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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
 narrow_synonym: Aarskog-like syndrome;   Kuwait type faciodigitogenital syndrome;   faciodigitogenital syndrome, recessive
 xref: MESH:C535331;   MIM:227330;   ORDO:915


show annotations for term's descendants           Sort by:
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 disease | ClinVar Annotator: match by term: Aarskog syndrome 		CTD
ClinVar		 PMID:000740980 PMID:4146757 PMID:7954831 PMID:10930571 PMID:11093277 More... NCBI chr  X:20,023,746...20,066,734
Ensembl chr  X:23,467,530...23,509,979 		JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Aarskog disease | ClinVar Annotator: match by term: Aarskog syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:20,064,102...20,072,673
Ensembl chr  X:23,507,142...23,515,659 		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:000740980 PMID:7954831 PMID:11940089 PMID:14560308 PMID:21739585 More... RGD:11554024, RGD:11554029, RGD:11554030, RGD:11554031 NCBI chr  X:20,023,746...20,066,734
Ensembl chr  X:23,467,530...23,509,979 		JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: FGD1-Related Disorders ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:20,064,102...20,072,673
Ensembl chr  X:23,507,142...23,515,659 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Aarskog syndrome 2
        X-linked Aarskog syndrome 2
        autosomal dominant Aarskog syndrome 0
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        Congenital Abnormalities 7954
          Musculoskeletal Abnormalities 3467
            Congenital Limb Deformities 1072
              Congenital Upper Extremity Deformities 234
                Congenital Hand Deformities 205
                  Aarskog syndrome 2
                    X-linked Aarskog syndrome 2
                    autosomal dominant Aarskog syndrome 0
paths to the root