ORPHA:281244
Autosomal ichthyosis syndrome with other associated 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal ichthyosis syndrome with other associated signs | |
| fr | Ichtyose syndromique autosomique avec d'autres signes associés | |
| de | Ichthyose-Syndrom, autosmales, mit weiteren assoziierten Symptomen | |
| es | Síndrome de ictiosis autosómica con otros signos asociados | |
| it | Ittiosi sindromica autosomica con altri segni correlati | |
| nl | Autosomaal ichthyosis-syndroom met andere geassocieerde tekenen | |
| pt | Síndrome ictiose autossómica com outros sinais associados | |
| pl | Autosomalny zespół rybiej łuski z innymi objawami towarzyszącymi | |
| cs | Autozomálně dědičné syndromy s ichtyózou a dalšími přidruženými znaky | |
| uk | Синдром аутосомного іхтіозу з іншими асоційованими ознаками | |
| zh | 常染色体遗传鱼鳞病综合征伴其他相关体征 | |
| tr | Diğer ilişkili belirtiler ile seyreden otozomal iktiyoz sendromu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681024 | 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 (12):
- ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome
- ORPHA:91131DK1-CDG
- ORPHA:2274Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
- ORPHA:2278Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
- ORPHA:2272Ichthyosis-oral and digital anomalies syndrome
- ORPHA:88621Ichthyosis-prematurity syndrome
- ORPHA:363992Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
- ORPHA:477KID syndrome
- ORPHA:3151Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
- ORPHA:98907Neutral lipid storage disease with ichthyosis
- ORPHA:75325Osteosclerosis-ichthyosis-premature ovarian failure syndrome
- ORPHA:3055X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:1376OBSOLETE: Congenital cataract-ichthyosis syndrome referred to · inactive
- ORPHA:2267OBSOLETE: Ichthyosis-cheek-eyebrow syndrome referred to · inactive
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/281244
- This record as JSON: /data/d/281244.json