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
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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 14875
    syndrome 4220
      Knobloch Syndrome 3
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Urogenital Diseases 3874
        Female Urogenital Diseases and Pregnancy Complications 1644
          Female Urogenital Diseases 1396
            female reproductive system disease 1392
              prolapse of female genital organ 149
                enterocele 149
                  Encephalocele 14
                    Knobloch Syndrome 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.