loading...| Preferred Name |
Porphyria |
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| Synonyms |
|
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| Definitions |
Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_738 |
|
| definition |
Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. |
|
| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=738 |
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| has_age_of_onset |
All ages |
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| has_inheritance |
Autosomal recessive Autosomal dominant |
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| hasDbXref |
ICD-10:E80.1 UMLS:C0032708 MedDRA:10036181 ICD-10:E80.2 ICD-11:5C58.1 MeSH:D011164 |
|
| label |
Porphyria |
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| notation |
Clinical group ORPHA:738 |
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| prefixIRI |
ORDO:Orphanet_738 |
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| prefLabel |
Porphyria |
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| present_in |
Denmark AND has_annual_incidence_average_value : 0.52 AND has_annual_incidence_range : 1-9 / 1 000 000 Japan AND has_lifetime_prevalence_average_value : 0.7 AND has_lifetime_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 5.25 AND has_point_prevalence_range : 1-9 / 100 000 |
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| subClassOf |
http://www.orpha.net/ORDO/Orphanet_79390 http://www.orpha.net/ORDO/Orphanet_183490 http://www.orpha.net/ORDO/Orphanet_309813 http://www.orpha.net/ORDO/Orphanet_79387 |