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Langer mesomelic dysplasia

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.
Uniprot Description Autosomal recessive rare skeletal dysplasia characterized by severe short stature owing to shortening and maldevelopment of the mesomelic and rhizomelic segments of the limbs. Associated malformations are rarely reported and intellect is normal in all affected subjects reported to date.
Mondo Term and Equivalent IDs
MONDO:0009588:  Langer mesomelic dysplasia
GARD:0003553: 
MESH:C537267: 
NCIT:C126876: 
Orphanet:2632: 
SCTID:38494008: 
UMLS:C0432230: