Radiohumeral fusions with other skeletal and craniofacial anomalies

Preferred Label : Radiohumeral fusions with other skeletal and craniofacial anomalies;

Symbol : RHFCA;

CISMeF acronym : RHFCA;

Type : Phenotype, molecular basis known;

Prefixed ID : #614416;

Details

Origin ID

614416;

UMLS CUI

C3280729;

Automatic exact mappings (from CISMeF team)
- CYP26B1 wt Allele [NCIt concept]
- Lethal occipital encephalocele-skeletal dysplasia syndrome [ORDO Disease]
Genes related to phenotype
- Cytochrome p450, subfamily xxvib, polypeptide 1 [OMIM gene]
HPO term(s)
- Antenatal onset [HPO term]
- Arachnodactyly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Craniosynostosis [HPO term]
- Humeroradial synostosis [HPO term]
- Occipital encephalocele [HPO term]
- Oligodactyly [HPO term]
ORDO concept(s)
- Lethal occipital encephalocele-skeletal dysplasia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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