Nemaline myopathy 9

Preferred Label : Nemaline myopathy 9;

Symbol : NEM9;

CISMeF acronym : NEM9;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the kelch-like 41 gene (KLHL41, 607701.0001);

Prefixed ID : #615731;

Details

Origin ID

615731;

UMLS CUI

C3810384;

CISMeF manual mappings
- nemaline myopathy 9 [DO Concept]
DO Cross reference
- nemaline myopathy 9 [DO Concept]
Genes related to phenotype
- Kelch-like 41 [OMIM gene]
HPO term(s)
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Breech presentation [HPO term]
- Cleft palate [HPO term]
- Fetal akinesia sequence [HPO term]
- High palate [HPO term]
- Micrognathia [HPO term]
- Motor delay [HPO term]
- Muscle weakness [HPO term]
- Narrow chest [HPO term]
- Respiratory insufficiency [HPO term]
- Scoliosis [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Childhood-onset nemaline myopathy [ORDO Disease]
- Intermediate nemaline myopathy [ORDO Disease]
- Severe congenital nemaline myopathy [ORDO Disease]
- Typical nemaline myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- nemaline myopathy 9 [DO Concept]

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