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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 14
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Accession:DOID:0060821 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24. (DO)
Synonyms:exact_synonym: MRXS14;   syndromic X-linked intellectual developmental disorder 14;   syndromic X-linked mental retardation 14
 primary_id: MESH:C567063
 alt_id: MIM:300676
 xref: ORDO:776


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syndromic X-linked intellectual disability 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,395,512...116,410,697
Ensembl chr  X:116,395,516...116,410,697 		JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:117,087,284...117,108,023
Ensembl chr  X:117,057,423...117,108,020 		JBrowse link
G C1galt1c1 C1GALT1-specific chaperone 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:117,378,123...117,382,620
Ensembl chr  X:117,375,525...117,382,787 		JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:122,154,332...122,192,299
Ensembl chr  X:117,287,484...117,326,688 		JBrowse link
G Dock11 dedicator of cytokinesis 11 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:115,131,720...115,314,854
Ensembl chr  X:115,131,909...115,314,854 		JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:120,213,670...120,294,777
Ensembl chr  X:115,348,860...115,408,681
Ensembl chr11:115,348,860...115,408,681 		JBrowse link
G Kiaa1210 KIAA1210 homolog ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:115,675,412...115,725,950
Ensembl chr  X:115,675,427...115,725,925 		JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:122,038,734...122,087,745
Ensembl chr  X:117,057,606...117,260,522 		JBrowse link
G Lonrf3 LON peptidase N-terminal domain and ring finger 3 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:115,565,214...115,603,886
Ensembl chr  X:115,565,267...115,598,809 		JBrowse link
G Mcts1 MCTS1, re-initiation and release factor ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:122,215,602...122,228,101
Ensembl chr  X:117,350,889...117,362,504 		JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:121,289,904...121,293,555
Ensembl chr  X:116,424,223...116,428,633 		JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:121,238,714...121,258,360
Ensembl chr  X:116,372,839...116,394,945 		JBrowse link
G Nkrf NFKB repressing factor ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,126,341...116,144,554
Ensembl chr  X:116,128,798...116,144,628 		JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:120,698,610...120,706,805
Ensembl chr  X:115,832,884...115,888,682 		JBrowse link
G Rhox13 Rhox homeobox family member 13 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,911,226...116,917,758
Ensembl chr  X:116,911,329...116,917,644 		JBrowse link
G Rhoxf2b Rhox homeobox family member 2B ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,507,488...116,514,240
Ensembl chr  X:116,507,488...116,513,870 		JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,427,941...116,429,164
Ensembl chr  X:116,427,684...116,433,762 		JBrowse link
G Rpl39 ribosomal protein L39 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:121,192,901...121,195,896
Ensembl chr18:6,326,330...6,326,692
Ensembl chr  X:6,326,330...6,326,692
Ensembl chr  X:6,326,330...6,326,692
Ensembl chr15:6,326,330...6,326,692
Ensembl chr20:6,326,330...6,326,692
Ensembl chr 7:6,326,330...6,326,692 		JBrowse link
G Septin6 septin 6 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,153,255...116,230,334
Ensembl chr  X:116,153,255...116,230,115 		JBrowse link
G Slc25a43 solute carrier family 25, member 43 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:115,977,437...116,011,789
Ensembl chr  X:115,977,510...116,011,205 		JBrowse link
G Slc25a5 solute carrier family 25 member 5 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:120,897,616...120,900,683
Ensembl chr  X:116,031,803...116,034,967 		JBrowse link
G Sowahd sosondowah ankyrin repeat domain family member D ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,292,030...116,293,660
Ensembl chr  X:116,292,030...116,293,660 		JBrowse link
G Steep1 STING1 ER exit protein 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:120,953,335...120,979,861
Ensembl chr  X:116,060,929...116,114,159 		JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,970,793...117,035,008
Ensembl chr  X:116,970,695...117,035,008 		JBrowse link
G Ube2a ubiquitin-conjugating enzyme E2A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:120,979,993...120,990,773
Ensembl chr  X:116,113,875...116,125,070 		JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17236139 PMID:17576681 PMID:17704778 More... NCBI chr  X:116,335,308...116,353,332
Ensembl chr  X:116,335,308...116,353,236 		JBrowse link
G Zbtb33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,963,337...116,970,547
Ensembl chr  X:116,963,347...116,971,023 		JBrowse link
G Zcchc12 zinc finger CCHC-type containing 12 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:115,433,444...115,436,691
Ensembl chr  X:115,433,259...115,436,692 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14674
      Neurodevelopmental Disorders 6971
        intellectual disability 4391
          syndromic intellectual disability 763
            syndromic X-linked intellectual disability 620
              syndromic X-linked intellectual disability 14 28
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        central nervous system disease 12639
          brain disease 11857
            disease of mental health 8462
              developmental disorder of mental health 5653
                specific developmental disorder 4621
                  intellectual disability 4391
                    syndromic intellectual disability 763
                      syndromic X-linked intellectual disability 620
                        syndromic X-linked intellectual disability 14 28
paths to the root