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syndromic X-linked intellectual disability Pilorge type - 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:syndromic X-linked intellectual disability Pilorge type
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Accession:DOID:0070422 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder that has_material_basis_in heterozygous or hemizygous mutation in the GLRA2 gene on chromosome Xp22. (DO)
Synonyms:exact_synonym: MRXSP;   syndromic X-linked intellectual developmental disorder, Pilorge type
 primary_id: MIM:301076
 alt_id: DOID:9001972

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syndromic X-linked intellectual disability Pilorge type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Fancb FA complementation group B ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type ClinVar PMID:20479760 PMID:25741868 PMID:28588452 NCBI chrNW_004624944:358,836...383,161
Ensembl chrNW_004624944:364,563...383,098 		JBrowse link
G G FANCB FA complementation group B ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type ClinVar PMID:20479760 PMID:25741868 PMID:28588452 NCBI chr  X:13,321,304...13,352,368
Ensembl chr  X:13,321,527...13,342,478 		JBrowse link
G P FANCB FA complementation group B ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type ClinVar PMID:20479760 PMID:25741868 PMID:28588452 NCBI chr  X:11,386,360...11,408,958
Ensembl chr  X:11,384,912...11,409,057 		JBrowse link
G S Fancb FA complementation group B ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type ClinVar PMID:20479760 PMID:25741868 PMID:28588452 NCBI chrNW_004936470:4,305,220...4,323,456
Ensembl chrNW_004936470:4,305,740...4,323,374 		JBrowse link
G D FANCB FA complementation group B ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type ClinVar PMID:20479760 PMID:25741868 PMID:28588452 NCBI chr  X:10,690,826...11,140,838
Ensembl chr  X:11,095,200...11,141,029 		JBrowse link
G B FANCB FA complementation group B ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type ClinVar PMID:20479760 PMID:25741868 PMID:28588452 NCBI chr  X:7,470,574...7,500,958
Ensembl chr  X:14,752,934...14,781,817 		JBrowse link
G C Fancb FA complementation group B ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type ClinVar PMID:20479760 PMID:25741868 PMID:28588452 NCBI chrNW_004955519:3,337,138...3,364,963
Ensembl chrNW_004955519:3,343,446...3,363,814 		JBrowse link
G R Fancb FA complementation group B ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type ClinVar PMID:20479760 PMID:25741868 PMID:28588452 NCBI chr  X:29,403,771...29,420,484
Ensembl chr  X:29,403,771...29,420,192 		JBrowse link
G M Fancb Fanconi anemia, complementation group B ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type ClinVar PMID:20479760 PMID:25741868 PMID:28588452 NCBI chr  X:163,763,678...163,780,266
Ensembl chr  X:163,763,588...163,780,268 		JBrowse link
G H FANCB FA complementation group B IAGP ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type ClinVar PMID:20479760 PMID:25741868 PMID:28588452 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G N Glra2 glycine receptor alpha 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type OMIM
ClinVar		 PMID:20479760 PMID:25741868 PMID:26370147 PMID:28135719 PMID:28492532 More... NCBI chrNW_004624944:512,482...704,805
Ensembl chrNW_004624944:512,441...704,786 		JBrowse link
G G GLRA2 glycine receptor alpha 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type OMIM
ClinVar		 PMID:20479760 PMID:25741868 PMID:26370147 PMID:28135719 PMID:28492532 More... NCBI chr  X:13,000,280...13,206,679
Ensembl chr  X:13,001,160...13,205,987 		JBrowse link
G P GLRA2 glycine receptor alpha 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type OMIM
ClinVar		 PMID:20479760 PMID:25741868 PMID:26370147 PMID:28135719 PMID:28492532 More... NCBI chr  X:11,111,655...11,288,496
Ensembl chr  X:11,111,822...11,288,587 		JBrowse link
G S Glra2 glycine receptor alpha 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type OMIM
ClinVar		 PMID:20479760 PMID:25741868 PMID:26370147 PMID:28135719 PMID:28492532 More... NCBI chrNW_004936470:4,014,897...4,202,625
Ensembl chrNW_004936470:4,014,885...4,202,633 		JBrowse link
G D GLRA2 glycine receptor alpha 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type OMIM
ClinVar		 PMID:20479760 PMID:25741868 PMID:26370147 PMID:28135719 PMID:28492532 More... NCBI chr  X:10,859,699...11,033,386
Ensembl chr  X:10,860,476...11,033,287 		JBrowse link
G B GLRA2 glycine receptor alpha 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type OMIM
ClinVar		 PMID:20479760 PMID:25741868 PMID:26370147 PMID:28135719 PMID:28492532 More... NCBI chr  X:7,145,794...7,349,911
Ensembl chr  X:14,430,441...14,634,973 		JBrowse link
G C Glra2 glycine receptor alpha 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type OMIM
ClinVar		 PMID:20479760 PMID:25741868 PMID:26370147 PMID:28135719 PMID:28492532 More... NCBI chrNW_004955519:3,492,313...3,682,028
Ensembl chrNW_004955519:3,492,305...3,682,087 		JBrowse link
G R Glra2 glycine receptor, alpha 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type OMIM
ClinVar		 PMID:20479760 PMID:25741868 PMID:26370147 PMID:28135719 PMID:28492532 More... NCBI chr  X:29,020,377...29,241,666
Ensembl chr  X:29,020,557...29,241,666 		JBrowse link
G M Glra2 glycine receptor, alpha 2 subunit ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type OMIM
ClinVar		 PMID:20479760 PMID:25741868 PMID:26370147 PMID:28135719 PMID:28492532 More... NCBI chr  X:163,912,013...164,110,863
Ensembl chr  X:163,912,013...164,110,389 		JBrowse link
G H GLRA2 glycine receptor alpha 2 IAGP ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type OMIM
ClinVar		 PMID:20479760 PMID:25741868 PMID:26370147 PMID:28135719 PMID:28492532 More... NCBI chr  X:14,448,779...14,731,812
Ensembl chr  X:14,529,298...14,731,812 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 292546
    Developmental Disease 170869
      Neurodevelopmental Disorders 77061
        intellectual disability 45658
          syndromic intellectual disability 7922
            syndromic X-linked intellectual disability 11706
              syndromic X-linked intellectual disability Pilorge type 20
Path 2
Term Annotations click to browse term
  disease 292546
    disease of anatomical entity 276172
      nervous system disease 194347
        central nervous system disease 160199
          brain disease 150992
            disease of mental health 111777
              developmental disorder of mental health 63993
                specific developmental disorder 50157
                  intellectual disability 45658
                    syndromic intellectual disability 7922
                      syndromic X-linked intellectual disability 11706
                        syndromic X-linked intellectual disability Pilorge type 20
paths to the root