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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: SON-RELATED CONDITION;   ZHU-TOKITA-TAKENOUCHI-KIM SYNDROME;   ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME;   ZTTKS
 primary_id: OMIM:617140


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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 chr11:30,919,834...30,933,150
Ensembl chr11:30,923,239...30,932,889 		JBrowse link
G Epcip exosomal polycystin 1 interacting protein 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 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 LOC120098363 small nucleolar RNA SNORA42/SNORA80 family ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr18:60,563,049...60,563,183
Ensembl chr18:60,563,049...60,563,183 		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 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)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SON-related condition | ClinVar Annotator: match by term: ZTTK syndrome		 OMIM
CTD
ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:25590979 PMID:25741868 PMID:25741875 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...30,269,447
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 21126
    syndrome 10839
      ZTTK Syndrome 26
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      nervous system disease 14065
        central nervous system disease 12403
          brain disease 11639
            disease of mental health 8308
              developmental disorder of mental health 5545
                specific developmental disorder 4507
                  intellectual disability 4291
                    ZTTK Syndrome 26
paths to the root