Pseudoxanthoma Elasticum
Disease ID: disease_node_6399
Connections displayed (default: 10).
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| Dbxref | GARD:9643, MESH:D011561, MIM:177850, MIM:264800, NCI:C85036, ORDO:758, SNOMEDCT_US_2023_03_01:7109007, UMLS_CUI:C0033847 |
|---|---|
| Subclassof | DOID_0050737, DOID_65 |
| Data Source | DOID, MESH |
| Synonyms | Gronblad-Strandberg syndrome |
| Mesh Id | D011561 |
| Mesh Label | Pseudoxanthoma Elasticum |
| Mesh Subclassof | D003240, D012873, D012868, D020141 |
| Doid Label | pseudoxanthoma elasticum |
| Doid Description | A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_6399 |
| Doid Id | DOID_2738 |
| Label | Pseudoxanthoma Elasticum |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Connective Tissue Diseases(ID:disease_node_2242) (Disease)