OBO ID: DOID:0080050
Term Name: acromesomelic dysplasia, Maroteaux type Search Ontology:
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)
OTHER acromesomelic dysplasia, Maroteaux type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NPR2 Acromesomelic dysplasia 1, Maroteaux type 602875
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None