loading...| Preferred Name | acromicric dysplasia | |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111243 |
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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. |
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| label |
acromicric dysplasia |
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| prefixIRI |
DOID:0111243 |
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| prefLabel |
acromicric dysplasia |
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