OBO ID: DOID:0111243
Term Name: acromicric dysplasia Search Ontology:
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:
OTHER acromicric dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FBN1 Acromicric dysplasia 102370
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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