ORPHA:284811
Syndromic oculocutaneous albinism
- 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 | Syndromic oculocutaneous albinism | |
| fr | Albinisme oculocutané syndromique | |
| de | Okulokutaner Albinismus, syndromaler | |
| es | Albinismo oculocutáneo sindrómico | |
| it | Albinismo oculocutaneo sindromico | |
| nl | Syndromaal oculocutaan albinisme | |
| pt | Albinismo oculocutâneo sindromático | |
| pl | Syndromiczny albinizm oczno-skórny | |
| cs | Syndromický okulokutánní albinismus | |
| uk | Синдромний окулокутанний альбінізм | |
| zh | 综合征性眼皮肤白化病 | |
| tr | Sendromik okülokütanöz albinizm |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017305 | E | validated | |
| MONDO | 17305 | E | validated | |
| UMLS | C5681016 | 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 (3):
- ORPHA:183469Genetic hypopigmentation of the skin
rare genetic diseases - ORPHA:79376Hypopigmentation of the skin
rare skin diseases - ORPHA:98706Oculocutaneous or ocular albinism
rare genetic diseases; rare ophthalmic disorders
Children (6):
- ORPHA:167Chédiak-Higashi syndrome
- ORPHA:603494Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
- ORPHA:381Griscelli syndrome
- ORPHA:79430Hermansky-Pudlak syndrome
- ORPHA:2719Oculocerebral hypopigmentation syndrome, Cross type
- ORPHA:2720Oculocerebral hypopigmentation syndrome, Preus type
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/284811
- This record as JSON: /data/d/284811.json