ORPHA:352301
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
- 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Disorder of phospholipids, sphingolipids and fatty acids biosynthesis | |
| fr | Trouble de la synthèse des phospholipides, sphingolipides et acides gras | |
| de | Störung der Phospholipid-, Sphingolipid- und Fettsäure-Biosynthese | |
| es | Trastorno de la síntesis de fosfolípidos, esfingolípidos y ácidos grasos | |
| it | Difetto della biosintesi dei fosfolipidi, degli sfingolipidi e degli acidi grassi | |
| nl | Stoornis van fosfolipiden-, sfingolipiden- en vetzuurbiosynthese | |
| pt | Doença dos fosfolipídios, esfingolipídios e biossíntese de ácidos gordos | |
| pl | Zaburzenie biosyntezy fosfolipidów, sfingolipidów i kwasów tłuszczowych | |
| cs | Porucha biosyntézy fosfolipidů, sfingolipidů a mastných kyselin | |
| uk | Порушення біосинтезу фосфоліпідів, сфінголіпідів та жирних кислот | |
| zh | 磷脂、鞘脂和脂肪酸生物合成障碍 | |
| tr | Fosfolipidler, sfingolipidler ve yağ asitleri biyosentezindeki bozukluk |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0018117 | E | validated | |
| MONDO | 18117 | E | validated | |
| UMLS | C5680990 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:309005Disorder of lipid metabolism
rare inborn errors of metabolism; rare genetic diseases
Children (4):
- ORPHA:352306Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
- ORPHA:352309Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
- ORPHA:352312Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
- ORPHA:506334Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352301
- This record as JSON: /data/d/352301.json