Brody disease - CISMeF

Preferred Label : Brody disease;

Symbol : BROD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Brody myopathy;

Inheritance : Autosomal recessive; ? autosomal dominant in one family.;

Prefixed ID : #601003;

Détails

Origin ID

601003;

UMLS CUI

C1832918;

Automatic exact mappings (from CISMeF team)
- Myopathy with deficiency of sarcotubular calcium binding [ICD-11 More detail]
Currated CISMeF NLP mapping
- Brody myopathy [DO Concept]
- Brody myopathy [MeSH concept]
- Brody myopathy [ORDO Disease]
- Brody myopathy (disorder) [SNOMED CT concept]
- brody myopathy [MeSH Supplementary Concept]
DO Cross reference
- Brody myopathy [DO Concept]
Genes related to phenotype
- Atpase, ca(2+)-transporting, fast-twitch 1 [OMIM gene]
HPO term(s)
- Abnormal reflex [HPO term]
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Difficulty running [HPO term]
- EMG: myotonic discharges [HPO term]
- Exercise-induced muscle cramps [HPO term]
- Exercise-induced muscle stiffness [HPO term]
- Fasciculations [HPO term]
- Flexion contracture [HPO term]
- Malignant hyperthermia [HPO term]
- Motor delay [HPO term]
- Muscle weakness [HPO term]
- Myalgia [HPO term]
- Myokymia [HPO term]
- Myotonia [HPO term]
- Neonatal onset [HPO term]
- Percussion myotonia [HPO term]
- Skeletal muscle hypertrophy [HPO term]
- Somatic sensory dysfunction [HPO term]
ORDO concept(s)
- Brody myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brody myopathy [ORDO Disease]
- Brody myopathy [MeSH concept]
- Brody myopathy [DO Concept]
- Brody myopathy (disorder) [SNOMED CT concept]
- brody myopathy [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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