raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:289832

Disorder of lysine and hydroxylysine 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 lysine and hydroxylysine metabolism
frTrouble du métabolisme de la lysine et de l'hydroxylysine
deLysin und Hydroxylysin-Stoffwechselstörung
esTrastorno del metabolismo de la lisina y la hidroxilisina
itDifetto del metabolismo della lisina e dell'idrossilisina
nlStoornis van lysine- en hydroxylysinemetabolisme
ptDoença do metabolismo da lisina e hidroxilisina
plZaburzenie metabolizmu lizyny i hydroksylizyny
csPorucha metabolismu lysinu a hydroxylysinu
ukПорушення обміну лізину та гідроксилізину
zh赖氨酸和羟赖氨酸代谢紊乱
trLizin ve hidroksilisin metabolizmasında bozukluk
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10E72.3Especificvalidated
ICD-115C50.4Especificvalidated
MONDO0017351Evalidated
MONDO17351Evalidated
UMLSC0268552Evalidated

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