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Zaki syndrome - Ontology Report - Rat Genome Database

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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:Zaki syndrome
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Accession:DOID:0070473 term browser browse the term
Definition:A syndrome characterized by developmental delay, progressive microcephaly, short stature, and dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate that has_material_basis_in homozygous or compound heterozygous mutation in the WLS gene on chromosome 1p31.3. Additional variable features may include ocular, skeletal, cardiac, and renal anomalies. (DO)
Synonyms:exact_synonym: MICROCEPHALY, PROGRESSIVE, WITH DEVELOPMENTAL DELAY, CUPPED EARS, AND DYSMORPHIC FEATURES;   WLS SYNDROME;   WLS-RELATED CONDITION;   ZKS
 primary_id: MIM:619648
 alt_id: DOID:9001208

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Zaki syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H GNG12-AS1 GNG12, DIRAS3 and WLS antisense RNA 1 IAGP ClinVar Annotator: match by term: Zaki syndrome
ClinVar Annotator: match by term: WLS-related condition		 ClinVar PMID:25741868 PMID:28492532 PMID:34587386 NCBI chr 1:67,832,288...68,202,987
Ensembl chr 1:67,832,193...68,202,987 		JBrowse link
G N Wls Wnt ligand secretion mediator ISO ClinVar Annotator: match by term: WLS-related condition | ClinVar Annotator: match by term: Zaki syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34587386 NCBI chrNW_004624742:27,481,480...27,570,439
Ensembl chrNW_004624742:27,481,427...27,570,439 		JBrowse link
G G WLS Wnt ligand secretion mediator ISO ClinVar Annotator: match by term: WLS-related condition | ClinVar Annotator: match by term: Zaki syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34587386 NCBI chr20:64,879,594...64,987,460
Ensembl chr20:64,879,864...64,977,038 		JBrowse link
G P WLS Wnt ligand secretion mediator ISO ClinVar Annotator: match by term: WLS-related condition | ClinVar Annotator: match by term: Zaki syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34587386 NCBI chr 6:144,242,639...144,529,659
Ensembl chr 6:144,399,926...144,555,880 		JBrowse link
G S Wls Wnt ligand secretion mediator ISO ClinVar Annotator: match by term: WLS-related condition | ClinVar Annotator: match by term: Zaki syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34587386 NCBI chrNW_004936591:3,537,981...3,639,774
Ensembl chrNW_004936591:3,537,981...3,639,774 		JBrowse link
G D WLS Wnt ligand secretion mediator ISO ClinVar Annotator: match by term: WLS-related condition | ClinVar Annotator: match by term: Zaki syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34587386 NCBI chr 6:77,053,242...77,146,549
Ensembl chr 6:77,053,237...77,317,761 		JBrowse link
G B WLS Wnt ligand secretion mediator ISO ClinVar Annotator: match by term: WLS-related condition | ClinVar Annotator: match by term: Zaki syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34587386 NCBI chr 1:67,336,009...67,470,265
Ensembl chr 1:69,318,742...69,425,652 		JBrowse link
G C Wls Wnt ligand secretion mediator ISO ClinVar Annotator: match by term: WLS-related condition | ClinVar Annotator: match by term: Zaki syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34587386 NCBI chrNW_004955423:23,374,401...23,465,308
Ensembl chrNW_004955423:23,374,401...23,466,475 		JBrowse link
G R Wls Wnt ligand secretion mediator ISO
ISS		 ClinVar Annotator: match by term: WLS-related condition | ClinVar Annotator: match by term: Zaki syndrome
OMIM:619648		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:28492532 PMID:34587386 NCBI chr 2:251,590,653...251,705,991
Ensembl chr 2:248,931,903...249,048,298 		JBrowse link
G M Wls wntless WNT ligand secretion mediator ISO
IAGP		 ClinVar Annotator: match by term: WLS-related condition | ClinVar Annotator: match by term: Zaki syndrome
OMIM:619648		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:28492532 PMID:34587386 NCBI chr 3:159,545,287...159,644,302
Ensembl chr 3:159,545,309...159,644,300 		JBrowse link
G H WLS Wnt ligand secretion mediator IAGP
ISS		 ClinVar Annotator: match by term: WLS-related condition
ClinVar Annotator: match by term: Zaki syndrome
OMIM:619648		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:28492532 PMID:34587386 NCBI chr 1:68,098,459...68,232,546
Ensembl chr 1:68,098,473...68,233,120 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      Zaki syndrome 11
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            autosomal genetic disease 112806
              autosomal dominant disease 157513
                complex cortical dysplasia with other brain malformations 16799
                  Malformations of Cortical Development, Group I 14271
                    microcephaly 11739
                      Zaki syndrome 11
paths to the root