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DO Term : pseudoxanthoma elasticum [DOID:2738] Disease Ontology

Namespace

disease_ontology

Obsolete

false

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.

synonyms:
OMIM:177850,
MESH:D011561,
Gronblad-Strandberg syndrome,
GARD:9643,
ORDO:758,
OMIM:264800,
177850,
SNOMEDCT_US_2023_03_01:7109007,
NCI:C85036,
264800,
UMLS_CUI:C0033847

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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