| 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 | |
| Synonyms |
Demirhan-type acromesomelic dysplasia [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |