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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:Aarskog syndrome
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Accession:DOID:0111824 term browser browse the term
Definition:A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature. (DO)
Synonyms:exact_synonym: AAS;   Aarskog disease;   Aarskog-Scott syndrome;   FGDY;   Facio-Digito-Genital Dysplasia;   faciodigitogenital syndrome;   faciogenital dysplasia
 primary_id: MESH:C535331
 xref: ORDO:915


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aarskog syndrome		 CTD
ClinVar		 PMID:4146757 PMID:7954831 PMID:10930571 PMID:11093277 PMID:11940089 More... NCBI chr  X:20,023,746...20,066,734
Ensembl chr  X:20,023,746...20,066,566 		JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Aarskog syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:20,064,102...20,072,673
Ensembl chr  X:20,064,103...20,072,620 		JBrowse link
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)
ClinVar Annotator: match by term: FGD1-Related Disorders | ClinVar Annotator: match by term: FGD1-related condition		 OMIM
ClinVar
RGD		 PMID:11940089 PMID:14560308 PMID:21739585 PMID:23211637 PMID:25046119 More... RGD:11554024, RGD:11554029, RGD:11554030, RGD:11554031 NCBI chr  X:20,023,746...20,066,734
Ensembl chr  X:20,023,746...20,066,566 		JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: FGD1-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:20,064,102...20,072,673
Ensembl chr  X:20,064,103...20,072,620 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Aarskog syndrome 2
        X-linked Aarskog syndrome 2
        autosomal dominant Aarskog syndrome 0
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        Congenital Abnormalities 7569
          Musculoskeletal Abnormalities 3288
            Congenital Limb Deformities 1021
              Congenital Upper Extremity Deformities 214
                Congenital Hand Deformities 185
                  Aarskog syndrome 2
                    X-linked Aarskog syndrome 2
                    autosomal dominant Aarskog syndrome 0
paths to the root