loading...| Preferred Name |
inborn disorder of porphyrin metabolism |
|
| Synonyms |
disorder of porphyrin and haem metabolism inborn disorder of porphyrin and haem metabolism inherited disorder of porphyrin metabolism rare inborn error of porphyrin-containing compound metabolic process inborn porphyrin-containing compound metabolic process disorder 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0017754 |
|
| database_cross_reference |
ICD10CM:E80.4 Orphanet:309813 SCTID:403832004 GARD:21346 |
|
| definition |
An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process. |
|
| exactMatch | ||
| has_broad_synonym |
disorder of porphyrin and haem metabolism |
|
| has_exact_synonym |
inborn disorder of porphyrin and haem metabolism inherited disorder of porphyrin metabolism rare inborn error of porphyrin-containing compound metabolic process inborn porphyrin-containing compound metabolic process disorder inborn error of porphyrin-containing compound metabolic process |
|
| id |
MONDO:0017754 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
inborn disorder of porphyrin metabolism |
|
| notation |
MONDO:0017754 |
|
| preferred label |
inborn disorder of porphyrin metabolism |
|
| prefLabel |
inborn disorder of porphyrin metabolism |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0017754 | MONDO | 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 | KTAO | SAME_URI | |
| 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 | |
| http://purl.obolibrary.org/obo/MONDO_0017754 | KTAO | LOOM |