Human Disease Ontology

Last uploaded: November 1, 2024
Preferred Name

familial periodic paralysis
Synonyms
Definitions

A metal metabolism disorder that 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, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells.

ID

http://purl.obolibrary.org/obo/DOID_1029

database_cross_reference

ICD10CM:G72.3

MESH:D010245

SNOMEDCT_US_2023_03_01:193241004

UMLS_CUI:C0030443

GARD:6422

NCI:C84709

definition

A metal metabolism disorder that 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, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells.

has_obo_namespace

disease_ontology

id

DOID:1029

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

familial periodic paralysis

notation

DOID:1029

prefLabel

familial periodic paralysis

subClassOf

http://purl.obolibrary.org/obo/DOID_896

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_1029 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_1029 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_1029 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_1029 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_1029 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_1029 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0000995 MONDO LOOM
http://purl.bioontology.org/ontology/RCTV2/F393.00 RCTV2 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84709 NCIT LOOM
http://purl.bioontology.org/ontology/CSP/1849-3266 CRISP LOOM
http://purl.obolibrary.org/obo/NCIT_C84709 BERO LOOM
http://purl.bioontology.org/ontology/RCD/XE15q RCD LOOM
http://purl.jp/bio/4/id/200906005412007261 IOBC LOOM
http://purl.bioontology.org/ontology/MEDDRA/10016208 MEDDRA LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1029 NATPRO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/267607008 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/MONDO_0000995 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0000995 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0000995 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0000995 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0000995 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Familial_Periodic_Paralysis CSEO LOOM
http://purl.obolibrary.org/obo/DOID_1029 DTO LOOM
http://purl.obolibrary.org/obo/DOID_1029 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1029 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1029 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_1029 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1029 FNS-H LOOM