ONTOLOGY REPORT - ANNOTATIONS


Term:cardiofaciocutaneous syndrome
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Accession:DOID:0060233 term browser browse the term
Definition:A syndrome 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: CARDIOFACIOCUTANEOUS SYNDROME 1;   CFC syndrome;   CFC1;   CFCS;   Cardio-Facio-Cutaneous Syndrome;   cardio-facial-cutaneous syndrome
 primary_id: MESH:C535579
 alt_id: OMIM:115150;   RDO:0000788
 xref: GARD:9146;   OMIM:PS115150;   ORDO:1340
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cardiofaciocutaneous syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:7240710
RGD:8554872
RGD:11352608
RGD:11567236
RGD:11554173
RGD:1600471
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:11554173
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:1600471
RGD:8554872
RGD:11554173
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:8554872
RGD:11554173
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:8554872
RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
RGD:11554173
G Snapc5 small nuclear RNA activating complex, polypeptide 5 JBrowse link 8 69,127,708 69,131,539 RGD:8554872
G Tipin timeless interacting protein JBrowse link 8 69,753,363 69,768,640 RGD:8554872
Cardiofaciocutaneous Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:7240710
RGD:8554872
Cardiofaciocutaneous Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:8554872
RGD:7240710
Cardiofaciocutaneous Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    syndrome 4714
      cardiofaciocutaneous syndrome 8
        Cardiofaciocutaneous Syndrome 2 1
        Cardiofaciocutaneous Syndrome 3 1
        Cardiofaciocutaneous Syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        sensory system disease 4265
          skin disease 2268
            Genetic Skin Diseases 582
              ectodermal dysplasia 144
                cardiofaciocutaneous syndrome 8
                  Cardiofaciocutaneous Syndrome 2 1
                  Cardiofaciocutaneous Syndrome 3 1
                  Cardiofaciocutaneous Syndrome 4 1
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.