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ONTOLOGY REPORT - ANNOTATIONS


Term:Knobloch Syndrome
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Accession:DOID:9002033 term browser browse the term
Synonyms:exact_synonym: KNO;   KNO1;   KNOBLOCH SYNDROME 1;   Knobloch Syndrome, Type I;   Passos-Bueno syndrome;   Retinal Detachment and Occipital Encephalocele;   Retinal detachment occipital encephalocele
 primary_id: MESH:C537209;   RDO:0002998
 alt_id: OMIM:267750
For additional species annotation, visit the Alliance of Genome Resources.


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Knobloch Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 JBrowse link 19 46,005,055 46,167,912 RGD:8554872
G Col18a1 collagen type XVIII alpha 1 chain JBrowse link 20 12,225,202 12,332,858 RGD:7240710
RGD:8554872
G Slc19a1 solute carrier family 19 member 1 JBrowse link 20 12,334,675 12,354,517 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Knobloch Syndrome 3
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      Urogenital Diseases 3755
        Female Urogenital Diseases and Pregnancy Complications 1530
          Female Urogenital Diseases 1281
            female reproductive system disease 1277
              prolapse of female genital organ 149
                enterocele 149
                  Encephalocele 14
                    Knobloch Syndrome 3
paths to the root