Preferred Name

Familial Periodic Paralysis

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84709

code

C84709

DEFINITION

A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally.

FULL_SYN

Familial Periodic Paralysis

label

Familial Periodic Paralysis

Preferred_Name

Familial Periodic Paralysis

prefixIRI

Thesaurus:C84709

prefLabel

Familial Periodic Paralysis

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0030443

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0000995 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0000995 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/DOID_1029 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_1029 Human Disease Ontology / 人类疾病本体 LOOM