loading...| Preferred Name | porphyria | |
| Synonyms |
Hematoporphyria Porphyrinopathy disorder of porphyrin metabolism disorder of porphyrin and hem metabolism |
|
| Definitions |
An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_13268 |
|
| alternative label |
Hematoporphyria Porphyrinopathy disorder of porphyrin metabolism disorder of porphyrin and hem metabolism |
|
| database_cross_reference |
UMLS_CUI:C0032708 MESH:D011164 ICD10CM:E80.20 ICD9CM:277.1 SNOMEDCT_US_2023_03_01:190912004 GARD:10353 NCI:C97096 |
|
| definition |
An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. |
|
| has exact synonym |
Hematoporphyria Porphyrinopathy disorder of porphyrin metabolism disorder of porphyrin and hem metabolism |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:13268 |
|
| in_subset | ||
| label |
porphyria |
|
| notation |
DOID:13268 |
|
| note |
An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. |
|
| preferred label |
porphyria |
|
| prefLabel |
porphyria |
|
| subClassOf |