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I suggest to compare MEDIC and MONDO. Reviewers might bring this up anyway.
http://ctdbase.org/downloads/#alldiseases
drseb updated
7 years ago
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Related issues
* #8 (initial medgen mapping)
* #60 (availability as xrefs)
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continued from https://github.com/monarch-initiative/monarch-disease-ontology/issues/78
I have marked problem axioms with a `*` below. The synonyms should be NARROW, not EXACT.
The best Orphanet cla…
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Current docs state:
```
/**
The ID defined by the external onotology source.
(e.g. `http://purl.obolibrary.org/obo/OBI_0001271`)
*/
string id;
```
This is fairly open ended and we can imag…
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Def is:
A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and **is caused_by a mutation on the MECP2 gene on the X chromosome**. Infant…
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I notice that occassionally there are parent-child or "is a" relationships between two omim concepts. Can you explain when and why this may happen? The OMIM concepts I am specifically referring to ar…
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carried from: https://github.com/monarch-initiative/monarch-disease-ontology/issues/137
```
[Term]
id: DOID:6032
name: juvenile type testicular granulosa cell tumor
namespace: disease_ontology
alt_id…
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MESH_C536046 Osteogenesis, imperfecta, type 5
MESH_C567042 Osteogenesis Imperfecta, Type V
These terms are duplicates and MonDO is trying to make them subclasses but there is a low probability scores…
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Request a new term for 'Pruritus caused by medication'
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http://purl.obolibrary.org/obo/DOID_4464