This HTML5 document contains 15 embedded RDF statements represented using HTML+Microdata notation.
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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_0060702
- rdf:type
-
owl:Class
- rdfs:subClassOf
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n2:DOID_0060699
- rdfs:label
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familial hypocalciuric hypercalcemia 3
- wdrs:describedby
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n6:doid.owl
- obo:id
-
DOID:0060702
- obo:hasDbXref
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OMIM:600740
ORDO:101050
ICD10CM:E83.5
GARD:2878
- obo:hasExactSynonym
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HHC3
FHH type 3
hypocalciuric hypercalcemia type III
familial hypocalciuric hypercalcemia type 3
- obo:hasOBONamespace
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disease_ontology
- n2:IAO_0000115
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A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13.