Search Ontology:
Human Disease

acromesomelic dysplasia, Maroteaux type

Term ID
DOID:0080050
Synonyms
  • acromesomelic dysplasia-1
Definition
An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments. (2)
References
Ontology
Human Disease   ( DOID:0080050 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models