ORPHA:98505
Genetic motor neuron disease
Synonyms: Genetic anterior horn cell disease
- 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 | Genetic motor neuron disease | Genetic anterior horn cell disease |
| fr | Maladie génétique du motoneurone | Maladie génétique de la corne antérieure |
| de | Krankheit der Vorderhornzellen, autosomal-dominant oder rezessive | |
| es | Enfermedad genética de la motoneurona | Enfermedad de las células del cuerno anterior, autosómica dominante o recesiva |
| it | Malattia delle cellule delle corna anteriori, autosomica dominante o recessiva | |
| nl | Genetische motorneuronziekte | Genetische aandoening van voorhoorncellen |
| pt | Doença das células dos cornos anteriores, autossómica dominante ou autossómica recessiva | |
| pl | Genetyczna choroba neuronu ruchowego | Gentyczna choroba komórek przedniego rogu rdzenia |
| cs | Geneticky podmíněná onemocnění motoneuronů | Geneticky podmíněná onemocnění předních rohů míšních |
| uk | Генетично обумовлене захворювання мотонейронів | Генетичне захворювання клітин переднього рогу |
| zh | 遗传性运动神经元病 | 遗传性前角细胞病 |
| tr | Genetik motor nöron hastalığı | Genetik ön boynuz hücre hastalığı |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680368 | 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 (2):
- ORPHA:183497Genetic neuromuscular disease
rare genetic diseases - ORPHA:98503Motor neuron disease
rare neurological diseases
Children (13):
- ORPHA:357043Amyotrophic lateral sclerosis type 4
- ORPHA:211037Autosomal dominant proximal spinal muscular atrophy
- ORPHA:206701Bulbospinal muscular atrophy
- ORPHA:53739Distal hereditary motor neuropathy
- ORPHA:293168Infantile-onset ascending hereditary spastic paralysis
- ORPHA:300605Juvenile amyotrophic lateral sclerosis
- ORPHA:247604Juvenile primary lateral sclerosis
- ORPHA:137867Madras motor neuron disease
- ORPHA:85146Neurogenic scapuloperoneal syndrome, Kaeser type
- ORPHA:486811Prenatal-onset spinal muscular atrophy with congenital bone fractures
- ORPHA:70Proximal spinal muscular atrophy
- ORPHA:431255Scapuloperoneal spinal muscular atrophy
- ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy 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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98505
- This record as JSON: /data/d/98505.json