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Metadata
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://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=506, http://www.ncbi.nlm.nih.gov/omim/201250, http://www.orpha.net/data/patho/GB/uk-hunter05.pdf
Xrefs

OMIM:201250

ORDO:968

Synonyms

acromesomelic dwarfism [EXACT]

Parent Relationships

is_a acromesomelic dysplasia

is_a autosomal recessive disease

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