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Mondo Disease Ontology
| 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 Pseudoxanthoma Elasticum AR inherited pseudoxanthoma elasticum |
|
| Definitions |
An autosomal recessive form of PXE. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009925 |
|
| database_cross_reference |
MedDRA:10037150 SCTID:72744008 SCTID:402782006 OMIM:264800 ICD9:757.39 DOID:2738 Orphanet:758 icd11.foundation:1516160852 UMLS:C1275116 MESH:D011561 NORD:1629 MEDGEN:698415 NCIT:C85036 SCTID:239140003
|
|
| definition |
An autosomal recessive form of PXE.
|
|
| has_exact_synonym |
Gronblad-Strandberg syndrome Gronblad-Strandberg-Touraine syndrome PXE Pseudoxanthoma Elasticum AR inherited pseudoxanthoma elasticum
|
|
| has_related_synonym |
pseudoxanthoma elasticum, modifier of severity of PXE, modifier of severity of Gronblad Strandberg syndrome pseudoxanthoma elasticum
|
|
| id |
MONDO:0009925
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
autosomal recessive inherited pseudoxanthoma elasticum
|
|
| notation |
MONDO:0009925
|
|
| prefLabel |
autosomal recessive inherited pseudoxanthoma elasticum
|
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1516160852 http://purl.obolibrary.org/obo/Orphanet_758 http://purl.obolibrary.org/obo/DOID_2738 http://identifiers.org/medgen/698415 http://identifiers.org/snomedct/402782006 http://purl.obolibrary.org/obo/NCIT_C85036 http://identifiers.org/mesh/D011561 http://identifiers.org/snomedct/72744008 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0023603 |
|
| excluded subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019755 http://purl.obolibrary.org/obo/MONDO_0016340 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0023603 |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
| Mapping To | Ontology | Source |
|---|---|---|
| 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 | DOVES | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0009925 | KTAO | SAME_URI |
| 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 | DOVES | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0009925 | KTAO | LOOM |