| Metadata | |
|---|---|
| ID | DOID:0111582 |
| Name | hereditary arterial and articular multiple calcification syndrome |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/21288095 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
arterial calcification and distal joint calcification [EXACT] arterial calcification due to CD73 deficiency [EXACT] arterial calcification due to deficiency of CD73 [EXACT] calcification of joints and arteries [EXACT] CALJA [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |