ORPHA:79195
Sterol biosynthesis disorder
- 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 | Sterol biosynthesis disorder | |
| fr | Anomalie de la biosynthèse du stérol | |
| de | Sterolbiosynthesedefekt | |
| es | Enfermedad de biosíntesis de esteroles | |
| it | Malattia della biosintesi degli steroli | |
| nl | Stoornis van sterolbiosynthese | |
| pt | Doença da biossíntese dos esteróis | |
| pl | Zaburzenie biosyntezy steroli | |
| cs | Porucha biosyntézy sterolů | |
| uk | Порушення біосинтезу стеролів | |
| zh | 甾醇生物合成异常 | |
| tr | Sterol biyosentez bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0019240 | E | validated | |
| MONDO | 19240 | E | validated | |
| UMLS | C5681287 | 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 (2):
- ORPHA:139009Developmental anomaly of metabolic origin
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:79226Sterol metabolism disorder
rare inborn errors of metabolism; rare genetic diseases
Children (11):
- ORPHA:139CHILD syndrome
- ORPHA:251383CK syndrome
- ORPHA:35107Desmosterolosis
- ORPHA:1426Greenberg dysplasia
- ORPHA:46059Lathosterolosis
- ORPHA:401973MEND syndrome
- ORPHA:309025Mevalonate kinase deficiency
- ORPHA:488168Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
- ORPHA:818Smith-Lemli-Opitz syndrome
- ORPHA:730300Squalene synthase deficiency
- ORPHA:35173X-linked dominant chondrodysplasia punctata
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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79195
- This record as JSON: /data/d/79195.json