spondylometaphyseal dysplasia, east-African type

Preferred Label : spondylometaphyseal dysplasia, east-African type;

MeSH synonym : spondylometaphyseal dysplasia, east african type;

Origin ID

C535796;

UMLS CUI

C2673686;

Currated CISMeF NLP mapping
- Spondylometaphyseal dysplasia, east african type [OMIM Phenotype]
Has phenotype(s) (HPO)
- Isolated cases [HPO term]
- Short limb dwarfism [HPO term]
- short, slender long bones [HPO term]
MeSH term(s) associated for indexing
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- Spondylometaphyseal dysplasia, east-African type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylometaphyseal dysplasia, east african type [OMIM Phenotype]