This HTML5 document contains 27 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#
n4	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_0050436

rdf:type

owl:Class

rdfs:subClassOf

_:vb50936833 n2:DOID_225 n2:DOID_0050737

rdfs:label

mulibrey nanism

rdfs:comment

OMIM mapping confirmed by DO. [SN].

wdrs:describedby

n6:doid.owl

obo:id

DOID:0050436

obo:hasDbXref

UMLS_CUI:C0524582 ORDO:2576 OMIM:253250 GARD:95 SNOMEDCT_US_2021_09_01:81604003 NCI:C84906 MESH:D050336

obo:hasExactSynonym

Mulibrey growth disorder PERICARDIAL CONSTRICTION AND GROWTH FAILURE MUL Muscle-Liver-Brain-Eye Nanism Perheentupa Syndrome

obo:hasOBONamespace

disease_ontology

obo:inSubset

n4:NCIthesaurus

n2:IAO_0000115

A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene.

Subject Item

_:vb50936833

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000148

wdrs:describedby

n6:doid.owl