Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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:cardiofaciocutaneous syndrome
go back to main search page
Accession:DOID:0060233 term browser browse the term
Definition:A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. (DO)
Synonyms:exact_synonym: CFC syndrome;   CFCS;   cardio-facial-cutaneous syndrome;   cardio-facio-cutaneous syndrome
 primary_id: MESH:C535579
 xref: GARD:9146;   OMIM:PS115150;   ORDO:1340
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
cardiofaciocutaneous 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 DNA:mutations:cds:multiple(human)
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
ClinVar Annotator: match by term: CFC syndrome
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1
DNA:mutation:cds:p.Q241R(mouse)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:115150
ClinVar
CTD
PMID:4386970, PMID:5771505, PMID:8042262, PMID:12068308, PMID:12198537, PMID:12438234, PMID:12447372, PMID:12460918, PMID:12460919, PMID:12619120, PMID:12644542, PMID:12670889, PMID:12794760, PMID:12960123, PMID:14513361, PMID:14602780, PMID:14678966, PMID:14679157, PMID:15001635, PMID:15035987, PMID:15126572, PMID:15181070, PMID:15342696, PMID:15356022, PMID:15386408, PMID:15687339, PMID:15998781, PMID:16015629, PMID:16174717, PMID:16187918, PMID:16372351, PMID:16439621, PMID:16474404, PMID:16523510, PMID:16772349, PMID:16804887, PMID:16825433, PMID:17366577, PMID:17374713, PMID:17483702, PMID:17488796, PMID:17496923, PMID:17551924, PMID:17603483, PMID:17703371, PMID:17704260, PMID:17785355, PMID:18039235, PMID:18042262, PMID:18186519, PMID:18398503, PMID:18413255, PMID:18451217, PMID:18456719, PMID:18470943, PMID:18794803, PMID:18854871, PMID:18953432, PMID:19001320, PMID:19010912, PMID:19018267, PMID:19206169, PMID:19238210, PMID:19376813, PMID:19404918, PMID:19416762, PMID:19537845, PMID:19561230, PMID:19735675, PMID:20008640, PMID:20141835, PMID:20186801, PMID:20350999, PMID:20395089, PMID:20413299, PMID:20523244, PMID:20619739, PMID:20630094, PMID:20735442, PMID:20818844, PMID:20823850, PMID:20857202, PMID:21063443, PMID:21107320, PMID:21107323, PMID:21129611, PMID:21156289, PMID:21163703, PMID:21426297, PMID:21483012, PMID:21502544, PMID:21639808, PMID:21641636, PMID:21683865, PMID:21784453, PMID:21871821, PMID:21975775, PMID:22038996, PMID:22048237, PMID:22113612, PMID:22180495, PMID:22190897, PMID:22281684, PMID:22301711, PMID:22310681, PMID:22351686, PMID:22356324, PMID:22389471, PMID:22448344, PMID:22495831, PMID:22536370, PMID:22586120, PMID:22608338, PMID:22649091, PMID:22663011, PMID:22735384, PMID:22743296, PMID:22773810, PMID:22805292, PMID:22876591, PMID:22972589, PMID:22997239, PMID:23020132, PMID:23031422, PMID:23093928, PMID:23251002, PMID:23273605, PMID:23302800, PMID:23312806, PMID:23325582, PMID:23470635, PMID:23524406, PMID:23549875, PMID:23614898, PMID:23685455, PMID:23763990, PMID:23812671, PMID:23833300, PMID:23845441, PMID:23875798, PMID:23907581, PMID:23918947, PMID:24033266, PMID:24037001, PMID:24088041, PMID:24107445, PMID:24112392, PMID:24163374, PMID:24388723, PMID:24409384, PMID:24508103, PMID:24512911, PMID:24576830, PMID:24583796, PMID:24586605, PMID:24594804, PMID:24670642, PMID:24717435, PMID:24719372, PMID:24775816, PMID:24918823, PMID:25024077, PMID:25035421, PMID:25037139, PMID:25079330, PMID:25157968, PMID:25265492, PMID:25265494, PMID:25348715, PMID:25370471, PMID:25399551, PMID:25463315, PMID:25741868, PMID:25950823, PMID:25989278, PMID:26619011, PMID:26633545, PMID:26678033, PMID:27404270, PMID:27478040, PMID:27480103, PMID:27521173, PMID:28404629, PMID:28492532, PMID:28524057, PMID:28854169, PMID:28891408, PMID:28911804, PMID:29084544, PMID:29493581, PMID:29925953, PMID:30290804, PMID:30311386, PMID:30820351, PMID:31779674, PMID:31891627, PMID:16474404, PMID:25035421, PMID:21383153 RGD:1600471, RGD:11352608, RGD:11567236 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 CTD Direct Evidence: marker/mechanism CTD PMID:17703371 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 DNA:missense mutations:CDS:p.G60R, p.D153V (human)
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16474404, PMID:17056636, PMID:17703371, PMID:20186801, PMID:20949621, PMID:21797849, PMID:23059812, PMID:24033266, PMID:26242988, PMID:28492532, PMID:28650561, PMID:16474404 RGD:1600471 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: CARDIOFACIOCUTANEOUS SYNDROME 1
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
ClinVar Annotator: match by term: CFC syndrome
