This HTML5 document contains 22 embedded RDF statements represented using HTML+Microdata notation.
The embedded RDF content will be recognized by any processor of HTML5 Microdata.
Namespace Prefixes
| Prefix | IRI |
|---|
| n6 | https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/ |
| n2 | http://purl.obolibrary.org/obo/ |
| wdrs | http://www.w3.org/2007/05/powder-s# |
| rdfs | http://www.w3.org/2000/01/rdf-schema# |
| obo | http://www.geneontology.org/formats/oboInOwl# |
| rdf | http://www.w3.org/1999/02/22-rdf-syntax-ns# |
| owl | http://www.w3.org/2002/07/owl# |
| xsdh | http://www.w3.org/2001/XMLSchema# |
Statements
- Subject Item
- n2:DOID_0110156
- rdf:type
-
owl:Class
- rdfs:subClassOf
-
n2:DOID_0050539
_:vb50942597
n2:DOID_0050737
- rdfs:label
-
Charcot-Marie-Tooth disease type 2B1
- wdrs:describedby
-
n6:doid.owl
- obo:id
-
DOID:0110156
- obo:hasDbXref
-
ORDO:98856
OMIM:605588
ICD10CM:G60.0
- obo:hasExactSynonym
-
CMT2B1
autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1
autosomal recessive Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth neuropathy type 2B1
autosomal recessive axonal CMT4C1
Charcot-Marie-Tooth disease neuronal type 2B1
- obo:hasOBONamespace
-
disease_ontology
- n2:IAO_0000115
-
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.
- Subject Item
- _:vb50942597
- rdf:type
-
owl:Restriction
- owl:onProperty
-
n2:IDO_0000664
- owl:someValuesFrom
-
n2:GENO_0000148
- wdrs:describedby
-
n6:doid.owl