ORPHA:209224

Myotilinopathy

Synonyms: Qualitative or quantitative defects of myotilin

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	Myotilinopathy	Qualitative or quantitative defects of myotilin
fr	Myotilinopathie	Anomalie qualitative ou quantitative de la myotiline
de	Myotilin, qualitative oder quantitative Defekte
es	Anomalías cualitativas o cuantitativas de miotilina
it	Alterazioni qualitative o quantitative di miotilina
nl	Kwalitatieve of kwantitatieve defecten van myotiline
pt	Deficiências qualitativas e quantitativas de miotilina
pl	Defekty jakościowe lub ilościowe miotylina	= en
cs	Kvalitativní nebo kvantitativní defekty myotilinu	= en
uk	Міотилінопатія	Якісні або кількісні дефекти міотиліну
zh	Myotilin相关性肌原纤维肌病	myotilin蛋白定性或定量缺陷
tr	Myotilinopati	Miyotilinin kalitatif veya kantitatif defektleri

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-11	8C76	NTBT	index	validated
MONDO	16201	E		validated
MeSH	C563775	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 (2):

ORPHA:593Myofibrillar myopathy
rare genetic diseases; rare neurological diseases
ORPHA:207049Qualitative or quantitative protein defects in neuromuscular diseases
rare genetic diseases

Children (2):

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/209224
This record as JSON: /data/d/209224.json