loading...| Preferred Name |
inherited porphyria |
|
| Synonyms |
Porphyrinopathy Hematoporphyria disorder of porphyrin metabolism porphyria disorder of porphyrin and heme metabolism disorder of porphyrin and hem metabolism hereditary porphyria |
|
| Definitions |
Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. Editor notes: see notes for porphyria cutanea tarda for a discussion of inherited vs sporadic |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019142 |
|
| comment |
Editor notes: see notes for porphyria cutanea tarda for a discussion of inherited vs sporadic |
|
| altLabel |
Porphyrinopathy Hematoporphyria disorder of porphyrin metabolism porphyria disorder of porphyrin and heme metabolism disorder of porphyrin and hem metabolism hereditary porphyria |
|
| definition |
Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. Editor notes: see notes for porphyria cutanea tarda for a discussion of inherited vs sporadic |
|
| has_broad_synonym |
disorder of porphyrin metabolism porphyria disorder of porphyrin and heme metabolism |
|
| has_exact_synonym |
disorder of porphyrin and hem metabolism hereditary porphyria |
|
| has_related_synonym |
Porphyrinopathy Hematoporphyria |
|
| label |
inherited porphyria |
|
| prefixIRI |
MONDO:0019142 |
|
| prefLabel |
inherited porphyria |
|
| seeAlso | ||
| textual definition |
Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015951 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0019142 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019142 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019142 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019142 | MONDO | LOOM |