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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:ZTTK Syndrome
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Accession:DOID:9005698 term browser browse the term
Definition:A severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. (OMIM)
Synonyms:exact_synonym: ZHU-TOKITA-TAKENOUCHI-KIM SYNDROME;   ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME;   ZTTKS
 primary_id: OMIM:617140
For additional species annotation, visit the Alliance of Genome Resources.



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ZTTK Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5po ATP synthase peripheral stalk subunit OSCP ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592
JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346
JBrowse link
G Cryzl1 crystallin zeta like 1 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,933,140...30,977,936
Ensembl chr11:30,933,144...30,977,867
JBrowse link
G Dnajc28 DnaJ heat shock protein family (Hsp40) member C28 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,855,566...30,858,386
Ensembl chr11:30,853,526...30,858,441
JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,911,616...30,933,150
Ensembl chr11:30,923,239...30,932,889
JBrowse link
G Eva1c eva-1 homolog C ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,089,510...30,163,596
Ensembl chr11:30,089,365...30,163,596
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
JBrowse link
G Ifnar1 interferon alpha and beta receptor subunit 1 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
JBrowse link
G Ifnar2 interferon alpha and beta receptor subunit 2 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,613,576...30,645,958
Ensembl chr11:30,613,767...30,668,124
JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,779,733...30,798,005
Ensembl chr11:30,779,733...30,798,005
JBrowse link
G Il10rb interleukin 10 receptor subunit beta ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074
JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
JBrowse link
G LOC120095419 small nucleolar RNA SNORA42/SNORA80 family ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr10:36,408,297...36,408,432
Ensembl chr10:36,408,297...36,408,432
JBrowse link
G Mis18a MIS18 kinetochore protein A ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:29,968,030...29,981,058
Ensembl chr11:29,967,701...29,981,062
JBrowse link
G Mrap melanocortin 2 receptor accessory protein ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024
JBrowse link
G Mrps6 mitochondrial ribosomal protein S6 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:31,295,358...31,348,483
Ensembl chr11:31,295,614...31,348,484
JBrowse link
G Olig1 oligodendrocyte transcription factor 1 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,514,379...30,516,521
Ensembl chr11:30,514,379...30,516,521
JBrowse link
G Olig2 oligodendrocyte transcription factor 2 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,475,510...30,478,886
Ensembl chr11:30,475,398...30,480,152
JBrowse link
G Paxbp1 PAX3 and PAX7 binding protein 1 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,272,037...30,301,504
Ensembl chr11:30,272,037...30,301,648
JBrowse link
G RGD1562726 similar to Putative protein C21orf62 homolog ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,307,842...30,325,829
Ensembl chr11:30,310,350...30,325,439
JBrowse link
G Slc5a3 solute carrier family 5 member 3 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883
JBrowse link
G Son SON DNA and RNA binding protein ISO DNA:frameshift mutation:cds:p.Ala1340GlnfsTer26|p.Asp1640GlyfsTer7 (human)
DNA:missense mutations:exon 3:multiple (human)
DNA:missense mutations:exon 3,4:multiple (human)
ClinVar Annotator: match by term: ZTTK syndrome
OMIM
ClinVar
RGD
PMID:25590979 PMID:25741868 PMID:25741875 PMID:27256762 PMID:27545676 More... RGD:155641263, RGD:11560664, RGD:11560855 NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,192,629...30,269,277
Ensembl chr11:30,192,629...30,269,220
JBrowse link
G Tmem50b transmembrane protein 50B ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,804,835...30,837,675
Ensembl chr11:30,804,837...30,837,661
JBrowse link
G Urb1 URB1 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,004,539...30,065,315
Ensembl chr11:30,004,539...30,065,363
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      ZTTK Syndrome 26
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        central nervous system disease 11414
          brain disease 10710
            disease of mental health 7594
              developmental disorder of mental health 4927
                specific developmental disorder 4191
                  intellectual disability 3995
                    ZTTK Syndrome 26
paths to the root