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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Id | http://www.orpha.net/ORDO/Orphanet_15
http://www.orpha.net/ORDO/Orphanet_15
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|---|---|
| Preferred Name | Achondroplasia |
| Definitions |
A primary bone dysplasia with micromelia characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition_citation | Orphanet |
|---|---|
| definition | A primary bone dysplasia with micromelia characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia. |
| label |
Achondroplasia
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| prefLabel |
Achondroplasia
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| hasDbXref |
ICD-11:LD24.00
ICD-10:Q77.4
UMLS:C0001080
MedDRA:10000452
MeSH:D000130
OMIM:100800
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| notation |
ORPHA:15
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| present_in |
Poland AND has_birth_prevalence_average_value : 4.47 AND has_birth_prevalence_range : 1-9 / 100 000
Kuwait AND has_birth_prevalence_average_value : 12.92 AND has_birth_prevalence_range : 1-5 / 10 000
North America AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000
Cuba AND has_birth_prevalence_average_value : 4.42 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
Malta AND has_birth_prevalence_average_value : 6.35 AND has_birth_prevalence_range : 1-9 / 100 000
Europe AND has_birth_prevalence_average_value : 3.62 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
United Arab Emirates AND has_birth_prevalence_average_value : 10.51 AND has_birth_prevalence_range : 1-5 / 10 000
Iraq AND has_birth_prevalence_average_value : 79.05 AND has_birth_prevalence_range : 6-9 / 10 000
Italy AND has_birth_prevalence_average_value : 3.7 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
Netherlands AND has_birth_prevalence_average_value : 3.01 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
Sweden AND has_birth_prevalence_average_value : 4.195 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
United Kingdom AND has_birth_prevalence_average_value : 3.7877 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
Argentina AND has_birth_prevalence_average_value : 4.75 AND has_birth_prevalence_range : 1-9 / 100 000
Norway AND has_birth_prevalence_average_value : 2.39 AND has_birth_prevalence_range : 1-9 / 100 000
Lebanon AND has_birth_prevalence_average_value : 25.87 AND has_birth_prevalence_range : 1-5 / 10 000
Venezuela AND has_birth_prevalence_average_value : 14.25 AND has_birth_prevalence_range : 1-5 / 10 000
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
Worldwide AND has_point_prevalence_range : Unknown
Germany AND has_birth_prevalence_average_value : 4.76 AND has_birth_prevalence_range : 1-9 / 100 000
Spain AND has_birth_prevalence_average_value : 2.6466 AND has_birth_prevalence_range : 1-9 / 100 000
France AND has_birth_prevalence_average_value : 5.645 AND has_birth_prevalence_range : 1-9 / 100 000
Switzerland AND has_birth_prevalence_average_value : 3.63 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
Saudi Arabia AND has_birth_prevalence_average_value : 48.14 AND has_birth_prevalence_range : 1-5 / 10 000
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| part_of | |
| prefixIRI |
ORDO:Orphanet_15
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| expertlink | |
| subClassOf | |
| type | |
| has_inheritance |
Autosomal dominant
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| has_age_of_onset |
Neonatal
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| treeView |
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