Metadata | |
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ID | DOID:0080051 |
Name | acromesomelic dysplasia, Hunter-Thompson type |
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. http://www.orpha.net/data/patho/GB/uk-hunter05.pdf, https://en.wikipedia.org/wiki/Acromesomelic_dysplasia |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
acromesomelic dwarfism [EXACT] acromesomelic dysplasia-2C [EXACT] |
Parent Relationships |