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acromesomelic dysplasia, Hunter-Thompson type
Summary
- Synonym
-
- acromesomelic dwarfism
- acromesomelic dysplasia-2C
- Definition
- An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot.
- Super Class
- acromesomelic dysplasia autosomal recessive disease
External Links
- Disease Ontology
- DOID:0080051
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
