FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term acromicric dysplasia ID (Ontology) DOID:0111243 (Human Disease)
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.
Also Known As "ACMICD" ; "acromicric skeletal dysplasia"
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 Genes
 acromicric dysplasia       2
 for disease ribbon | acromicric dysplasia       2
 model of | acromicric dysplasia       2
Spanning Tree (Parents/Children)
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bone development disease__
cartilage disease_________|
                          osteochondrodysplasia
                           |__acromicric dysplasia  2 rec.
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Is a osteochondrodysplasia
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Synonyms
  • "ACMICD" EXACT OMO:0003012
    "acromicric skeletal dysplasia" EXACT
Secondary IDs
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GARD:7
MESH:C535662
MIM:102370
ORDO:969
SNOMEDCT_US_2023_03_01:254090007
UMLS_CUI:C0265287