About: congenital muscular dystrophy

Not logged in : Login

(Sponging disallowed)

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

About: 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)

Xref MGI. OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	physical disorder muscular dystrophy nodeID://b50937105 nodeID://b50937106 nodeID://b50937107
label	congenital muscular dystrophy
comment	Xref MGI. OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0050557
database_cross_reference	GARD:9138 ICD9CM:359.0 OMIM:254100 ORDO:97242 SNOMEDCT_US_2021_09_01:193221009 UMLS_CUI:C2937300
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim
http://purl.obolib...g/obo/IAO_0000115	A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.
is subClassOf of	Ullrich congenital muscular dystrophy Walker-Warburg syndrome muscular dystrophy-dystroglycanopathy Bethlem myopathy congenital muscular dystrophy with cataracts and intellectual disability arthrogryposis due to muscular dystrophy megaconial type congenital muscular dystrophy rigid spine muscular dystrophy 1 congenital muscular dystrophy 1B muscular dystrophy-dystroglycanopathy type B5 congenital merosin-deficient muscular dystrophy 1A muscular dystrophy-dystroglycanopathy type B6 congenital muscular dystrophy merosin-positive congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy due to LMNA mutation
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50937108

Faceted Search & Find service v1.17_git144 as of Jul 26 2024

Alternative Linked Data Documents: iSPARQL | ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 08.03.3331 as of Aug 25 2024, on Linux (x86_64-ubuntu_noble-linux-glibc2.38-64), Single-Server Edition (378 GB total memory, 36 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software