ORPHA:98357
Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
Synonyms: Autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- 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 recessive disease with focal palmoplantar keratoderma as a major feature | Autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature |
| fr | Maladie autosomique récessive avec kératodermie palmoplantaire focale comme manifestation majeure | Maladie autosomique récessive avec hyperkératose palmoplantaire focale comme manifestation majeure |
| de | Autosomal-rezessive Krankheit mit fokaler Palmoplantarkeratose als Hauptmerkmal | |
| es | Enfermedad autosómica recesiva con queratodermia palmoplantar focal como característica principal | Enfermedad autosómica recesiva con hiperqueratosis palmoplantar focal como característica principal |
| it | Malattia autosomica recessiva con cheratoderma palmoplantare focale come segno cardinale | Malattia autosomica recessiva con ipercheratosi palmoplantare focale come segno cardinale |
| nl | Autosomaal recessieve ziekte met focale palmoplantaire keratodermie als hoofdkenmerk | Autosomaal recessieve ziekte met focale palmoplantaire hyperkeratose als hoofdkenmerk |
| pt | Doença autossómica recessiva com queratodermia palmoplantar focal como característica principal | Doença autossómica recessiva com hiperqueratose palmoplantar focal como característica principal |
| pl | Autosomalna recesywna choroba z ogniskowym rogowcem dłoniowo-podeszwowym jako głównym objawem | Autosomalna recesywna choroba z ogniskową hiperkeratozą dłoniowo-podeszwową jako głównym objawem |
| cs | Autozomálně recesivní choroba s fokálním palmoplantárním keratoderma jakožto hlavním rysem | Autozomálně recesivní choroba s fokální palmoplantární hyperkeratózou jakožto hlavním rysem |
| uk | Аутосомно-рецесивне захворювання з вогнищевою долонно-підошовною кератодермією як основною ознакою | Аутосомно-рецесивне захворювання з вогнищевим долонно-підошовним гіперкератозом як основною ознакою |
| zh | 以局灶掌跖角化为主要表现的常染色体隐性遗传性疾病 | 以局灶性掌跖角化过度为主要表现的常染色体隐性遗传性疾病 |
| tr | Esas klinik özelliği fokal palmoplantar keratoderma olan otozomal resesif hastalık | Esas klinik özelliği fokal palmoplantar hiperkeratoz olan otozomal çekinik hastalık |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680347 | 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:307871Disease with focal palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases
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Genes
0 directOrphanet records no gene directly on this code.
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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/98357
- This record as JSON: /data/d/98357.json