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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 ClinVar Annotator: match by term: Aarskog syndrome ClinVar PMID:4146757 PMID:7954831 PMID:10930571 PMID:11093277 PMID:11940089 More... NCBI chrNW_004936751:1,355,606...1,397,282
Ensembl chrNW_004936751:1,351,795...1,397,288 		JBrowse link
G Tsr2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: Aarskog syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936751:1,350,542...1,355,449
Ensembl chrNW_004936751:1,350,481...1,358,110 		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 ClinVar Annotator: match by term: FGD1-Related Disorders | ClinVar Annotator: match by term: FGD1-related condition OMIM
ClinVar		 PMID:11940089 PMID:14560308 PMID:21739585 PMID:23211637 PMID:25046119 More... NCBI chrNW_004936751:1,355,606...1,397,282
Ensembl chrNW_004936751:1,351,795...1,397,288 		JBrowse link
G Tsr2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: FGD1-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936751:1,350,542...1,355,449
Ensembl chrNW_004936751:1,350,481...1,358,110 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      Aarskog syndrome 2
        X-linked Aarskog syndrome 2
        autosomal dominant Aarskog syndrome 0
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        Congenital Abnormalities 7061
          Musculoskeletal Abnormalities 3133
            Congenital Limb Deformities 975
              Congenital Upper Extremity Deformities 202
                Congenital Hand Deformities 179
                  Aarskog syndrome 2
                    X-linked Aarskog syndrome 2
                    autosomal dominant Aarskog syndrome 0
paths to the root