ZFIN Human Disease: acromesomelic dysplasia, Maroteaux type

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:	GARD:507 MESH:C535661 OMIM:602875 ORDO:40
Ontology:	Human Disease ( DOID:0080050 )

Relationships

is a type of:	acromesomelic dysplasia autosomal recessive disease spinal disease acromesomelic dysplasia autosomal recessive disease spinal disease Show first 5 Terms

OTHER acromesomelic dysplasia, Maroteaux type PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NPR2	npr2	Acromesomelic dysplasia 1, Maroteaux type	602875

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None