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1804226, PMID:12239713, PMID:12529707, PMID:16439621, PMID:16474404, PMID:17366577, PMID:17551924, PMID:17567882, PMID:17703371, PMID:17704260, PMID:17981815, PMID:18039235, PMID:18042262, PMID:18060073, PMID:18413255, PMID:18632602, PMID:18854871, PMID:19156172, PMID:19376813, PMID:19411838, PMID:19915144, PMID:20354455, PMID:20958325, PMID:21062266, PMID:21107320, PMID:21654472, PMID:22197931, PMID:22327936, PMID:22589294, PMID:22753777, PMID:22848035, PMID:23093928, PMID:23444215, PMID:23569304, PMID:24033266, PMID:24101678, PMID:24236184, PMID:24637312, PMID:24803665, PMID:25049390, PMID:25157968, PMID:25326635, PMID:25423878, PMID:25741868, PMID:26350204, PMID:26619011, PMID:26795593, PMID:27862862, PMID:28049852, PMID:28492532, PMID:29493581, PMID:29643386, PMID:30311386, PMID:30763456 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 ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16439621, PMID:17703371, PMID:17981815, PMID:18039235, PMID:18042262, PMID:18413255, PMID:20358587, PMID:24033266, PMID:24265153, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29493581 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 ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17703371 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Snapc5 small nuclear RNA activating complex, polypeptide 5 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar NCBI chr 8:69,127,708...69,131,539
Ensembl chr 8:69,127,708...69,131,539
JBrowse link
cardiofaciocutaneous syndrome 1 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 ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar
OMIM
PMID:3265306, PMID:4386970, PMID:5771505, PMID:12068308, PMID:15035987, PMID:16372351, PMID:16439621, PMID:16474404, PMID:16523510, PMID:16804887, PMID:16825433, PMID:17366577, PMID:17483702, PMID:17551924, PMID:17603482, PMID:17603483, PMID:17703371, PMID:17704260, PMID:18039235, PMID:18042262, PMID:18186519, PMID:18413255, PMID:18456719, PMID:18470943, PMID:18794803, PMID:18854871, PMID:18953432, PMID:19206169, PMID:19376813, PMID:19416762, PMID:19537845, PMID:20186801, PMID:20301365, PMID:20350999, PMID:20523244, PMID:21063443, PMID:21129611, PMID:21784453, PMID:22190897, PMID:22301711, PMID:22310681, PMID:22495831, PMID:22876591, PMID:23093928, PMID:23273605, PMID:23312806, PMID:23875798, PMID:23950000, PMID:24033266, PMID:24037001, PMID:24088041, PMID:24409384, PMID:24451042, PMID:24719372, PMID:24728327, PMID:24775816, PMID:24803665, PMID:25035421, PMID:25157968, PMID:25463315, PMID:25741868, PMID:26619011, PMID:26633545, PMID:28404629, PMID:28492532, PMID:28650561, PMID:28911804, PMID:29907801, PMID:30290804, PMID:30311386 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:8234268, PMID:17056636, PMID:18958496, PMID:21784453, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:17366577, PMID:24719372, PMID:25326637, PMID:28492532 NCBI chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
JBrowse link
cardiofaciocutaneous syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 2
ClinVar Annotator: match by OMIM:615278
OMIM
ClinVar
PMID:7877967, PMID:8246952, PMID:16474404, PMID:16474405, PMID:16773572, PMID:16825433, PMID:17056636, PMID:17551339, PMID:17601930, PMID:17704260, PMID:17875937, PMID:17875939, PMID:18386799, PMID:18456719, PMID:19467855, PMID:20949621, PMID:21062266, PMID:21063026, PMID:21079152, PMID:21396583, PMID:21784453, PMID:21797849, PMID:21871821, PMID:23059812, PMID:24033266, PMID:24240292, PMID:24703799, PMID:24803665, PMID:25180280, PMID:25326637, PMID:25644510, PMID:25741868, PMID:26242988, PMID:26249544, PMID:28492532, PMID:28650561 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
cardiofaciocutaneous syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map2k1 mitogen activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 3 ClinVar
OMIM
PMID:1804226, PMID:12239713, PMID:12529707, PMID:16439621, PMID:16474404, PMID:17366577, PMID:17551924, PMID:17567882, PMID:17704260, PMID:17981815, PMID:18039235, PMID:18042262, PMID:18060073, PMID:18413255, PMID:18632602, PMID:18854871, PMID:19156172, PMID:19376813, PMID:19411838, PMID:19915144, PMID:20958325, PMID:21062266, PMID:21654472, PMID:22197931, PMID:22327936, PMID:22588879, PMID:22589294, PMID:22753777, PMID:22848035, PMID:23093928, PMID:24033266, PMID:24101678, PMID:24236184, PMID:24637312, PMID:25049390, PMID:25157968, PMID:25326635, PMID:25423878, PMID:25741868, PMID:25741869, PMID:26350204, PMID:26619011, PMID:26795593, PMID:27862862, PMID:28049852, PMID:28492532, PMID:30311386, PMID:30763456 NCBI chr 8:69,134,218...69,722,573
Ensembl chr 8:69,134,223...69,164,758
JBrowse link
cardiofaciocutaneous syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 4 OMIM
ClinVar
PMID:16439621, PMID:17366577, PMID:17981815, PMID:18042262, PMID:18413255, PMID:19156172, PMID:19376813, PMID:20358587, PMID:21178588, PMID:22753777, PMID:24033266, PMID:24265153, PMID:24803665, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29493581, PMID:29696744 NCBI chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      ectodermal dysplasia 250
        cardiofaciocutaneous syndrome 7
          cardiofaciocutaneous syndrome 1 3
          cardiofaciocutaneous syndrome 2 1
          cardiofaciocutaneous syndrome 3 1
          cardiofaciocutaneous syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Skin Abnormalities 658
              ectodermal dysplasia 250
                cardiofaciocutaneous syndrome 7
                  cardiofaciocutaneous syndrome 1 3
                  cardiofaciocutaneous syndrome 2 1
                  cardiofaciocutaneous syndrome 3 1
                  cardiofaciocutaneous syndrome 4 1
paths to the root

NHLBI Logo

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