Spondylometaphyseal dysplasia, east-African type

Preferred Label : Spondylometaphyseal dysplasia, east-African type;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0530257;

UMLS CUI

C2673686;

Automatic exact mappings (from CISMeF team)
- 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]
Related record
- spondylometaphyseal dysplasia, east-African type [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylometaphyseal dysplasia, east african type [OMIM Phenotype]