loading...| Preferred Name |
porphyria |
|
| Synonyms |
|
|
| 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 |
|
| definition |
An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. |
|
| hasDbXref |
MESH:D011164 SNOMEDCT_US_2016_03_01:371628009 SNOMEDCT_US_2016_03_01:274090006 NCI:C97096 SNOMEDCT_US_2016_03_01:29094004 ICD9CM:277.1 SNOMEDCT_US_2016_03_01:238052001 SNOMEDCT_US_2016_03_01:86292002 SNOMEDCT_US_2016_03_01:418470004 SNOMEDCT_US_2016_03_01:190916001 ICD10CM:E80.20 SNOMEDCT_US_2016_03_01:190912004 SNOMEDCT_US_2016_03_01:154768004 UMLS_CUI:C0032708 |
|
| hasExactSynonym |
disorder of porphyrin metabolism Porphyrinopathy disorder of porphyrin and hem metabolism Hematoporphyria |
|
| hasOBONamespace |
disease_ontology |
|
| id |
DOID:13268 |
|
| imported from | ||
| label |
porphyria |
|
| prefixIRI |
DOID:13268 |
|
| prefLabel |
porphyria |
|
| subClassOf |
This ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.
Term Label (required)
Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from Bioportal's Classes tree viewer.
References (optional)
Provide evidence for the existence of the requested term such as Pubmed IDs of papers or links to other resources that describe the term.
Justification (optional)
Provide any additional information about the requested term here.