|
1 | | -"""A configuration for assembling mappings for disease terms.""" |
| 1 | +""" |
| 2 | +The SeMRA Disease Mappings Database assembles semantic mappings to the following |
| 3 | +resources: |
| 4 | +
|
| 5 | +======================================================= ================================================================================ |
| 6 | +Prefix Name |
| 7 | +======================================================= ================================================================================ |
| 8 | +`doid <https://bioregistry.io/doid>`_ Human Disease Ontology |
| 9 | +`mondo <https://bioregistry.io/mondo>`_ Mondo Disease Ontology |
| 10 | +`efo <https://bioregistry.io/efo>`_ Experimental Factor Ontology |
| 11 | +`mesh <https://bioregistry.io/mesh>`_ Medical Subject Headings |
| 12 | +`ncit <https://bioregistry.io/ncit>`_ NCI Thesaurus |
| 13 | +`orphanet <https://bioregistry.io/orphanet>`_ Orphanet |
| 14 | +`orphanet.ordo <https://bioregistry.io/orphanet.ordo>`_ Orphanet Rare Disease Ontology |
| 15 | +`umls <https://bioregistry.io/umls>`_ Unified Medical Language System Concept Unique Identifier |
| 16 | +`omim <https://bioregistry.io/omim>`_ Online Mendelian Inheritance in Man |
| 17 | +`omim.ps <https://bioregistry.io/omim.ps>`_ OMIM Phenotypic Series |
| 18 | +`gard <https://bioregistry.io/gard>`_ Genetic and Rare Diseases Information Center |
| 19 | +`icd10 <https://bioregistry.io/icd10>`_ International Classification of Diseases, 10th Revision |
| 20 | +`icd10cm <https://bioregistry.io/icd10cm>`_ International Classification of Diseases, 10th Revision, Clinical Modification |
| 21 | +`icd10pcs <https://bioregistry.io/icd10pcs>`_ International Classification of Diseases, 10th Revision, Procedure Coding System |
| 22 | +`icd11 <https://bioregistry.io/icd11>`_ International Classification of Diseases, 11th Revision (Foundation Component) |
| 23 | +`icd11.code <https://bioregistry.io/icd11.code>`_ ICD 11 Codes |
| 24 | +`icd9 <https://bioregistry.io/icd9>`_ International Classification of Diseases, 9th Revision |
| 25 | +`icd9cm <https://bioregistry.io/icd9cm>`_ International Classification of Diseases, 9th Revision, Clinical Modification |
| 26 | +`icdo <https://bioregistry.io/icdo>`_ International Classification of Diseases for Oncology |
| 27 | +======================================================= ================================================================================ |
| 28 | +
|
| 29 | +Reproduction |
| 30 | +************ |
| 31 | +
|
| 32 | +The SeMRA Disease Mappings Database can be rebuilt with the following commands: |
| 33 | +
|
| 34 | +.. code-block:: console |
| 35 | +
|
| 36 | + $ git clone https://github.com/biopragmatics/semra.git |
| 37 | + $ cd semra |
| 38 | + $ uv pip install .[landscape] |
| 39 | + $ python -m semra.landscape.disease |
| 40 | +
|
| 41 | +Web Application |
| 42 | +*************** |
| 43 | +The pre-built artifacts for this mapping database can be downloaded from Zenodo |
| 44 | +at |disease| and unzipped. The web application can be run |
| 45 | +locally on Docker from inside the folder where the data was unzipped with: |
| 46 | +
|
| 47 | +.. code-block:: console |
| 48 | +
|
| 49 | + $ sh run_on_docker.sh |
| 50 | +
|
| 51 | +If you reproduced the database yourself, you can ``cd`` |
| 52 | +to the right folder and run with: |
| 53 | +
|
| 54 | +.. code-block:: console |
| 55 | +
|
| 56 | + $ cd ~/.data/semra/case-studies/disease |
| 57 | + $ sh run_on_docker.sh |
| 58 | +
|
| 59 | +Finally, navigate in your web browser to http://localhost:8773 to see the web |
| 60 | +application. |
| 61 | +
|
| 62 | +.. |disease| image:: https://zenodo.org/badge/DOI/10.5281/zenodo.11091886.svg |
| 63 | + :target: https://doi.org/10.5281/zenodo.11091886 |
| 64 | +
|
| 65 | +""" # noqa:D205,D400 |
| 66 | + |
2 | 67 |
|
3 | 68 | import bioregistry |
4 | 69 | import pystow |
|
9 | 74 |
|
10 | 75 | __all__ = [ |
11 | 76 | "DISEASE_CONFIGURATION", |
12 | | - "MODULE", |
13 | 77 | ] |
14 | 78 |
|
15 | 79 | ICD_PREFIXES = bioregistry.get_collection("0000004").resources # type:ignore |
|
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