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MIRAGE
acromesomelic dysplasia 3

Summary
Synonym
  • Demirhan-type acromesomelic dysplasia
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.
Super Class
acromesomelic dysplasia autosomal recessive disease
Disease Ontology
DOID:0081237
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
658 BMPR1B bone morphogenetic protein receptor type 1B
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O00238 Bone morphogenetic protein receptor type-1B
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025