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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 1
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Accession:DOID:14775 term browser browse the term
Definition:An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24. (DO)
Synonyms:exact_synonym: BCS1;   CORNEAL FRAGILITY KERATOGLOBUS, BLUE SCLERAE AND JOINT HYPERMOBILITY;   Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility;   Dysgenesis Mesodermalis Corneae et Sclerae;   EDS6B;   Ehlers-Danlos Syndrome, Type VIB;   Ehlers-Danlos syndrome 6B;   ZNF469-RELATED CONDITION;   fragilitas oculi with joint hyperextensibility
 primary_id: MESH:C536192
 alt_id: OMIM:229200
 xref: GARD:1019;   NCI:C125700
For additional species annotation, visit the Alliance of Genome Resources.


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brittle cornea syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm5 PR/SET domain 5 ISO 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 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301 		JBrowse link
G Zfp469 zinc finger protein 469 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:229200
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
CTD
MouseDO
ClinVar		 PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 More... NCBI chr19:50,282,337...50,324,010 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Ehlers-Danlos syndrome 253
        Brittle Cornea Syndrome 2
          brittle cornea syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Hemic and Lymphatic Diseases 3853
        hematopoietic system disease 3344
          blood coagulation disease 959
            hemorrhagic disease 913
              vascular hemostatic disease 485
                Ehlers-Danlos syndrome 253
                  Brittle Cornea Syndrome 2
                    brittle cornea syndrome 1 2
paths to the root