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Orphanet Rare Disease Ontology
Last uploaded:
July 3, 2024
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| Preferred Name | Primary lipodystrophy | |
| Synonyms |
|
|
| Definitions |
A heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy). |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_90970 |
|
| definition |
A heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy).
|
|
| definition_citation |
Orphanet
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|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90970 |
|
| has_age_of_onset |
All ages
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|
| hasDbXref |
UMLS:C5681471
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|
| label |
Primary lipodystrophy
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|
| notation |
ORPHA:90970 Category
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|
| prefixIRI |
ORDO:Orphanet_90970
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|
| prefLabel |
Primary lipodystrophy
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|
| present_in |
Europe AND has_point_prevalence_range : 1-9 / 1 000 000
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|
| subClassOf |
http://www.orpha.net/ORDO/Orphanet_557492 |
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| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping
| Mapping To | Ontology | Source |
|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_90970 | CCONT | SAME_URI |
| http://www.orpha.net/ORDO/Orphanet_90970 | EFO | SAME_URI |
| http://www.ebi.ac.uk/efo/EFO_0700109 | CCONT | LOOM |
| http://www.ebi.ac.uk/efo/EFO_0700109 | EFO | LOOM |
| http://www.limics.org/hrdo/rdfns#pat_id_12101 | HRDO | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0019599 | DOVES | LOOM |