Char syndrome - CISMeF

Preferred Label : Char syndrome;

Symbol : CHAR;

CISMeF acronym : CHAR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the transcription factor AP-2 beta gene (TFAP2B, 601601.0001);

Prefixed ID : #169100;

Details

Origin ID

169100;

UMLS CUI

C1868570;

Automatic exact mappings (from CISMeF team)
- Charring (qualifier value) [SNOMED CT concept]
- TFAP2B wt Allele [NCIt concept]
- char [IUPAC Term]
- charring [IUPAC Term]
- charring [SNOMED Notion]
- salvelinus [MeSH concept]
- trout [MeSH Descriptor]
Currated CISMeF NLP mapping
- Char syndrome [DO Concept]
- Char syndrome [Disease (Nov.)]
- Char syndrome [ORDO Disease]
- Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (disorder) [SNOMED CT concept]
- char syndrome [MeSH concept]
- char syndrome [MeSH Supplementary Concept]
DO Cross reference
- Char syndrome [DO Concept]
Genes related to phenotype
- Transcription factor ap2-beta [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Broad forehead [HPO term]
- Broad nasal tip [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Distal/middle symphalangism of 5th finger [HPO term]
- Global developmental delay [HPO term]
- Highly arched eyebrow [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability, mild [HPO term]
- Low-set ears [HPO term]
- Parasomnia [HPO term]
- Patent ductus arteriosus [HPO term]
- Prominent ears [HPO term]
- Protruding ear [HPO term]
- Ptosis [HPO term]
- Short philtrum [HPO term]
- Strabismus [HPO term]
- Thick eyebrow [HPO term]
- Triangular mouth [HPO term]
- thick, arched eyebrows [HPO term]
ORDO concept(s)
- Char syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Char syndrome [ORDO Disease]
- Char syndrome [DO Concept]
- Char syndrome [Disease (Nov.)]
- Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (disorder) [SNOMED CT concept]
- char syndrome [MeSH Supplementary Concept]
- char syndrome [MeSH concept]

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