Acrofacial dysostosis, cincinnati type

Preferred Label : Acrofacial dysostosis, cincinnati type;

Symbol : AFDCIN;

CISMeF acronym : AFDCIN;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the RNA polymerase I, subunit-A gene (POLR1A, 616404.0001);

Prefixed ID : #616462;

Details

Origin ID

616462;

UMLS CUI

C4225317;

Automatic exact mappings (from CISMeF team)
- POLR1A wt Allele [NCIt concept]
CISMeF manual mappings
- acrofacial dysostosis Cincinnati type [DO Concept]
DO Cross reference
- acrofacial dysostosis Cincinnati type [DO Concept]
Genes related to phenotype
- Polymerase I, rna, subunit a [OMIM gene]
HPO term(s)
- Acetabular dysplasia [HPO term]
- Anotia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Choanal atresia [HPO term]
- Cleft palate [HPO term]
- Decreased body weight [HPO term]
- Downslanted palpebral fissures [HPO term]
- Femoral bowing [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Midface retrusion [HPO term]
- Patent ductus arteriosus [HPO term]
- Retrognathia [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Burn-McKeown syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- acrofacial dysostosis Cincinnati type [DO Concept]

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