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 inherited 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. |
|
| database_cross_reference |
SCTID:403832004 GARD:21346 Orphanet:309813 ICD10CM:E80.4 |
|
| definition |
An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process. |
|
| 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 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| label |
inborn disorder of porphyrin metabolism |
|
| notation |
MONDO:0017754 |
|
| prefLabel |
inborn disorder of porphyrin metabolism |
|
| skos_exactMatch | ||
| terms_conformsTo |
http://purl.obolibrary.org/obo/inborn_metabolic.yaml http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.yaml |
|
| treeView | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0017754 | OBA | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0017754 | CCONT | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0017754 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0017754 | DOVES | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0017754 | KTAO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0017754 | OBA | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0017754 | CCONT | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0017754 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0017754 | DOVES | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0017754 | KTAO | LOOM |