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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;   Fragilitas oculi with joint hyperextensibility
 primary_id: MESH:C536192
 alt_id: DOID:9000309;   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 Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIB
ClinVar Annotator: match by term: Brittle cornea syndrome 1
ClinVar PMID:1184396, PMID:9084938, PMID:10766984, PMID:11370633, PMID:12508273, PMID:16158441, PMID:20004762, PMID:20503305, PMID:20533528, PMID:20842734, PMID:21744491, PMID:22581468, PMID:22987394, PMID:25741868, PMID:26373698, PMID:26872206, PMID:26925854, PMID:28238810, PMID:28492532 NCBI chr 3:110,734,105...110,736,162
Ensembl chr 3:110,734,105...110,736,162
JBrowse link
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 AND joint hypermobility
ClinVar PMID:28492532 NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
ClinVar Annotator: match by OMIM:229200
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:5755738, PMID:7387950, PMID:18452888, PMID:19661234, PMID:20938016, PMID:25741868, PMID:30311386 NCBI chr19:54,843,864...55,083,935 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Ehlers-Danlos syndrome 104
        Brittle Cornea Syndrome 3
          brittle cornea syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Hemic and Lymphatic Diseases 2045
        hematopoietic system disease 1641
          blood coagulation disease 623
            hemorrhagic disease 610
              vascular hemostatic disease 298
                Ehlers-Danlos syndrome 104
                  Brittle Cornea Syndrome 3
                    brittle cornea syndrome 1 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.