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https://monarchinitiative.org/disease/Orphanet:284973
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```
[Term]
id: DOID:0090007
name: immunodeficiency-centromeric instability-facial anomalies syndrome
namespace: doid
def: "An autosomal recessive disease characterized by immunodeficiency, rearra…
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>If this is a request for a new term, please provide us with the folloing information (c.f., https://github.com/obophenotype/human-phenotype-ontology/wiki/How-to-make-a-good-term-request).
>1. Pref…
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@cmungall tapped me to follow the new Disease Association Format spec work and get required relations amended or added to the RO.
**(1) Amendments:** DAF editors requested that the definitions of…
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Hi - when I try and load:
https://github.com/monarch-initiative/monarch-disease-ontology/blob/master/src/mondo/mondo.owl
into Protege 5 I get an error:
org.semanticweb.owlapi.rdf.rdfxml.parse…
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Hi Peter,
We're updating our HPO load and I wanted to pass along the results of one of our QC reports to you. The excel spreadsheet has entries in the HPO annotation file where the OMIM ID is invalid…
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```
is_a DOID:162 ! cancer
is_a DOID:0050686 ! organ system cancer
is_a DOID:170 ! endocrine gland cancer
is_a DOID:1785 ! pituitary cancer
is_a DOID:5716 ! hormone produ…
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- 90 % Complete Overall.
Prepare for the **Hackathon**.
Making progress towards these aims:
* Consolidated **data model** of our heterogeneous sources: [55%]
* Clinical
* Environmental
…
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hp-edit.owl brings in external ontologies like CL, GO, Uberon, NCIT to use in logical definitions.
The pattern is always something like
HP = has-part some Q and inheres-in some X ...
neve…
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I think these two diseases are similar in name but not in the characteristics, so I don't think Shprintzen-Goldberg syndrome should be a SubClassOf Goldberg-Shprintzen megacolon syndrome.
I'm not q…