A very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.

This is just here as a test because I lose it

Term information

database cross reference
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2646

hasDbXref

ICD-10:Q87.1

UMLS:C1868616

OMIM:168400

MeSH:C537172

has age of onset

http://www.orpha.net/ORDO/Orphanet_409945

http://www.orpha.net/ORDO/Orphanet_409944

has inheritance

http://www.orpha.net/ORDO/Orphanet_409929

has point prevalence range

http://www.orpha.net/ORDO/Orphanet_409979

notation

ORPHA:2646

part of

http://www.orpha.net/ORDO/Orphanet_364820

http://www.orpha.net/ORDO/Orphanet_93439

present in

http://www.orpha.net/ORDO/Orphanet_409984