Mesomelic dwarfism of hypoplastic tibia and radius type

Preferred Label : Mesomelic dwarfism of hypoplastic tibia and radius type;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal dominant;

Prefixed ID : %156230;

Details

Origin ID

156230;

UMLS CUI

C1835010;

Currated CISMeF NLP mapping
- mesomelic dwarfism of hypoplastic tibia and radius type [MeSH concept]
- mesomelic dwarfism of hypoplastic tibia and radius type [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hypoplasia of the radius [HPO term]
- Mesomelic dwarfism [HPO term]
- Mesomelic short stature [HPO term]
- Neonatal short-limb short stature [HPO term]
- Pseudoarthrosis [HPO term]
- Short limb dwarfism [HPO term]
- Short tibia [HPO term]
- Short-limb dwarfism identifiable at birth [HPO term]
Not associated HPO term(s)
- Abnormality of the face [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mesomelic dwarfism of hypoplastic tibia and radius type [MeSH Supplementary Concept]
- mesomelic dwarfism of hypoplastic tibia and radius type [MeSH concept]

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