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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
For additional species annotation, visit the Alliance of Genome Resources.


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 ClinVar Annotator: match by term: Costello syndrome
ClinVar Annotator: match by term: FCS syndrome
DNA:missense mutation:C.34G>A(p.G12S)(human)
DNA:missense mutation:cds:c.179G>A( p.G60D)(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:218040
DNA:snps:missense mutations:cds:multiple (human)
OMIM
ClinVar
CTD
PMID:2105486 PMID:2674130 PMID:2999610 PMID:3004741 PMID:3283542 More... RGD:11070051, RGD:11085804, RGD:10412308 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:2105486 PMID:2674130 PMID:2999610 PMID:3004741 PMID:3283542 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 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 17207
    syndrome 8126
      RASopathy 87
        Costello syndrome 9
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal dominant disease 4462
                Costello syndrome 9
paths to the root