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Metadata
ID	DOID:0111243
Name	acromicric dysplasia
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. https://www.ncbi.nlm.nih.gov/pubmed/21683322, https://www.ncbi.nlm.nih.gov/pubmed/3728563
Xrefs	GARD:7 MESH:C535662 OMIM:102370 ORDO:969 SNOMEDCT_US_2023_03_01:254090007 UMLS_CUI:C0265287
Subsets	DO_rare_slim
Synonyms	ACMICD [EXACT] acromicric skeletal dysplasia [EXACT]
Parent Relationships	is_a osteochondrodysplasia