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Namespace Prefixes

PrefixIRI
n9https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
skoshttp://www.w3.org/2004/02/skos/core#
rdfshttp://www.w3.org/2000/01/rdf-schema#
obohttp://www.geneontology.org/formats/oboInOwl#
n6http://purl.obolibrary.org/obo/doid#
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
n2:DOID_1062
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_447
rdfs:label
Fanconi syndrome
rdfs:comment
Xref MGI. OMIM mapping confirmed by DO. [SN].
skos:exactMatch
MESH:D005198
wdrs:describedby
n9:doid.owl
obo:id
DOID:1062
obo:hasAlternativeId
DOID:5956
obo:hasDbXref
NCI:C3034 OMIM:PS134600 GARD:9118 ORDO:3337 UMLS_CUI:C0015624 SNOMEDCT_US_2021_09_01:40488004 NCI:C4377 SNOMEDCT_US_2021_09_01:236468006 UMLS_CUI:C0341703 MESH:D005198
obo:hasExactSynonym
Lignac-Fanconi syndrome Infantile nephropathic cystinosis De Toni-Fanconi syndrome deToni Fanconi syndrome adult Fanconi syndrome Fanconi-de-Toni syndrome Congenital Fanconi syndrome adult Fanconi Anemia Fanconi-de Toni syndrome
obo:hasOBONamespace
disease_ontology
obo:inSubset
n6:DO_rare_slim n6:NCIthesaurus
n2:IAO_0000115
A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.