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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:cardiofaciocutaneous syndrome
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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;   NCI:C84617;   OMIM:PS115150;   ORDO:1340



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
ISS
DNA:mutations:cds:multiple(human)
ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
DNA:mutation:cds:p.Q241R(mouse)
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
RGD
PMID:2500657 PMID:4386970 PMID:5771505 PMID:8042262 PMID:11313766 More... RGD:1600471, RGD:11352608, RGD:11567236 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 CTD Direct Evidence: marker/mechanism CTD PMID:17703371 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 DNA:missense mutations:CDS:p.G60R, p.D153V (human)
ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:8234268 PMID:16474404 PMID:16474405 PMID:16987887 PMID:17056636 More... RGD:1600471 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
CTD
MouseDO
ClinVar
PMID:1804226 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 More... 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
ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
CTD
ClinVar
PMID:16439621 PMID:17703371 PMID:17981815 PMID:18039235 PMID:18042262 More... 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
ClinVar Annotator: match by term: CFC syndrome
CTD
ClinVar
PMID:17703371 PMID:25741868 PMID:28492532 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar PMID:28492532 NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
JBrowse link
G Snapc5 small nuclear RNA activating complex, polypeptide 5 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964
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 OMIM
ClinVar
PMID:2102266 PMID:2500657 PMID:2851224 PMID:3265306 PMID:4386970 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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 More... NCBI chr 4:178,185,418...178,218,484 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:25741868 PMID:28492532 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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 OMIM
ClinVar
PMID:8246952 PMID:12110640 PMID:14982869 PMID:16474404 PMID:16474405 More... NCBI chr 4:178,185,418...178,218,484 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 Annotator: match by term: MAP2K1-Related Disorder OMIM
ClinVar
PMID:1804226 PMID:12370306 PMID:12612583 PMID:15917206 PMID:16199547 More... NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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 DNA:missense mutation:CDS:p.P128Q (human)
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 4 | ClinVar Annotator: match by term: MAP2K2-related condition
OMIM
ClinVar
RGD
PMID:9536098 PMID:16439621 PMID:17366577 PMID:17576681 PMID:17981815 More... RGD:155791562 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    syndrome 10776
      ectodermal dysplasia 539
        cardiofaciocutaneous syndrome 8
          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 21120
    Pathological Conditions, Signs and Symptoms 13299
      Signs and Symptoms 10784
        Neurologic Manifestations 10017
          sensory system disease 6930
            skin disease 3952
              Genetic Skin Diseases 1847
                ectodermal dysplasia 539
                  cardiofaciocutaneous syndrome 8
                    cardiofaciocutaneous syndrome 1 3
                    cardiofaciocutaneous syndrome 2 1
                    cardiofaciocutaneous syndrome 3 1
                    cardiofaciocutaneous syndrome 4 1
paths to the root