ORPHA:209038

Qualitative or quantitative defects of myofibrillar proteins

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 myofibrillar proteins
fr	Anomalie qualitative ou quantitative des protéines myofibrillaires
de	Myofibrilläres Protein, qualitative oder quantitative Defekte
es	Anomalías cualitativas o cuantitativas de proteínas miofibrilares
it	Alterazioni qualitative o quantitative delle proteine miofibrillari
nl	Kwalitatieve of kwantitatieve defecten van myofibrillaire eiwitten
pt	Deficiências qualitativas e quantitativas de proteína miofibrilares
pl	Defekty jakościowe lub ilościowe białek miofibrylarnych
cs	Kvalitativní nebo kvantitativní defekty myofibrilárních proteinů
uk	Якісні або кількісні дефекти міофібрилярних білків
zh	肌原纤维蛋白定性或定量缺陷
tr	Miyofibriler proteinlerin kalitatif veya kantitatif defekti

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
MONDO	0016186	E	validated
MONDO	16186	E	validated
UMLS	C5680851	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/209038
This record as JSON: /data/d/209038.json