ORPHA:281238
Autosomal ichthyosis syndrome with prominent neurologic signs
- 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 | Autosomal ichthyosis syndrome with prominent neurologic signs | |
| fr | Ichtyose syndromique autosomique avec signes neurologiques prédominants | |
| de | Ichthyose-Syndrom, autosmales, mit prominenten neurologischen Symptomen | |
| es | Síndrome de ictiosis autosómica con signos neurológicos predominantes | |
| it | Ittiosi sindromica autosomica con segni neurologici prominenti | |
| nl | Autosomale ichthyosis-syndroom met opvallende neurologische tekenen | |
| pt | Síndrome ictiose autossómica com sinais neurológicos prominentes | |
| pl | Autosomalny zespół rybiej łuski ze znacznymi objawami neurologicznymi | |
| cs | Autozomálně dědičné syndromy s ichtyózou a dominujícími neurologickými znaky | |
| uk | Синдром аутосомного іхтіозу з вираженими неврологічними ознаками | |
| zh | 伴有明显神经系统体征的常染色体遗传鱼鳞病综合征 | |
| tr | Belirgin nörolojik bulgular ile seyreden otozomal iktiyoz sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17272 | E | validated | |
| UMLS | C5681025 | 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:281217Autosomal ichthyosis syndrome
rare genetic diseases; rare skin diseases
Children (7):
- ORPHA:773Adult Refsum disease
- ORPHA:352333Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
- ORPHA:2271Congenital ichthyosis-microcephalus-tetraplegia syndrome
- ORPHA:2269Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
- ORPHA:171851MEDNIK syndrome
- ORPHA:2671Neu-Laxova syndrome
- ORPHA:816Sjögren-Larsson 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/281238
- This record as JSON: /data/d/281238.json