This HTML5 document contains 24 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
n7	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_0060337

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_225 _:vb50938666 n2:DOID_0050737

rdfs:label

CEDNIK syndrome

rdfs:comment

Flybase.

wdrs:describedby

n7:doid.owl

obo:id

DOID:0060337

obo:created_by

emitraka

obo:creation_date

2015-05-11T10:31:37Z

obo:hasDbXref

OMIM:609528 UMLS_CUI:C1836033 ORDO:66631 MESH:C537943 SNOMEDCT_US_2021_09_01:722385008

obo:hasExactSynonym

cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome

obo:hasOBONamespace

disease_ontology

obo:inSubset

n8:DO_rare_slim n8:DO_FlyBase_slim

n2:IAO_0000115

A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis.

Subject Item

_:vb50938666

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000148

wdrs:describedby

n7:doid.owl