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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
 primary_id: MESH:D056685
 alt_id: OMIM:218040
 xref: GARD:1550;   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 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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
OMIM
CTD
MouseDO
ClinVar
RGD
PMID:1362901 PMID:2105486 PMID:2674130 PMID:2999610 PMID:3004741 More... RGD:10412308, RGD:11085804, RGD:11070051 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17468812 PMID:17703371 NCBI chr 4:178,185,418...178,218,484 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 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 8:64,683,449...64,754,900
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 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718
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 21128
    syndrome 10833
      RASopathy 257
        Costello syndrome 9
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal dominant disease 6235
                Costello syndrome 9
paths to the root