Mesomelic limb shortening and bowing

Preferred Label : Mesomelic limb shortening and bowing;

Type : Other, mainly phenotypes with suspected mendelian basis;

Prefixed ID : 249710;

Details

Origin ID

249710;

UMLS CUI

C1855273;

Currated CISMeF NLP mapping
- mesomelic limb shortening and bowing [MeSH concept]
- mesomelic limb shortening and bowing [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bowing of the arm [HPO term]
- Bowing of the legs [HPO term]
- Camptodactyly of finger [HPO term]
- Cleft palate [HPO term]
- Mesomelic arm shortening [HPO term]
- Mesomelic leg shortening [HPO term]
- Micrognathia [HPO term]
- Retrognathia [HPO term]
ORDO concept(s)
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mesomelic limb shortening and bowing [MeSH Supplementary Concept]
- mesomelic limb shortening and bowing [MeSH concept]

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