Search Ontology:
Human Disease

acromicric dysplasia

Term ID
DOID:0111243
Synonyms
  • ACMICD
  • acromicric skeletal 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. (2)
References
Ontology
Human Disease   ( DOID:0111243 )
Relationships
is a type of
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Genes Involved
Zebrafish Models