loading...| Preferred Name |
Achondroplasia |
| ID |
http://www.orpha.net/ORDO/Orphanet_15 |
| definition |
A primary bone dysplasia with micromelia characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=15 |
| has_age_of_onset |
Neonatal |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
MeSH:D000130 ICD-11:LD24.00 OMIM:100800 ICD-10:Q77.4 UMLS:C0001080 MedDRA:10000452 |
| label |
Achondroplasia |
| notation |
ORPHA:15 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_15 |
| prefLabel |
Achondroplasia |
| present_in |
France AND has_birth_prevalence_average_value : 5.645 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 3.7877 AND has_birth_prevalence_range : 1-9 / 100 000 North America AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 4.76 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 3.01 AND has_birth_prevalence_range : 1-9 / 100 000 Argentina AND has_birth_prevalence_average_value : 4.75 AND has_birth_prevalence_range : 1-9 / 100 000 Cameroon AND has_birth_prevalence_average_value : 16.53 AND has_birth_prevalence_range : 1-5 / 10 000 Switzerland AND has_birth_prevalence_average_value : 3.63 AND has_birth_prevalence_range : 1-9 / 100 000 Malta AND has_birth_prevalence_average_value : 6.35 AND has_birth_prevalence_range : 1-9 / 100 000 Venezuela AND has_birth_prevalence_average_value : 14.25 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 3.62 AND has_birth_prevalence_range : 1-9 / 100 000 Mexico AND has_birth_prevalence_average_value : 6.75 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 4.73 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 3.7 AND has_birth_prevalence_range : 1-9 / 100 000 Denmark AND has_birth_prevalence_average_value : 2.37 AND has_birth_prevalence_range : 1-9 / 100 000 Ukraine AND has_birth_prevalence_average_value : 6.0 AND has_birth_prevalence_range : 1-9 / 100 000 Latin America AND has_birth_prevalence_average_value : 3.2 AND has_birth_prevalence_range : 1-9 / 100 000 Iraq AND has_birth_prevalence_average_value : 79.05 AND has_birth_prevalence_range : 6-9 / 10 000 Spain AND has_birth_prevalence_average_value : 2.6466 AND has_birth_prevalence_range : 1-9 / 100 000 Saudi Arabia AND has_birth_prevalence_average_value : 48.14 AND has_birth_prevalence_range : 1-5 / 10 000 United Arab Emirates AND has_birth_prevalence_average_value : 10.51 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_birth_prevalence_average_value : 2.39 AND has_birth_prevalence_range : 1-9 / 100 000 Australia AND has_birth_prevalence_average_value : 3.8 AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_average_value : 4.47 AND has_birth_prevalence_range : 1-9 / 100 000 Iran, Islamic Republic of AND has_birth_prevalence_average_value : 36.73 AND has_birth_prevalence_range : 1-5 / 10 000 Kuwait AND has_birth_prevalence_average_value : 12.92 AND has_birth_prevalence_range : 1-5 / 10 000 Lebanon AND has_birth_prevalence_average_value : 25.87 AND has_birth_prevalence_range : 1-5 / 10 000 Sweden AND has_birth_prevalence_average_value : 4.195 AND has_birth_prevalence_range : 1-9 / 100 000 Nigeria AND has_birth_prevalence_average_value : 18.11 AND has_birth_prevalence_range : 1-5 / 10 000 Cuba AND has_birth_prevalence_average_value : 4.42 AND has_birth_prevalence_range : 1-9 / 100 000 |
| treeView | |
| subClassOf |