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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:Knobloch Syndrome
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Accession:DOID:9002033 term browser browse the term
Synonyms:exact_synonym: KNO;   Passos-Bueno syndrome;   Retinal Detachment and Occipital Encephalocele;   retinal detachment, occipital encephalocele
 primary_id: MESH:C537209
 xref: GARD:380;   OMIM:PS267750


show annotations for term's descendants           Sort by:
Knobloch Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 ISO ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:21862674 PMID:23667181 PMID:28492532 NCBI chr19:41,686,951...41,840,035
Ensembl chr19:41,688,617...41,839,781 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Knobloch syndrome		 CTD
ClinVar		 PMID:1554013 PMID:9536098 PMID:10942434 PMID:12415512 PMID:14695535 More... NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:9677068 PMID:14695535 PMID:33693784 NCBI chr11:68,708,070...68,766,622
Ensembl chr11:68,707,969...68,768,816 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:1554013 PMID:9536098 PMID:12415512 PMID:14695535 PMID:17546652 More... NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972 		JBrowse link
Knobloch Syndrome Type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpk1 alpha-kinase 1 ISO ClinVar Annotator: match by term: Knobloch syndrome 1 ClinVar PMID:25741868 NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Knobloch syndrome 1 OMIM
ClinVar		 PMID:12415512 PMID:23667181 PMID:25456301 PMID:25741868 PMID:27259167 More... NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Knobloch syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972 		JBrowse link
Knobloch Syndrome Type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pak2 p21 (RAC1) activated kinase 2 ISO OMIM NCBI chr11:68,708,070...68,766,622
Ensembl chr11:68,707,969...68,768,816 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      Knobloch Syndrome 5
        Knobloch Syndrome Type I 3
        Knobloch Syndrome Type II 1
        Knobloch Syndrome Type III 0
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      Urogenital Diseases 4936
        Female Urogenital Diseases and Pregnancy Complications 2344
          Female Urogenital Diseases 1941
            female reproductive system disease 1938
              prolapse of female genital organ 176
                enterocele 176
                  Encephalocele 25
                    Knobloch Syndrome 5
                      Knobloch Syndrome Type I 3
                      Knobloch Syndrome Type II 1
                      Knobloch Syndrome Type III 0
paths to the root