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