FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term acromesomelic dysplasia 3 ID (Ontology) DOID:0081237 (Human Disease)
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.
Also Known As "Demirhan-type acromesomelic dysplasia"
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 Genes
 acromesomelic dysplasia 3       1
 for disease ribbon | acromesomelic dysplasia 3       1
 model of | acromesomelic dysplasia 3       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
osteochondrodysplasia            |
 |__acromesomelic dysplasia______|
                                 acromesomelic dysplasia 3  1 rec.
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Is a autosomal recessive disease
acromesomelic dysplasia
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Synonyms
  • "Demirhan-type acromesomelic dysplasia" EXACT
Secondary IDs
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MIM:609441