acromesomelic dysplasia, Grebe type

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

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

MIM:

MIM:200700 - chondrodysplasia, grebe type

MIM:200700 - chondrodysplasia, grebe type

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)