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Metadata
ID DOID:0080050
Name acromesomelic dysplasia, Maroteaux type
Definition An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments.
http://www.orpha.net/data/patho/GB/uk-Acromesomelic%2805%29.pdf, https://en.wikipedia.org/wiki/Acromesomelic_dysplasia
Xrefs

GARD:507

MESH:C535661

OMIM:602875

ORDO:40

Subsets

DO_rare_slim

Synonyms

acromesomelic dysplasia-1 [EXACT]

Parent Relationships

is_a acromesomelic dysplasia

is_a spinal disease

is_a autosomal recessive disease

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