raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:309813

Disorder of porphyrin and heme metabolism

Type
Category
Group
Group of disorders
Status
active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enDisorder of porphyrin and heme metabolism
frTrouble du métabolisme de la porphyrine et de l'hème
dePorphyrin- und Häm-Stoffwechselstörung
esTrastornos del metabolismo de las porfirinas y del hemo
itDifetto del metabolismo della porfirina e dell'eme
nlStoornis van porfyrine- en heemmetabolisme
ptAlteração do metabolismo da porfirina e do heme
plZaburzenia metabolizmu porfiryny i hemu
csPoruchy metabolismu porfyrinu a hemu
ukПорушення обміну порфірину та гему
zh卟啉与血红素代谢紊乱
trPorfirin ve hem metabolizmasının bozukluğu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0017754Evalidated
MONDO17754Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

Children (4):

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card