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loading...| Preferred Name |
Parastremmatic dwarfism |
| ID |
http://www.orpha.net/ORDO/Orphanet_2646 |
| definition |
A very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2646 |
| has_age_of_onset |
Neonatal Infancy |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
OMIM:168400 ICD-10:Q87.1 ICD-11:LD24.3 MeSH:C537172 UMLS:C1868616 |
| label |
Parastremmatic dwarfism |
| notation |
ORPHA:2646 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_2646 |
| prefLabel |
Parastremmatic dwarfism |
| present_in |
Europe AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView | |
| subClassOf |
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