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cardiofaciocutaneous syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0015280

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability. [ Orphanet:1340 ]

Synonyms: CFC CFC syndrome cardio-facial-cutaneous syndrome cardiofaciocutaneous (CFC) syndrome cardiofaciocutaneous syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0060233 (MONDO:equivalentTo)
  • SCTID:403770008 (MONDO:equivalentTo)
  • NANDO:2200967 (https://orcid.org/0000-0003-0011-764X)
  • GARD:9146 (MONDO:GARD)
  • NCIT:C84617 (MONDO:equivalentTo)
  • UMLS:C1275081 (MONDO:equivalentTo)
  • NORD:891 (MONDO:NORD)
  • Orphanet:1340 (MONDO:equivalentTo)
  • OMIMPS:115150 (https://orcid.org/0000-0002-6601-2165)
  • MESH:C535579 (Orphanet:1340/e)
  • MEDGEN:266149 (MONDO:equivalentTo)
  • NANDO:1200462 (https://orcid.org/0000-0003-0011-764X)
Subsets

matrix_llm__is_cancer_other, ordo_disorder, gard_rare, mondo_top_grouping_integumentary_system_disorder, matrix_llm__txgnn_other, mondo_top_grouping_member, nord_rare, matrix_included, clingen, matrix_txgnn_grouping_member, rare, mondo_top_grouping_cardiovascular_disorder, harrisons_view_musculoskeletal_system_disorder, orphanet_rare, mondo_top_grouping_syndromic_disease, harrisons_view_integumentary_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_txgnn_grouping_cardiovascular_disorder, mondo_top_grouping_musculoskeletal_system_disorder, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_cardiovascular_disorder, ordo_malformation_syndrome, harrisons_view_member, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis

ClinGen label
cardiofaciocutaneous syndrome [ OMIMPS:115150 Orphanet:1340 DOID:0060233 NCIT:C84617 ]

abbreviation
CFC [ NCIT:C84617 ]

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0015280

exactMatch

http://purl.obolibrary.org/obo/NCIT_C84617

http://identifiers.org/snomedct/403770008

http://identifiers.org/mesh/C535579

http://identifiers.org/medgen/266149

https://omim.org/phenotypicSeries/PS115150

http://www.orpha.net/ORDO/Orphanet_1340

http://purl.obolibrary.org/obo/DOID_0060233

http://linkedlifedata.com/resource/umls/id/C1275081

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has related synonym

congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure

cardio-facio-cutaneous syndrome

id

MONDO:0015280

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml

term tracker item

https://github.com/monarch-initiative/mondo/issues/5588