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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#
n8	http://purl.obolibrary.org/obo/doid#
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_0060278

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0060264

rdfs:label

pontocerebellar hypoplasia type 9

rdfs:comment

NT MGI.

wdrs:describedby

n6:doid.owl

obo:id

DOID:0060278

obo:created_by

emitraka

obo:creation_date

2015-02-04T14:28:28Z

obo:hasDbXref

ICD10CM:Q04.3 OMIM:615809 ORDO:369920

obo:hasOBONamespace

disease_ontology

obo:inSubset

n8:DO_rare_slim

n2:IAO_0000115

A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene.