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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
For additional species annotation, visit the Alliance of Genome Resources.


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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
ClinVar Annotator: match by term: FGDY
ClinVar Annotator: match by term: Aarskog disease
CTD
ClinVar
PMID:4146757 PMID:7954831 PMID:10930571 PMID:11093277 PMID:11940089 PMID:14560308 PMID:15327482 PMID:15809997 PMID:16353258 PMID:16688726 PMID:17152066 PMID:17847065 PMID:20082460 PMID:25741868 PMID:28492532 PMID:29276006 NCBI chr  X:20,100,942...20,143,871
Ensembl chr  X:20,216,587...20,225,955
Ensembl chr  X:20,216,587...20,225,955
JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Aarskog syndrome ClinVar PMID:25741868 NCBI chr  X:20,141,406...20,146,082
Ensembl chr  X:20,144,432...20,232,639
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: Syndromic X-linked mental retardation 16
OMIM
ClinVar
PMID:11940089 PMID:25741868 PMID:28492532, PMID:7954831, PMID:20082460, PMID:23211637, PMID:16353258 RGD:11554024, RGD:11554029, RGD:11554030, RGD:11554031 NCBI chr  X:20,100,942...20,143,871
Ensembl chr  X:20,216,587...20,225,955
Ensembl chr  X:20,216,587...20,225,955
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      Aarskog syndrome 2
        X-linked Aarskog syndrome 1
        autosomal dominant Aarskog syndrome 0
Path 2
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        Congenital Abnormalities 5187
          Musculoskeletal Abnormalities 2135
            Congenital Limb Deformities 453
              Congenital Upper Extremity Deformities 89
                Congenital Hand Deformities 74
                  Aarskog syndrome 2
                    X-linked Aarskog syndrome 1
                    autosomal dominant Aarskog syndrome 0
paths to the root