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acromesomelic dysplasia, Grebe type
Summary
- Synonym
-
- acromesomelic dysplasia-2A
- grebe chondrodysplasia
- 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.
- Super Class
- acromesomelic dysplasia autosomal recessive disease
External Links
- Disease Ontology
- DOID:0080052
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
