OBO ID: DOID:0111243 |
Term Name: | acromicric dysplasia | Search Ontology: | |
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Definition: | An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1. (2) | ||
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Ontology: | Human Disease ( DOID:0111243 ) |
OTHER acromicric dysplasia PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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