Pulmonary Venoocclusive Disease 2
Disease ID: disease_node_13240
Connections displayed (default: 10).
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| Dbxref | MIM:234810 |
|---|---|
| Subclassof | DOID_5453, DOID_0050737 |
| Data Source | DOID |
| Synonyms | FAMILIAL PULMONARY CAPILLARY HEMANGIOMATOSIS |
| Doid Label | pulmonary venoocclusive disease 2 |
| Doid Description | A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13240 |
| Doid Id | DOID_0081269 |
| Label | Pulmonary Venoocclusive Disease 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Pulmonary Veno-Occlusive Disease(ID:disease_node_6445) (Disease)