Human Disease Ontology

Last uploaded: November 1, 2024
Preferred Name

Unverricht-Lundborg syndrome
Synonyms

Unverricht's disease

Unverricht - Lundborg disease

Unverricht-Lundborg disease

Definitions

A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline. OMIM mapping confirmed by DO. [LS].

ID

http://purl.obolibrary.org/obo/DOID_3535

comment

OMIM mapping confirmed by DO. [LS].

database_cross_reference

UMLS_CUI:C0751785

SNOMEDCT_US_2023_03_01:192847001

MESH:D020194

NCI:C179710

GARD:3876

definition

A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline.

has exact synonym

Unverricht's disease

Unverricht - Lundborg disease

Unverricht-Lundborg disease

has_obo_namespace

disease_ontology

id

DOID:3535

in_subset

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

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

label

Unverricht-Lundborg syndrome

notation

DOID:3535

prefLabel

Unverricht-Lundborg syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_891

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_3535 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_3535 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_3535 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_3535 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_3535 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_3535 FNS-H SAME_URI
http://purl.obolibrary.org/obo/DOID_3535 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3535 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3535 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_3535 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3535 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_3535 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.875 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0009698 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0009698 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009698 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009698 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009698 DOVES LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/230423006 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/OMIT_0020110 OMIT LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12725 BIRNLEX LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12725 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12725 NIFSTD LOOM
http://purl.jp/bio/4/id/200906063627596055 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D020194 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D020194 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.940 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/X006V RCD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.490.250.650.900 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3535 NATPRO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038245 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/MESH/D020194 MESH LOOM