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Namespace Prefixes

PrefixIRI
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n4http://purl.obolibrary.org/obo/
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dchttp://purl.org/dc/elements/1.1/
obohttp://www.geneontology.org/formats/oboInOwl#
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
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n4:ECO_0007645 n4:ECO_0007637
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A Syggve-Melchior-Clausen disease characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q.
obo:hasDbXref
url:https://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia url:https://www.ncbi.nlm.nih.gov/pubmed/1216821