ORPHA:268337
Autosomal recessive intermediate Charcot-Marie-Tooth disease
Synonyms: RI-CMT
- Type
- Clinical group
- 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 intermediate Charcot-Marie-Tooth disease | RI-CMT |
| fr | Maladie de Charcot-Marie-Tooth intermédiaire autosomique récessive | = en |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, intermediäre | = en |
| es | Enfermedad de Charcot-Marie-Tooth intermedia autosómica recesiva | = en |
| it | Malattia di Charcot-Marie-Tooth autosomica recessiva | = en |
| nl | Autosomaal recessieve intermediaire ziekte van Charcot-Marie-Tooth | = en |
| pt | Doença de Charcot-Marie-Tooth intermédia autossómica dominante | = en |
| pl | Autosomalna recesywna pośrednia choroba Charcota, Mariego i Tootha | = en |
| cs | Autozomálně recesivní středně závažná Charcotova-Marieova-Toothova nemoc | RI-CMT · Autozomálně recesivní středně závažná Charcot-Marie-Toothova nemoc |
| uk | Аутосомно-рецесивна помірно виражена хвороба Шарко-Марі-Тута | = en |
| zh | 常染色体隐性中间型夏科-马里-图斯病 | = en |
| tr | Otozomal resesif geçişli Charcot-Marie-Tooth hastalığı | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017058 | E | validated | |
| MONDO | 17058 | E | validated | |
| UMLS | C5679732 | E | validated | |
| GARD | 12452 | 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:476123Intermediate Charcot-Marie-Tooth disease
rare genetic diseases; rare neurological diseases
Children (4):
- ORPHA:217055Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
- ORPHA:254334Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
- ORPHA:369867Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
- ORPHA:435998Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
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/268337
- This record as JSON: /data/d/268337.json