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X-linked Aarskog syndrome - Ontology Report - Rat Genome Database

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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: MIM:227330;   MIM:305400
 xref: GARD:4775;   NCI:C129720
For additional species annotation, visit the Alliance of Genome Resources.

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X-linked Aarskog syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: FGD1-Related Disorders OMIM
ClinVar		 PMID:000740980 PMID:7954831 PMID:11940089 PMID:14560308 PMID:21739585 More... NCBI chrNW_004624909:2,316,749...2,370,097
Ensembl chrNW_004624909:2,316,431...2,370,179 		JBrowse link
G G FGD1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: FGD1-Related Disorders OMIM
ClinVar		 PMID:000740980 PMID:7954831 PMID:11940089 PMID:14560308 PMID:21739585 More... NCBI chr  X:50,554,648...50,609,437
Ensembl chr  X:50,556,168...50,583,010 		JBrowse link
G P FGD1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: FGD1-Related Disorders OMIM
ClinVar		 PMID:000740980 PMID:7954831 PMID:11940089 PMID:14560308 PMID:21739585 More... NCBI chr  X:47,191,838...47,231,656
Ensembl chr  X:47,192,427...47,231,342 		JBrowse link
G S Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: FGD1-Related Disorders OMIM
ClinVar		 PMID:000740980 PMID:7954831 PMID:11940089 PMID:14560308 PMID:21739585 More... NCBI chrNW_004936751:1,355,606...1,397,282
Ensembl chrNW_004936751:1,351,795...1,397,288 		JBrowse link
G D FGD1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: FGD1-Related Disorders OMIM
ClinVar		 PMID:000740980 PMID:7954831 PMID:11940089 PMID:14560308 PMID:21739585 More... NCBI chr  X:46,194,950...46,239,291
Ensembl chr  X:46,194,735...46,270,701 		JBrowse link
G B FGD1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: FGD1-Related Disorders OMIM
ClinVar		 PMID:000740980 PMID:7954831 PMID:11940089 PMID:14560308 PMID:21739585 More... NCBI chr  X:46,648,765...46,699,444
Ensembl chr  X:54,880,513...54,930,672 		JBrowse link
G C Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: FGD1-Related Disorders OMIM
ClinVar		 PMID:000740980 PMID:7954831 PMID:11940089 PMID:14560308 PMID:21739585 More... NCBI chrNW_004955475:1,703,374...1,752,710
Ensembl chrNW_004955475:1,703,374...1,752,710 		JBrowse link
G R Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: FGD1-Related Disorders
DNA:insertion:cds:c.2121_2122insG (human)
DNA:mutations:multiple (human)
DNA:nonsense mutation:cds:p.W447X (human)
DNA:deletion:cds:c.2189delA (human) 		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:20,023,746...20,066,566 		JBrowse link
G M Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: FGD1-Related Disorders
DNA:deletion:cds:c.2189delA (human)
DNA:nonsense mutation:cds:p.W447X (human)
DNA:mutations:multiple (human)
DNA:insertion:cds:c.2121_2122insG (human) 		OMIM
ClinVar
RGD		 PMID:000740980 PMID:7954831 PMID:11940089 PMID:14560308 PMID:21739585 More... RGD:11554031, RGD:11554030, RGD:11554029, RGD:11554024 NCBI chr  X:149,829,141...149,872,682
Ensembl chr  X:149,829,146...149,872,517 		JBrowse link
G H FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP DNA:insertion:cds:c.2121_2122insG (human)
ClinVar Annotator: match by term: FGD1-Related Disorders
DNA:deletion:cds:c.2189delA (human)
DNA:nonsense mutation:cds:p.W447X (human)
DNA:mutations:multiple (human) 		ClinVar
OMIM
RGD		 PMID:000740980 PMID:7954831 PMID:11940089 PMID:14560308 PMID:21739585 More... RGD:11554024, RGD:11554031, RGD:11554030, RGD:11554029 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234 		JBrowse link
G N Tsr2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: FGD1-Related Disorders ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624909:2,311,494...2,316,358
Ensembl chrNW_004624909:2,310,718...2,315,538 		JBrowse link
G G TSR2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: FGD1-Related Disorders ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:50,532,958...50,555,179 JBrowse link
G P TSR2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: FGD1-Related Disorders ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:47,186,610...47,192,465
Ensembl chr  X:47,186,643...47,192,452 		JBrowse link
G S Tsr2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: FGD1-Related Disorders 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
G D TSR2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: FGD1-Related Disorders ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:46,189,810...46,194,949
Ensembl chr  X:46,189,870...46,296,966 		JBrowse link
G B TSR2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: FGD1-Related Disorders ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:46,643,659...46,648,829
Ensembl chr  X:54,875,696...54,880,809 		JBrowse link
G C Tsr2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: FGD1-Related Disorders ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955475:1,698,926...1,703,404
Ensembl chrNW_004955475:1,698,136...1,703,404 		JBrowse link
G R 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:20,064,103...20,072,620 		JBrowse link
G M Tsr2 TSR2 20S rRNA accumulation ISO ClinVar Annotator: match by term: FGD1-Related Disorders ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:149,870,090...149,879,539
Ensembl chr  X:149,870,090...149,879,539 		JBrowse link
G H TSR2 TSR2 ribosome maturation factor IAGP ClinVar Annotator: match by term: FGD1-Related Disorders ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      Aarskog syndrome 20
        X-linked Aarskog syndrome 20
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          brain disease 148547
            disease of mental health 111500
              developmental disorder of mental health 63917
                specific developmental disorder 50074
                  intellectual disability 45595
                    X-Linked Intellectual Developmental Disorders 8427
                      syndromic X-linked intellectual disability 11710
                        X-linked Aarskog syndrome 20
paths to the root