Episodic pain syndrome, familial, 3

Preferred Label : Episodic pain syndrome, familial, 3;

Symbol : FEPS3;

CISMeF acronym : FEPS3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the voltage-gated sodium channel, type XI, alpha subunit gene (SCN11A, 604385.0002);

Prefixed ID : #615552;

Détails

Origin ID

615552;

UMLS CUI

C3809899;

Automatic exact mappings (from CISMeF team)
- Familial episodic pain syndrome with predominantly lower limb involvement [ORDO Disease]
Currated CISMeF NLP mapping
- Episodic Pain Syndrome, Familial, 3 [NCIt concept]
- familial episodic pain syndrome 3 [DO Concept]
DO Cross reference
- familial episodic pain syndrome 3 [DO Concept]
Genes related to phenotype
- Sodium voltage-gated channel, alpha subunit 11 [OMIM gene]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Pain [HPO term]
ORDO concept(s)
- Familial episodic pain syndrome [ORDO Disease]
- Familial episodic pain syndrome with predominantly lower limb involvement [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Episodic Pain Syndrome, Familial, 3 [NCIt concept]
- familial episodic pain syndrome 3 [DO Concept]

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

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