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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_0112322
- rdf:type
-
owl:Class
- rdfs:subClassOf
-
n2:DOID_0060264
- rdfs:label
-
pontocerebellar hypoplasia type 1
- wdrs:describedby
-
n6:doid.owl
- obo:id
-
DOID:0112322
- obo:hasDbXref
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GARD:10704
ORDO:2254
- obo:hasExactSynonym
-
PCH1
pontocerebellar hypoplasia with anterior horn cell disease
pontocerebellar hypoplasia with infantile spinal muscular atrophy
Norman disease
- obo:hasOBONamespace
-
disease_ontology
- n2:IAO_0000115
-
A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia.