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loading...| Preferred Name | Acromicric dysplasia | |
| Synonyms |
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| Definitions |
A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_969 |
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| definition |
A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands. |
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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=969 |
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| has_age_of_onset |
Neonatal |
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| has_inheritance |
Autosomal dominant |
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| hasDbXref |
ICD-10:Q77.8 MedDRA:10083854 UMLS:C0265287 OMIM:102370 MeSH:C535662 ICD-11:LD24.8Y |
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| label |
Acromicric dysplasia |
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| notation |
ORPHA:969 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_969 |
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| prefLabel |
Acromicric dysplasia |
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| present_in |
Worldwide AND has_cases/families_value : 60.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
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| treeView | ||
| subClassOf |
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