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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;   KNO1;   Knobloch Syndrome, Type I;   Knobloch syndrome 1;   Passos-Bueno syndrome;   Retinal Detachment and Occipital Encephalocele;   retinal detachment, occipital encephalocele
 primary_id: MESH:C537209
 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 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 synonym: Knobloch syndrome 1 ClinVar PMID:21862674, PMID:23667181 NCBI chr19:46,005,055...46,167,912
Ensembl chr19:46,005,277...46,101,250
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Knobloch syndrome
ClinVar Annotator: match by term: Knobloch syndrome 1
ClinVar Annotator: match by OMIM:267750
ClinVar Annotator: match by term: RETINAL DETACHMENT AND OCCIPITAL ENCEPHALOCELE
OMIM
ClinVar
PMID:1554013, PMID:10942434, PMID:12415512, PMID:14695535, PMID:17546652, PMID:17975799, PMID:19160445, PMID:19390655, PMID:20799329, PMID:20979194, PMID:21862674, PMID:21937992, PMID:23667181, PMID:24033266, PMID:25456301, PMID:25741868, PMID:26467025, PMID:28041643, PMID:28492532, PMID:29977801, PMID:30007336, PMID:30311386 NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Knobloch syndrome 1 ClinVar PMID:1554013, PMID:14695535, PMID:19390655, PMID:21862674, PMID:23667181, PMID:24033266, PMID:25456301, PMID:25741868, PMID:26467025, PMID:28041643, PMID:28492532, PMID:29977801, PMID:30311386 NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Knobloch Syndrome 3
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Urogenital Diseases 4142
        Female Urogenital Diseases and Pregnancy Complications 1893
          Female Urogenital Diseases 1587
            female reproductive system disease 1583
              prolapse of female genital organ 187
                enterocele 187
                  Encephalocele 17
                    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.