4125
                  intellectual disability 3942
                    X-Linked Intellectual Developmental Disorders 754
                      syndromic X-linked intellectual disability 618
                        X-linked Aarskog syndrome 1
paths to the root