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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:Fraser syndrome 1
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Accession:DOID:0111405 term browser browse the term
Definition:A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21.21. (DO)
Synonyms:exact_synonym: CRYPTOPHTHALMOS SYNDROME;   FRAS1-RELATED CONDITION;   FRASRS1
 primary_id: OMIM:219000


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Fraser syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP DNA:mutations:multiple (human)
ClinVar Annotator: match by term: FRAS1-related condition | ClinVar Annotator: match by term: Fraser syndrome 1		 ClinVar
OMIM
RGD		 PMID:9536098 PMID:12766769 PMID:16199547 PMID:16894541 PMID:17163535 More... RGD:1598960 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269 		JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 IAGP ClinVar Annotator: match by term: Fraser syndrome 1 ClinVar PMID:9536098 PMID:17576681 PMID:18203166 PMID:25741868 PMID:26275891 More... NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131 		JBrowse link
G GRIP1 glutamate receptor interacting protein 1 IAGP ClinVar Annotator: match by term: Fraser syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162 		JBrowse link
G LOC126807088 CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:79402250-79403449 IAGP ClinVar Annotator: match by term: Fraser syndrome 1
ClinVar Annotator: match by term: FRAS1-related condition | ClinVar Annotator: match by term: Fraser syndrome 1		 ClinVar PMID:12766769 PMID:18671281 PMID:25741868 PMID:28492532 NCBI chr 4:78,481,096...78,482,295 JBrowse link
G LOC126807089 CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:79455131-79456330 IAGP ClinVar Annotator: match by term: Fraser syndrome 1
ClinVar Annotator: match by term: FRAS1-related condition | ClinVar Annotator: match by term: Fraser syndrome 1		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:78,533,977...78,535,176 JBrowse link
G LOC130009588 ATAC-STARR-seq lymphoblastoid silent region 5274 IAGP ClinVar Annotator: match by term: Fraser syndrome 1 ClinVar NCBI chr13:38,872,817...38,872,906 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18080
      Fraser syndrome 23
        Fraser syndrome 1 6
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32348
      musculoskeletal system disease 11647
        connective tissue disease 7450
          bone disease 5604
            bone development disease 3275
              dysostosis 857
                synostosis 555
                  syndactyly 183
                    Fraser syndrome 23
                      Fraser syndrome 1 6
paths to the root