This HTML5 document contains 15 embedded RDF statements represented using HTML+Microdata notation.
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Namespace Prefixes
| Prefix | IRI |
|---|
| n5 | 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_0060700
- rdf:type
-
owl:Class
- rdfs:subClassOf
-
n2:DOID_0060699
- rdfs:label
-
familial hypocalciuric hypercalcemia 1
- wdrs:describedby
-
n5:doid.owl
- obo:id
-
DOID:0060700
- obo:hasDbXref
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OMIM:145980
ICD10CM:E83.5
ORDO:93372
- obo:hasExactSynonym
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familial hypocalciuric hypercalcemia type I
hypocalciuric hypercalcemia type I
HHC1
familial benign hypercalcemia 1
FHH type 1
- obo:hasOBONamespace
-
disease_ontology
- n2:IAO_0000115
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A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21.