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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:Brittle Cornea Syndrome
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Accession:DOID:9005468 term browser browse the term
Synonyms:xref: OMIM:PS229200


show annotations for term's descendants           Sort by:
Brittle Cornea Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZNF469 zinc finger protein 469 IAGP ClinVar Annotator: match by term: Brittle cornea syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29228253 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757 		JBrowse link
brittle cornea syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130059718 ATAC-STARR-seq lymphoblastoid silent region 7847 IAGP ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: ZNF469-related condition
ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility		 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:88,430,596...88,430,755 JBrowse link
G LOC130059719 ATAC-STARR-seq lymphoblastoid silent region 7848 IAGP ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE
ClinVar Annotator: match by term: Brittle cornea syndrome 1		 ClinVar PMID:5755738 PMID:19661234 PMID:25741868 PMID:28492532 NCBI chr16:88,437,450...88,437,599 JBrowse link
G PRDM5 PR/SET domain 5 IAGP ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,922,870 		JBrowse link
G ZNF469 zinc finger protein 469 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Brittle cornea syndrome 1
ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: ZNF469-related condition
ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: EDS6B | ClinVar Annotator: match by term: ZNF469-related condition
OMIM:229200
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
OMIM
CTD		 PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 More... NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757 		JBrowse link
brittle cornea syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRDM5 PR/SET domain 5 IAGP
EXP		 ClinVar Annotator: match by term: Brittle cornea syndrome 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:8458232 PMID:9536098 PMID:17576681 PMID:21664999 PMID:22122778 More... NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,922,870 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      Ehlers-Danlos syndrome 297
        Brittle Cornea Syndrome 4
          brittle cornea syndrome 1 4
          brittle cornea syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Hemic and Lymphatic Diseases 5702
        hematopoietic system disease 4988
          blood coagulation disease 1700
            hemorrhagic disease 1541
              vascular hemostatic disease 547
                Ehlers-Danlos syndrome 297
                  Brittle Cornea Syndrome 4
                    brittle cornea syndrome 1 4
                    brittle cornea syndrome 2 1
paths to the root