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Standards Ontologies Notations
acromesomelic dysplasia-3

Summary
Synonym
  • Demirhan-type acromesomelic dysplasia
Definition
An acromesomelic dysplasia that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22.
Super Class
acromesomelic dysplasia
Disease Ontology
DOID:0081237
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
658 BMPR1B bone morphogenetic protein receptor type 1B
Displaying 1 entry
Gene ID Gene Symbol Description Source
174044 sma-6 Serine/threonine-protein kinase receptor sma-6
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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: December 9, 2024