ORPHA:309450
Disorder of O-xylosylglycan 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Disorder of O-xylosylglycan synthesis | |
| fr | Anomalie de synthèse des O-xylosylglycanes | |
| de | Störung der O-Xylosylglykan-Synthese | |
| es | Trastornos de la síntesis de O-xilosilglicanos | |
| it | Difetto della sintesi degli O-xilosilglicani | |
| nl | Stoornis van O-xylosylglycaansynthese | |
| pt | Alteração da síntese de O-xilosilglicano | |
| pl | Zaburzenia syntezy O-ksylozyloglikanu | |
| cs | Poruchy syntézy O-xylosylglykanů | |
| uk | Порушення синтезу О-ксилозилгліканів | |
| zh | O-木糖基聚糖合成障碍 | |
| tr | O-ksilozilglikan sentezi bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17742 | E | validated | |
| UMLS | C5681042 | E | validated |
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):
- ORPHA:309447Disorder of protein O-glycosylation
rare inborn errors of metabolism; rare genetic diseases
Children (10):
- ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:263463CHST3-related skeletal dysplasia
- ORPHA:284139Larsen-like syndrome, B3GAT3 type
- ORPHA:321Multiple osteochondromas
- ORPHA:2953Musculocontractural Ehlers-Danlos syndrome
- ORPHA:480682POGLUT1-related limb-girdle muscular dystrophy R21
- ORPHA:466926Seizures-scoliosis-macrocephaly syndrome
- ORPHA:363417Temtamy preaxial brachydactyly syndrome
- ORPHA:370930XYLT1-CDG
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309450
- This record as JSON: /data/d/309450.json