This HTML5 document contains 24 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

Prefix	IRI
n4	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#
n6	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_0060854

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0050737 n2:DOID_4479 _:vb50939502

rdfs:label

autosomal recessive pseudohypoaldosteronism type 1

wdrs:describedby

n4:doid.owl

obo:id

DOID:0060854

obo:hasDbXref

NCI:C123251 MESH:D011546 GARD:4552 OMIM:264350 ORDO:756 SNOMEDCT_US_2021_09_01:43941006 ORDO:171876 UMLS_CUI:C0268436

obo:hasExactSynonym

PHA1B autosomal recessive PHA 1

obo:hasOBONamespace

disease_ontology

obo:inSubset

n6:NCIthesaurus

n2:IAO_0000115

A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G.

Subject Item

_:vb50939502

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000148

wdrs:describedby

n4:doid.owl