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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.


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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 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: FCS syndrome
ClinVar Annotator: match by term: Costello 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, PMID:3304147, PMID:3537694, PMID:6092966, PMID:6287572, PMID:6287573, PMID:6288698, PMID:6330729, PMID:7177195, PMID:8605880, PMID:8960317, PMID:10716188, PMID:11150980, PMID:12210337, PMID:14608654, PMID:16155195, PMID:16170316, PMID:16329078, PMID:16372351, PMID:16443854, PMID:16474405, PMID:16835863, PMID:16881968, PMID:16921267, PMID:16969868, PMID:17054105, PMID:17211612, PMID:17250658, PMID:17384584, PMID:17412879, PMID:17468812, PMID:17703371, PMID:17979197, PMID:18039947, PMID:18042262, PMID:18247425, PMID:18470943, PMID:18642361, PMID:18978862, PMID:19132118, PMID:19206176, PMID:19213030, PMID:19255327, PMID:19371735, PMID:19382114, PMID:19669404, PMID:19773371, PMID:19995790, PMID:20112233, PMID:20658932, PMID:20660566, PMID:20859122, PMID:20949621, PMID:20979192, PMID:21344638, PMID:21403836, PMID:21438134, PMID:21495179, PMID:21779495, PMID:21834037, PMID:21850009, PMID:22087699, PMID:22190897, PMID:22317973, PMID:22318994, PMID:22488832, PMID:22499344, PMID:22683711, PMID:22926243, PMID:23093928, PMID:23321623, PMID:23335589, PMID:23406027, PMID:23429430, PMID:23487764, PMID:23751039, PMID:24033266, PMID:24129065, PMID:24169525, PMID:24224811, PMID:24259709, PMID:24728327, PMID:25157968, PMID:25326635, PMID:25346259, PMID:25668678, PMID:25741868, PMID:25742471, PMID:25914166, PMID:26561417, PMID:26619011, PMID:26806338, PMID:26916728, PMID:27102959, PMID:27195699, PMID:27589201, PMID:28027064, PMID:28139825, PMID:28371260, PMID:28390077, PMID:28492532, PMID:29073591, PMID:29493581, PMID:31775759, PMID:32313153, PMID:168335863, PMID:16881968, PMID:25914166, PMID:16170316 RGD:11070051, RGD:11085804, RGD:10412308 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17468812, PMID:17703371 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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, PMID:3304147, PMID:3537694, PMID:6092966, PMID:6287572, PMID:6287573, PMID:6288698, PMID:6330729, PMID:7177195, PMID:8605880, PMID:8960317, PMID:10716188, PMID:11150980, PMID:12210337, PMID:14608654, PMID:16155195, PMID:16170316, PMID:16329078, PMID:16372351, PMID:16443854, PMID:16474405, PMID:16835863, PMID:16881968, PMID:16921267, PMID:16969868, PMID:17054105, PMID:17211612, PMID:17250658, PMID:17384584, PMID:17412879, PMID:17979197, PMID:18039947, PMID:18042262, PMID:18247425, PMID:18470943, PMID:18642361, PMID:18978862, PMID:19206176, PMID:19213030, PMID:19255327, PMID:19371735, PMID:19382114, PMID:19669404, PMID:19773371, PMID:19995790, PMID:20112233, PMID:20658932, PMID:20660566, PMID:20859122, PMID:20949621, PMID:20979192, PMID:21344638, PMID:21403836, PMID:21438134, PMID:21495179, PMID:21779495, PMID:21834037, PMID:21850009, PMID:22087699, PMID:22190897, PMID:22317973, PMID:22318994, PMID:22488832, PMID:22499344, PMID:22683711, PMID:22926243, PMID:23093928, PMID:23321623, PMID:23335589, PMID:23406027, PMID:23429430, PMID:23487764, PMID:23751039, PMID:24033266, PMID:24129065, PMID:24169525, PMID:24224811, PMID:24259709, PMID:24728327, PMID:25157968, PMID:25326635, PMID:25346259, PMID:25668678, PMID:25741868, PMID:25742471, PMID:25914166, PMID:26561417, PMID:26619011, PMID:26806338, PMID:26916728, PMID:27102959, PMID:27195699, PMID:27589201, PMID:28027064, PMID:28139825, PMID:28371260, PMID:28390077, PMID:28492532, PMID:29073591, PMID:29493581, PMID:31775759, PMID:32313153, PMID:168335863 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr 8:69,134,218...69,722,573
Ensembl chr 8:69,134,223...69,164,758
JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
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, PMID:10617660, PMID:11432788, PMID:12860912, PMID:12881443, PMID:14563299, PMID:14636924, PMID:15246915, PMID:15958377, PMID:16115869, PMID:16199542, PMID:16715312, PMID:16777946, PMID:17101185, PMID:18533079, PMID:19033660, PMID:19150014, PMID:20031602, PMID:20031618, PMID:20038417, PMID:20624503, PMID:20800588, PMID:21310275, PMID:21511876, PMID:21683708, PMID:21846512, PMID:22144547, PMID:22500102, PMID:22857948, PMID:23074333, PMID:24033266, PMID:24055113, PMID:24418317, PMID:24503780, PMID:25524337, PMID:25611685, PMID:25637381, PMID:25668678, PMID:25741868, PMID:26183555, PMID:26507537, PMID:26681313, PMID:26743238, PMID:26914223, PMID:27022107, PMID:27483260, PMID:27600940, PMID:27930701, PMID:28193612, PMID:28492532, PMID:28771489, PMID:29121657 NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      RASopathy 75
        Costello syndrome 8
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                Costello syndrome 8
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.