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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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Preferred Name | autosomal recessive inherited pseudoxanthoma elasticum | |
Synonyms |
pseudoxanthoma elasticum, modifier of severity of PXE, modifier of severity of Gronblad Strandberg syndrome pseudoxanthoma elasticum Gronblad-Strandberg syndrome Gronblad-Strandberg-Touraine syndrome PXE AR inherited pseudoxanthoma elasticum |
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Definitions |
An autosomal recessive form of PXE. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0009925 |
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altLabel |
pseudoxanthoma elasticum, modifier of severity of PXE, modifier of severity of Gronblad Strandberg syndrome pseudoxanthoma elasticum Gronblad-Strandberg syndrome Gronblad-Strandberg-Touraine syndrome PXE AR inherited pseudoxanthoma elasticum
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definition |
An autosomal recessive form of PXE.
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has_exact_synonym |
Gronblad-Strandberg syndrome Gronblad-Strandberg-Touraine syndrome PXE AR inherited pseudoxanthoma elasticum
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has_related_synonym |
pseudoxanthoma elasticum, modifier of severity of PXE, modifier of severity of Gronblad Strandberg syndrome pseudoxanthoma elasticum
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label |
autosomal recessive inherited pseudoxanthoma elasticum
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prefixIRI |
MONDO:0009925
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prefLabel |
autosomal recessive inherited pseudoxanthoma elasticum
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seeAlso |
https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum |
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textual definition |
An autosomal recessive form of PXE.
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subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0019755 http://purl.obolibrary.org/obo/MONDO_0023603 http://purl.obolibrary.org/obo/MONDO_0016340 http://purl.obolibrary.org/obo/MONDO_0100091 http://purl.obolibrary.org/obo/MONDO_0019292 http://purl.obolibrary.org/obo/MONDO_0006025 |
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Mapping To | Ontology | Source |
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http://purl.obolibrary.org/obo/MONDO_0009925 | MONDO | SAME_URI |
http://purl.obolibrary.org/obo/MONDO_0009925 | CCONT | SAME_URI |
http://purl.obolibrary.org/obo/MONDO_0009925 | EFO | SAME_URI |
http://purl.obolibrary.org/obo/MONDO_0009925 | KTAO | SAME_URI |
http://purl.obolibrary.org/obo/MONDO_0009925 | MONDO | LOOM |
http://purl.obolibrary.org/obo/MONDO_0009925 | CCONT | LOOM |
http://purl.obolibrary.org/obo/MONDO_0009925 | EFO | LOOM |
http://purl.obolibrary.org/obo/MONDO_0009925 | KTAO | LOOM |