Hereditary Arterial And Articular Multiple Calcification Syndrome
Disease ID: disease_node_20247
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| Dbxref | GARD:10762, MIM:211800, ORDO:289601 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CALJA, arterial calcification and distal joint calcification, arterial calcification due to CD73 deficiency, arterial calcification due to deficiency of CD73, calcification of joints and arteries |
| Doid Label | hereditary arterial and articular multiple calcification syndrome |
| Doid Description | A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in the NT5E gene on chromosome 6q14.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20247 |
| Doid Id | DOID_0111582 |
| Label | Hereditary Arterial And Articular Multiple Calcification Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)