About: congenital myasthenic syndrome

Not logged in : Login

(Sponging disallowed)

Facets (new session)
Description
Metadata
Settings
- Rule:
- Inverse Functional Properties:
- "Same As":

About: congenital myasthenic syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Xref MGI.

Attributes	Values
type	Class
subClassOf	physical disorder neuromuscular junction disease nodeID://b50952142 nodeID://b50952143
label	congenital myasthenic syndrome
comment	Xref MGI.
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:3635
database_cross_reference	GARD:11902 MESH:D020294 NCI:C84647 OMIM:PS601462 ORDO:590 SNOMEDCT_US_2021_09_01:230672006 UMLS_CUI:C0751882
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).
is subClassOf of	congenital myasthenic syndrome 22 congenital myasthenic syndrome 8 congenital myasthenic syndrome 15 congenital myasthenic syndrome 7 congenital myasthenic syndrome 12 congenital myasthenic syndrome 20 congenital myasthenic syndrome 1B congenital myasthenic syndrome 1A congenital myasthenic syndrome 3C congenital myasthenic syndrome 3B congenital myasthenic syndrome 3A congenital myasthenic syndrome 5 congenital myasthenic syndrome 10 congenital myasthenic syndrome 14 congenital myasthenic syndrome 9 congenital myasthenic syndrome 6 congenital myasthenic syndrome 21 congenital myasthenic syndrome 19 congenital myasthenic syndrome 17 congenital myasthenic syndrome 11 congenital myasthenic syndrome 13 congenital myasthenic syndrome 4B congenital myasthenic syndrome 4A congenital myasthenic syndrome 4C congenital myasthenic syndrome 2C congenital myasthenic syndrome 2A congenital myasthenic syndrome 16 congenital myasthenic syndrome 18
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50952144

Faceted Search & Find service v1.17_git149 as of Dec 03 2024

Alternative Linked Data Documents: iSPARQL | ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 08.03.3332 as of Jan 29 2025, on Linux (x86_64-generic-linux-glibc25), Single-Server Edition (378 GB total memory, 22 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software