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loading...| Preferred Name |
Kniest dysplasia |
| ID |
http://www.orpha.net/ORDO/Orphanet_485 |
| definition |
Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root). |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485 |
| has_age_of_onset |
Neonatal Infancy |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
ICD-10:Q77.7 UMLS:C0265279 MeSH:C537207 ICD-11:LD24.3 OMIM:156550 |
| label |
Kniest dysplasia |
| notation |
ORPHA:485 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_253 |
| prefixIRI |
ORDO:Orphanet_485 |
| prefLabel |
Kniest dysplasia |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
| treeView |
http://www.orpha.net/ORDO/Orphanet_253 |
| subClassOf |
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