Frias syndrome

Preferred Label : Frias syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 14q22 deletion syndrome; Growth deficiency, facial anomalies, and brachydactyly;

Inheritance : Autosomal dominant;

Molecular basis : Caused by deletion (4.06 Mb) of chromosome 14q22.1-q22.3;

Prefixed ID : #609640;

Details

Origin ID

609640;

UMLS CUI

C1864825;

Automatic exact mappings (from CISMeF team)
- 14q22q23 microdeletion syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Frias syndrome [MeSH concept]
- Growth deficiency-brachydactyly-dysmorphism syndrome [ORDO Disease]
- frias syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cupped ear [HPO term]
- Downslanted palpebral fissures [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Micrognathia [HPO term]
- Posteriorly rotated ears [HPO term]
- Proptosis [HPO term]
- Ptosis [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- 14q22q23 microdeletion syndrome [ORDO Disease]
- Growth deficiency-brachydactyly-dysmorphism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 14q22q23 microdeletion syndrome (disorder) [SNOMED CT concept]
- Frias syndrome [MeSH concept]
- Growth deficiency-brachydactyly-dysmorphism syndrome [ORDO Disease]
- frias syndrome [MeSH Supplementary Concept]

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