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Cell Culture Ontology
| Preferred Name | autosomal recessive inherited pseudoxanthoma elasticum | |
| Synonyms |
Gronblad Strandberg syndrome pseudoxanthoma elasticum, modifier of severity of PXE, modifier of severity of pseudoxanthoma elasticum Gronblad-Strandberg-Touraine syndrome Pseudoxanthoma Elasticum AR inherited pseudoxanthoma elasticum Gronblad-Strandberg syndrome PXE |
|
| Definitions |
An autosomal recessive form of PXE. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009925 |
|
| database_cross_reference |
ICD9:757.39 MESH:D011561 UMLS:C1275116 icd11.foundation:1516160852 SCTID:239140003 Orphanet:758 NCIT:C85036 SCTID:72744008 OMIM:264800 SCTID:402782006 MedDRA:10037150 MEDGEN:698415 DOID:2738 NORD:1629
|
|
| definition |
An autosomal recessive form of PXE.
|
|
| has_exact_synonym |
Gronblad-Strandberg-Touraine syndrome Pseudoxanthoma Elasticum AR inherited pseudoxanthoma elasticum Gronblad-Strandberg syndrome PXE
|
|
| has_related_synonym |
Gronblad Strandberg syndrome pseudoxanthoma elasticum, modifier of severity of PXE, modifier of severity of pseudoxanthoma elasticum
|
|
| id |
MONDO:0009925
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
autosomal recessive inherited pseudoxanthoma elasticum
|
|
| notation |
MONDO:0009925
|
|
| preferred label |
autosomal recessive inherited pseudoxanthoma elasticum
|
|
| prefLabel |
autosomal recessive inherited pseudoxanthoma elasticum
|
|
| see also |
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 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0023603 |
|
| excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019755 http://purl.obolibrary.org/obo/MONDO_0016340 |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0009925 | MONDO | 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 | MONDO | 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 |