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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;   FGD1-RELATED CONDITION;   FGD1-RELATED DISORDERS;   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.


show annotations for term's descendants           Sort by:
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 10832
      Aarskog syndrome 2
        X-linked Aarskog syndrome 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            disease of mental health 8301
              developmental disorder of mental health 5543
                specific developmental disorder 4505
                  intellectual disability 4290
                    X-Linked Intellectual Developmental Disorders 807
                      syndromic X-linked intellectual disability 617
                        X-linked Aarskog syndrome 2
paths to the root