ORPHA:309463

Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis

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.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
fr	Anomalie de synthèse des O-xylosyl/N-acétylgalactosaminylglycanes
de	Störung der O-Xylosyl/N-Acetylgalaktosamin-Glykan-Synthese
es	Trastornos de la síntesis de O-xilosil/N-acetilgalactosaminilglicanos
it	Difetto della sintesi degli O-xilosil/N-acetilgalattosaminilglicani
nl	Stoornis van O-xylosyl/N-acetylgalactosaminylglycaansynthese
pt	Alteração da síntese de O-xilosil / N-acetilgalactosaminilglicanos
pl	Zaburzenia syntezy O-ksylozylo/N-acetylogalaktozoaminyloglikanu
cs	Poruchy syntézy O-xylosyl/N-acetylgalaktosaminylglykanů
uk	Порушення синтезу О-ксилозил/N-ацетилгалактозамінілглікану
zh	O-木糖基/ N-乙酰半乳糖胺基聚糖合成障碍
tr	O-ksilosil / N-asetilgalaktozaminilglikan sentezi bozukluğu

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
MONDO	17744	E		validated
UMLS	C5681048	E		validated

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

Classification

Preferential parent (Orphanet linearisation):

ORPHA:68367Rare inborn error of metabolism

Parents in the classifications (1):

ORPHA:309447Disorder of protein O-glycosylation
rare inborn errors of metabolism; rare genetic diseases

Children (1):

ORPHA:3144Schneckenbecken dysplasia

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/309463
This record as JSON: /data/d/309463.json