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Metadata
ID DOID:0050603
Name acheiropody
Definition An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene.
https://en.wikipedia.org/wiki/Acheiropodia
Xrefs

GARD:376

OMIM:200500

Subsets

DO_rare_slim

Synonyms

Acheiropodia [EXACT]

Horn-Kolb Syndrome [EXACT]

Parent Relationships

is_a osteochondrodysplasia

is_a autosomal recessive disease

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