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Use latest version of Orphanet #21
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2.0 distinguishes between exact an inexact mappings (axiom annotations on the xrefs) |
"Attributed" |
Not sure we can trust these. Took a random example:
ie.
Except http://omim.org/entry/178550 seems to refer to something different from the Orphanet concept (which is idiopathic) "This rare disorder is characterized by the triad of hemoptysis, iron-deficiency anemia, and transient pulmonary infiltrates by roentgenography. The underlying pathogenetic mechanism is a propensity to recurrent intrapulmonary hemorrhage." |
This issue was moved to monarch-initiative/monarch-disease-ontology-RETIRED#30 |
Just noticed our pipeline was hardwired to download v1.2...
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