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Summary Literature (0)
DOID:0080052 - acromesomelic dysplasia, Grebe type

Disease Ontology Definition:An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones.

Synonyms: acromesomelic dysplasia-2A, grebe chondrodysplasia, GREBE CHONDRODYSPLASIA

Xenbase Genes : gdf5, bmpr1b

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008703 - acromesomelic dysplasia 2A


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): acromesomelic dysplasia (is_a), autosomal recessive disease (is_a)