Mondo Disease Ontology

Last uploaded: November 25, 2024

Preferred Name	pseudoxanthoma elasticum, forme fruste
Synonyms	pseudoxanthoma elasticum, heterozygous pseudoxanthoma elasticum, forme fruste
Definitions	An autosomal dominant form of PXE.
ID	http://purl.obolibrary.org/obo/MONDO_0008333
database_cross_reference	OMIM:177850 MEDGEN:357280 UMLS:C1867450 GARD:10104
definition	An autosomal dominant form of PXE.
has_exact_synonym	pseudoxanthoma elasticum, forme fruste
has_related_synonym	pseudoxanthoma elasticum, heterozygous
id	MONDO:0008333
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare
label	pseudoxanthoma elasticum, forme fruste
notation	MONDO:0008333
prefLabel	pseudoxanthoma elasticum, forme fruste
seeAlso	https://rarediseases.info.nih.gov/diseases/10104/pseudoxanthoma-elasticum-forme-fruste
skos_exactMatch	http://linkedlifedata.com/resource/umls/id/C1867450 https://omim.org/entry/177850 http://identifiers.org/medgen/357280
treeView	http://purl.obolibrary.org/obo/MONDO_0100091
excluded subClassOf	http://purl.obolibrary.org/obo/MONDO_0009925
subClassOf	http://purl.obolibrary.org/obo/MONDO_0100091

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0008333	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008333	DOVES	LOOM
http://purl.bioontology.org/ontology/OMIM/177850	OMIM	LOOM