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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:Costello syndrome
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Accession:DOID:0050469 term browser browse the term
Definition:A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. (DO)
Synonyms:exact_synonym: CSTLO;   FCS syndrome;   FCS syndromes;   faciocutaneoskeletal syndrome;   faciocutaneoskeletal syndromes
 narrow_synonym: CMEMS;   congenital myopathy with excess of muscle spindles
 xref: GARD:1550;   MESH:D056685;   MIM:218040;   MONDO:0009026;   NCI:C84652


show annotations for term's descendants           Sort by:
Costello syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Costello syndrome 		CTD
ClinVar		 PMID:17703371 PMID:28492532 NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Cdhr5 cadherin-related family member 5 ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr 1:205,802,686...205,811,184
Ensembl chr 1:196,373,112...196,381,543 		JBrowse link
G Cend1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr 1:196,525,153...196,528,152
Ensembl chr 1:196,523,920...196,528,302 		JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541 		JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr 1:205,825,937...205,829,124
Ensembl chr 1:196,396,366...196,399,553 		JBrowse link
G Eps8l2 EPS8 signaling adaptor L2 ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr 1:196,446,260...196,471,544
Ensembl chr 1:196,446,287...196,471,541 		JBrowse link
G Gatd1 glutamine amidotransferase class 1 domain containing 1 ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr 1:196,504,533...196,512,561
Ensembl chr 1:196,504,833...196,512,551 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO
ISS 		DNA:snps:missense mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:c.179G>A( p.G60D)(human)
DNA:missense mutation:C.34G>A(p.G12S)(human)
OMIM:218040
ClinVar Annotator: match by term: Costello syndrome | ClinVar Annotator: match by term: FCS SYNDROME | ClinVar Annotator: match by term: FCS syndrome 		OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:1362901 PMID:2105486 PMID:2674130 PMID:2999610 PMID:3004741 More... RGD:10412308, RGD:11085804, RGD:11070051 NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr 1:196,367,380...196,370,943
Ensembl chr 1:196,367,361...196,370,832 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17468812 PMID:17703371 NCBI chr 4:179,916,255...179,949,613 JBrowse link
G Lmntd2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr 1:196,315,112...196,320,880
Ensembl chr 1:196,315,115...196,319,156 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Costello syndrome | ClinVar Annotator: match by term: FCS SYNDROME | ClinVar Annotator: match by term: FCS syndrome ClinVar PMID:1362901 PMID:2105486 PMID:2674130 PMID:2999610 PMID:3004741 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr 8:73,578,747...73,650,184
Ensembl chr 8:64,683,449...64,755,147 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr 7:9,241,449...9,264,216
Ensembl chr 7:8,580,905...8,610,243 		JBrowse link
G Mir210 microRNA 210 ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr 1:205,755,923...205,756,032
Ensembl chr 1:196,326,337...196,326,454 		JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892 		JBrowse link
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699 		JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr 1:205,982,279...205,987,361
Ensembl chr 1:196,552,723...196,557,805 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rassf7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr 1:196,319,600...196,323,787
Ensembl chr 1:196,320,902...196,323,770 		JBrowse link
G Rplp2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr 1:205,975,598...205,978,192
Ensembl chr 1:196,546,352...196,548,645 		JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr 1:196,382,857...196,383,668
Ensembl chr 1:196,382,856...196,383,658 		JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331 		JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr 3:124,437,230...124,504,358
Ensembl chr 3:103,983,072...104,049,718 		JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974 		JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr 1:196,435,999...196,444,368
Ensembl chr 1:196,436,003...196,444,367
Ensembl chr 1:196,436,003...196,444,367 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:2946667 PMID:7898523 PMID:10085122 PMID:10405326 PMID:10610467 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    syndrome 11406
      RASopathy 338
        Costello syndrome 27
Path 2
Term Annotations click to browse term
  disease 19143
    Developmental Disease 14670
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10966
            autosomal genetic disease 10454
              autosomal dominant disease 6802
                Costello syndrome 27
paths to the root