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Human Disease Ontology
Last uploaded:
February 5, 2025
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| Id | http://purl.obolibrary.org/obo/DOID_2738
http://purl.obolibrary.org/obo/DOID_2738
|
|---|---|
| Preferred Name | pseudoxanthoma elasticum |
| Definitions |
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].
|
| Synonyms |
Gronblad-Strandberg syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | 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. |
|---|---|
| label |
pseudoxanthoma elasticum
|
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN].
|
| prefLabel |
pseudoxanthoma elasticum
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:7109007
MESH:D011561
UMLS_CUI:C0033847
GARD:9643
MIM:177850
MIM:264800
NCI:C85036
ORDO:758
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|
| notation |
DOID:2738
|
| in_subset | |
| id |
DOID:2738
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| has material basis in | |
| has_obo_namespace |
disease_ontology
|
| subClassOf | |
| type | |
| has exact synonym |
Gronblad-Strandberg syndrome
|
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