biothings / mydisease.info

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Add Disease Ontology as a new resource for MyDisease.info #15

Closed kevinxin90 closed 3 years ago

kevinxin90 commented 3 years ago

Download: https://github.com/DiseaseOntology/HumanDiseaseOntology/tree/master/src/ontology

Steps:

  1. _id

    MyDisease.info use MONDO as the default primary id (_id)

    • If DOID - MONDO mapping available, use MONDO as _id
      • use batch query feature in MyDisease.info to do the mapping
      • query for "mondo.xrefs.doid" for the DOID, and retrieve "_id" from mydisease.info
    • otherwise, use DOID instead
  2. Fields to extract

    • exact synonyms, type list
    • related synonyms, type list
    • is a, maybe a list (need to loop through the whole document to make sure), map to "parents" in mydisease.info
    • xrefs (type list)
    • for how to restructure xrefs, refer here
    • name (string)
    • definition (string)
    • doid (string)
  3. Output structure

{
  "_id": "MONDO:12344",
  "disease_ontology": {
     "doid": "DOID:0111648",
     "name": "ectopia lentis with ectopia of pupil",
     "definition": "An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has_material_basis_in homozygous or compound heterozygous mutation mutation in ADAMTSL4 on chromosome 1q21.2.",
    "synonyms": {
        "exact": ["..."],
        "related": ["..."]
    },
    "xrefs": {
        "mesh": "D...",
        "ncit": "...",
    },
    "parents": ["DOID:0050737", "DOID:5614"],
polyg314 commented 3 years ago

Pull request at https://github.com/biothings/mydisease.info/pull/20