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Metadata
ID DOID:0081237
Name acromesomelic dysplasia 3
Definition An acromesomelic dysplasia that is characterized by short stature and shortened limbs with severe distal limb anomalies with rudimentary fingers and toes and that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22.
https://pubmed.ncbi.nlm.nih.gov/26105076/
Xrefs

MIM:609441

Synonyms

Demirhan-type acromesomelic dysplasia [EXACT]

Parent Relationships

is_a acromesomelic dysplasia

is_a autosomal recessive disease

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