Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome

Preferred Label : Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Fatco syndrome;

Inheritance : Autosomal dominant; Isolated cases;

Prefixed ID : 246570;

Détails

Origin ID

246570;

UMLS CUI

C1855499;

Currated CISMeF NLP mapping
- FATCO syndrome [ORDO Disease]
- Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome (disorder) [SNOMED CT concept]
- Hecht Scott syndrome [MeSH concept]
- fibular aplasia, tibial campomelia, and oligosyndactyly syndrome [MeSH concept]
- fibular aplasia, tibial campomelia, and oligosyndactyly syndrome [MeSH Supplementary Concept]
- hecht scott syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the hand [HPO term]
- Autosomal dominant inheritance [HPO term]
- Fibular aplasia [HPO term]
- Foot oligodactyly [HPO term]
- Hand oligodactyly [HPO term]
- Isolated cases [HPO term]
- Short tibia [HPO term]
- Shortening of the tibia [HPO term]
- Sporadic [HPO term]
- Syndactyly [HPO term]
- Tibial bowing [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome (disorder) [SNOMED CT concept]
- fibular aplasia, tibial campomelia, and oligosyndactyly syndrome [MeSH Supplementary Concept]
- fibular aplasia, tibial campomelia, and oligosyndactyly syndrome [MeSH concept]

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