Cardiospondylocarpofacial Syndrome

Preferred Label : Cardiospondylocarpofacial Syndrome;

NCIt synonyms : CSCF;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the MAP3K7 gene, encoding mitogen-activated protein kinase kinase kinase 7. It is characterized by growth retardation, short stature, failure to thrive, cardiac anomalies, and dysmorphic facial features.;

Details

Origin ID

C188216;

UMLS CUI

C2931461;

Currated CISMeF NLP mapping
- Cardiospondylocarpofacial syndrome [OMIM Phenotype]
- Cardiospondylocarpofacial syndrome [ORDO Disease]
- Cardiospondylocarpofacial syndrome (disorder) [SNOMED CT concept]
- Forney Robinson Pascoe syndrome [MeSH concept]
- forney robinson pascoe syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cardiospondylocarpofacial syndrome [OMIM Phenotype]
- Cardiospondylocarpofacial syndrome (disorder) [SNOMED CT concept]
- Forney Robinson Pascoe syndrome [MeSH concept]
- forney robinson pascoe syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- MAP3K7 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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