ORPHA:309469
Disorder of O-mannosylglycan 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-mannosylglycan synthesis | |
| fr | Anomalie de synthèse des O-mannosylglycanes | |
| de | Störung der O-Mannosyl-Glykan-Synthese | |
| es | Trastornos de la síntesis del O-manosilo glicano | |
| it | Difetto della sintesi degli O-mannosilglicani | |
| nl | Stoornis van O-mannosylglycaansynthese | |
| pt | Alteração da síntese de O-manosilglicano | |
| pl | Zaburzenia syntezy O-mannozyloglikanu | |
| cs | Poruchy syntézy O-mannosylglykanů | |
| uk | Порушення синтезу О-манозилгліканів | |
| zh | O-甘露糖聚糖合成障碍 | |
| tr | O-mannosilglikan sentezi bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17745 | E | validated | |
| UMLS | C5681045 | 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 (14):
- ORPHA:370959Congenital muscular dystrophy with cerebellar involvement
- ORPHA:370968Congenital muscular dystrophy with intellectual disability
- ORPHA:370980Congenital muscular dystrophy without intellectual disability
- ORPHA:272Congenital muscular dystrophy, Fukuyama type
- ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9
- ORPHA:206554Fukutin-related limb-girdle muscular dystrophy R13
- ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19
- ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20
- ORPHA:445110Limb-girdle muscular dystrophy due to POMK deficiency
- ORPHA:588Muscle-eye-brain disease
- ORPHA:206564POMGNT1-related limb-girdle muscular dystrophy R15
- ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11
- ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14
- ORPHA:899Walker-Warburg syndrome
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/309469
- This record as JSON: /data/d/309469.json