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Namespace Prefixes

Prefix	IRI
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n6	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
dc	http://purl.org/dc/elements/1.1/
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

_:vb50940297

rdf:type

owl:Axiom

wdrs:describedby

n5:doid.owl

dc:type

n6:ECO_0007636

owl:annotatedProperty

n6:IAO_0000115

owl:annotatedSource

n6:DOID_0080051

owl:annotatedTarget

An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot.

obo:hasDbXref

url:http://www.orpha.net/data/patho/GB/uk-hunter05.pdf url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=506 url:http://www.ncbi.nlm.nih.gov/omim/201250