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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;   MIM: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_004624808:10,732,068...10,837,678
Ensembl chrNW_004624808:10,738,181...10,851,641 		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_004624808:10,320,388...10,464,081
Ensembl chrNW_004624808:10,319,793...10,465,514 		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_004624808:10,652,817...10,658,434
Ensembl chrNW_004624808:10,652,776...10,658,498 		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_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338 		JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16015284 PMID:16611748 PMID:16813600 PMID:17993579 More... NCBI chrNW_004624829:3,288,239...3,479,620
Ensembl chrNW_004624829:3,356,580...3,472,832 		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_004624808:10,924,606...10,984,422
Ensembl chrNW_004624808:10,924,248...10,965,164 		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_004624808:9,950,331...9,960,019
Ensembl chrNW_004624808:9,951,202...9,953,971 		JBrowse link
G Hivep2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chrNW_004624753:11,263,701...11,446,887
Ensembl chrNW_004624753:11,383,280...11,447,934 		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_004624808:10,634,919...10,648,734
Ensembl chrNW_004624808:10,634,597...10,648,892 		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_004624808:10,887,555...10,921,217 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_004624808:10,176,695...10,185,847
Ensembl chrNW_004624808:10,176,293...10,182,079 		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_004624829:3,485,635...3,498,431
Ensembl chrNW_004624829:3,485,708...3,518,447 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Angelman syndrome-like | 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_004624808:11,107,125...11,157,913 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_004624808:10,590,328...10,611,775 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_004624808:9,201,025...9,212,192
Ensembl chrNW_004624808:9,200,952...9,212,093 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    sensory system disease 6504
      eye disease 3358
        ocular motility disease 236
          Christianson syndrome 15
Path 2
Term Annotations click to browse term
  disease 14208
    disease of anatomical entity 13924
      nervous system disease 12255
        central nervous system disease 10971
          brain disease 10296
            disease of mental health 7369
              developmental disorder of mental health 5036
                specific developmental disorder 4162
                  intellectual disability 3978
                    X-Linked Intellectual Developmental Disorders 720
                      syndromic X-linked intellectual disability 534
                        Christianson syndrome 15
paths to the root