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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 IAGP ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:21862674 PMID:23667181 PMID:28492532 NCBI chr16:77,282,128...77,435,034
Ensembl chr16:77,247,813...77,435,034 		JBrowse link
G BNAT1 breast cancer associated ESR1 regulating natural antisense transcript 1 IAGP ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:10942434 PMID:12415512 PMID:16199547 PMID:25456301 PMID:25741868 More... NCBI chr21:45,403,806...45,406,362 JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain IAGP
EXP		 ClinVar Annotator: match by term: Knobloch syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:1554013 PMID:9536098 PMID:10942434 PMID:12415512 PMID:14695535 More... NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720 		JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 IAGP ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:9677068 PMID:14695535 PMID:33693784 NCBI chr 3:196,739,857...196,832,647
Ensembl chr 3:196,739,857...196,832,647 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 IAGP ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:1554013 PMID:9536098 PMID:12415512 PMID:14695535 PMID:17546652 More... NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365 		JBrowse link
Knobloch Syndrome Type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BNAT1 breast cancer associated ESR1 regulating natural antisense transcript 1 IAGP ClinVar Annotator: match by term: COL18A1-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr21:45,403,806...45,406,362 JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain IAGP ClinVar Annotator: match by term: COL18A1-related condition
ClinVar Annotator: match by term: COL18A1-related condition | ClinVar Annotator: match by term: Knobloch syndrome 1		 OMIM
ClinVar		 PMID:9536098 PMID:12415512 PMID:14695535 PMID:16199547 PMID:17576681 More... NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 IAGP ClinVar Annotator: match by term: Knobloch syndrome 1
ClinVar Annotator: match by term: COL18A1-related condition | ClinVar Annotator: match by term: Knobloch syndrome 1		 ClinVar PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More... NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365 		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 IAGP ClinVar Annotator: match by term: Knobloch syndrome 2 OMIM
ClinVar		 PMID:25741868 NCBI chr 3:196,739,857...196,832,647
Ensembl chr 3:196,739,857...196,832,647 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18073
      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 41189
    disease of anatomical entity 32344
      Urogenital Diseases 6454
        Female Urogenital Diseases and Pregnancy Complications 2996
          Female Urogenital Diseases 2464
            female reproductive system disease 2461
              prolapse of female genital organ 258
                enterocele 258
                  Encephalocele 35
                    Knobloch Syndrome 5
                      Knobloch Syndrome Type I 3
                      Knobloch Syndrome Type II 1
                      Knobloch Syndrome Type III 0
paths to the root