ORPHA:207073

Qualitative or quantitative defects of dysferlin

Synonyms: Dysferlinopathy

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.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Qualitative or quantitative defects of dysferlin	Dysferlinopathy
fr	Anomalie qualitative ou quantitative de la dysferline	Dysferlinopathie
de	Dysferlin, qualitative oder quantitative Defekte
es	Defectos cualitativos o cuantitativos de la disferlina	Disferlinopatía
it	Deficit qualitativi o quantitativi di disferlina
nl	Kwalitatieve of kwantitatieve defecten van dysferline	Dysferlinopathie
pt	Deficiências qualitativas ou quantitativas da disferlina
pl	Defekt jakościowy lub ilościowy dysferliny	Dysferlinopatia
cs	Kvalitativní nebo kvantitativní defekty dysferlinu	Dysferlinopatie
uk	Якісні або кількісні дефекти дисферліну	Дисферлінопатія
zh	去铁胺的定性或定量缺陷	dysferlin蛋白病
tr	Disferlinin kalitatif veya kantitatif defekt	Disferlinopati

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
MONDO	0016145	E	validated
MONDO	16145	E	validated
MeSH	C537995	E	validated
UMLS	C2931687	E	validated
GARD	2003	E	validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (1):

ORPHA:207049Qualitative or quantitative protein defects in neuromuscular diseases
rare genetic diseases

Children (4):

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/207073
This record as JSON: /data/d/207073.json