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Disease core ontology applied to Rare Diseases
Last uploaded:
February 7, 2014
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| Preferred Name | Peroxisome biogenesis disorder-Zellweger syndrome spectrum | |
| Synonyms |
PBD-Zellweger spectrum disorder PBD-ZSS PBD-ZSD |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_11215 |
|
| ageOfOnset |
Neonatal/infancy
|
|
| altLabel |
PBD-Zellweger spectrum disorder PBD-ZSS PBD-ZSD
|
|
| id_Medline |
neant
|
|
| id_MeSH |
C536664
|
|
| id_Orpha |
79189
|
|
| id_UMLS |
C1832200
|
|
| inheritance |
Autosomal recessive
|
|
| patType |
group of phenomes
|
|
| prefixIRI |
hrdo:pat_id_11215
|
|
| prefLabel |
Peroxisome biogenesis disorder-Zellweger syndrome spectrum
|
|
| prevalence |
Unknown
|
|
| subClassOf |
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|---|---|---|---|---|
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| Mapping To | Ontology | Source |
|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_79189 | CCONT | LOOM |
| http://www.orpha.net/ORDO/Orphanet_79189 | EFO | LOOM |