loading...| Preferred Name |
Hypochondroplasia |
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| Synonyms |
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| Definitions |
A primary bone dysplasia with micromelia characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_429 |
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| definition |
A primary bone dysplasia with micromelia characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=429 |
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| has_age_of_onset |
Adolescent Adult Antenatal Childhood Infancy Neonatal |
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| has_inheritance |
Autosomal dominant |
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| hasDbXref |
MedDRA:10020967 UMLS:C0410529 ICD-11:LD24.01 ICD-10:Q77.4 OMIM:146000 MeSH:C562937 |
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| label |
Hypochondroplasia |
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| notation |
ORPHA:429 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_429 |
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| prefLabel |
Hypochondroplasia |
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| present_in |
Worldwide AND has_birth_prevalence_average_value : 3.0303 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 3.0303 AND has_point_prevalence_range : 1-9 / 100 000 |
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| treeView | ||
| subClassOf |