Reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset

Preferred Label : Reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset;

Symbol : RBMX1A;

CISMeF acronym : RBMX1A;

Type : Phenotype, molecular basis known;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the four-and-a-half LIM domains 1 gene ().;

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #300717;

Détails

Origin ID

300717;

UMLS CUI

C4225423;

Automatic exact mappings (from CISMeF team)
- Reducing body myopathy [ORDO Disease]
Broader ORDO disease(s)
- Reducing body myopathy [ORDO Disease]
Currated CISMeF NLP mapping
- myopathy, reducing body, X-Linked, Early-Onset, severe [MeSH concept]
- myopathy, reducing body, X-Linked, Early-Onset, severe [MeSH Supplementary Concept]
DO Cross reference
- reducing body myopathy 1A [DO Concept]
Genes related to phenotype
- Four-and-a-half lim domains 1 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Flexion contracture [HPO term]
- Hyporeflexia [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Proximal muscle weakness [HPO term]
- Rapidly progressive [HPO term]
- Respiratory insufficiency [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Reducing body myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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