loading...| Preferred Name |
inborn disorder of porphyrin metabolism |
|
| Synonyms |
disorder of porphyrin and haem metabolism inborn porphyrin-containing compound metabolic process disorder rare inborn error of porphyrin-containing compound metabolic process inborn disorder of porphyrin and haem metabolism inherited disorder of porphyrin metabolism inborn error of porphyrin-containing compound metabolic process |
|
| Definitions |
An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process. Editor note: we follow ORDO and treat this as inborn. However, some form of porphyria (e.g PCT) may be acquired. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0017754 |
|
| comment |
Editor note: we follow ORDO and treat this as inborn. However, some form of porphyria (e.g PCT) may be acquired. |
|
| conformsTo |
http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic.yaml http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.yaml |
|
| database_cross_reference |
ICD10:E80.7 SCTID:403832004 ICD10:E80.4 ICD10:E80.2 ICD10:E80.3 Orphanet:309813 UMLS:C1275125 ICD10:E80.5 ICD10:E80.1 ICD10:E80.0 ICD10:E80.6 |
|
| exactMatch |
http://www.orpha.net/ORDO/Orphanet_309813 |
|
| has broad synonym |
disorder of porphyrin and haem metabolism |
|
| has exact synonym |
inborn porphyrin-containing compound metabolic process disorder rare inborn error of porphyrin-containing compound metabolic process inborn disorder of porphyrin and haem metabolism inherited disorder of porphyrin metabolism inborn error of porphyrin-containing compound metabolic process |
|
| id |
MONDO:0017754 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
| label |
inborn disorder of porphyrin metabolism |
|
| notation |
MONDO:0017754 |
|
| prefLabel |
inborn disorder of porphyrin metabolism |
|
| textual definition |
An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process. |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0017754 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0017754 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0017754 | OBA | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0017754 | DOVES | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0017754 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0017754 | OBA | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0017754 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0017754 | DOVES | LOOM |