Acromesomelic Dysplasia-4
Disease ID: disease_node_15656
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| Dbxref | MIM:619636 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080049 |
| Data Source | DOID |
| Doid Label | acromesomelic dysplasia-4 |
| Doid Description | An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the PRKG2 gene on chromosome 4q21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15656 |
| Doid Id | DOID_0081238 |
| Label | Acromesomelic Dysplasia-4 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)