About: Fukuyama congenital muscular dystrophy

Not logged in : Login

(Sponging disallowed)

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

About: Fukuyama congenital muscular dystrophy Goto Sponge NotDistinct Permalink

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

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	congenital muscular dystrophy-dystroglycanopathy type A nodeID://b50937114 nodeID://b50937115 nodeID://b50937116
label	Fukuyama congenital muscular dystrophy
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0050559
database_cross_reference	GARD:6475 OMIM:253800 ORDO:272
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50937117

Faceted Search & Find service v1.17_git151 as of Feb 20 2025

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, 78 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software