Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Marfan Syndrome, Autosomal Recessive
go back to main search page
Accession:DOID:9007529 term browser browse the term
Synonyms:exact_synonym: RECESSIVE MARFANOID SYNDROME WITH SEVERE HERNIATION
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Marfan Syndrome, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Recessive Marfanoid Syndrome with Severe Herniation ClinVar PMID:28492532 PMID:32006683 NCBI chr14:113,202,382...113,294,993
Ensembl chr14:113,202,419...113,295,014
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Marfan syndrome, autosomal recessive ClinVar PMID:4750422 PMID:12938084 PMID:15161917 PMID:16342915 PMID:16571647 PMID:16677079 PMID:17568394 PMID:17701892 PMID:19839986 PMID:23278365 PMID:24033266 PMID:24793577 PMID:25741868 PMID:26272055 PMID:26787436 PMID:28492532 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    syndrome 8039
      Marfan syndrome 210
        Marfan Syndrome, Autosomal Recessive 2
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      musculoskeletal system disease 6419
        connective tissue disease 4426
          bone disease 3109
            bone development disease 1419
              Marfan syndrome 210
                Marfan Syndrome, Autosomal Recessive 2
paths to the root