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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:Christianson syndrome
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Accession:DOID:0060825 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26. (DO)
Synonyms:exact_synonym: ANGELMAN SYNDROME-LIKE;   Angelman-Like Syndrome, X-Linked;   MRXSCH;   Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome;   X-linked intellectual deficit, South African type;   X-linked intellectual disability, South African type;   X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome;   syndromic X-linked intellectual developmental disorder, Christianson type;   syndromic X-linked mental retardation, Christianson type
 primary_id: MESH:C567484
 alt_id: MESH:C537450;   OMIM:300243
 xref: GARD:10572;   NCI:C181001;   ORDO:85278

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Christianson syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,837,036...10,934,833
Ensembl chrNW_004936513:10,845,610...10,947,288 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,488,525...10,598,366
Ensembl chrNW_004936513:10,488,532...10,598,493 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,784,181...10,788,679
Ensembl chrNW_004936513:10,784,181...10,788,680 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403 		JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16015284 PMID:16813600 PMID:18414213 PMID:19241098 More... NCBI chrNW_004936844:101,815...271,254
Ensembl chrNW_004936844:160,833...271,901 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:11,025,753...11,064,312
Ensembl chrNW_004936513:11,025,715...11,064,312 		JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,282,683...10,284,206
Ensembl chrNW_004936513:10,282,683...10,284,206 		JBrowse link
G Hivep2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chrNW_004936625:3,219,260...3,301,361
Ensembl chrNW_004936625:3,267,947...3,301,369 		JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,762,417...10,779,641
Ensembl chrNW_004936513:10,762,398...10,779,374 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,989,123...11,021,086 JBrowse link
G Rbmx RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,429,862...10,442,509
Ensembl chrNW_004936513:10,429,824...10,437,108 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 More... NCBI chrNW_004936844:284,938...314,524
Ensembl chrNW_004936844:284,141...314,545 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type OMIM
ClinVar		 PMID:9536098 PMID:15319456 PMID:15358621 PMID:16019685 PMID:16199547 More... NCBI chrNW_004936513:11,158,609...11,215,477
Ensembl chrNW_004936513:11,158,730...11,215,568 		JBrowse link
G Vgll1 vestigial like family member 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,704,343...10,742,583
Ensembl chrNW_004936513:10,721,500...10,742,670 		JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:9,780,895...9,792,865
Ensembl chrNW_004936513:9,786,709...9,793,077 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6287
      eye disease 3217
        ocular motility disease 226
          Christianson syndrome 15
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14119
      nervous system disease 12342
        central nervous system disease 11056
          brain disease 10379
            disease of mental health 7459
              developmental disorder of mental health 5073
                specific developmental disorder 4194
                  intellectual disability 4008
                    X-Linked Intellectual Developmental Disorders 745
                      syndromic X-linked intellectual disability 575
                        Christianson syndrome 15
paths to the root