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Some MONDO cliques are unexpectedly not cliqued with other identifiers #369

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gaurav opened this issue Nov 4, 2024 · 2 comments
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@gaurav
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gaurav commented Nov 4, 2024

Three examples from #360 (originally reported at #333):

  • MONDO:0007540 not cliqued with DOID:10017
  • MONDO:0017169 not cliqued with DOID:3125
  • MONDO:0015517 not cliqued with DOID:12177

All three of these xrefs are present in both the MONDO ontology and in our concords, so it's not clear why it didn't make it into the clique. For these three examples, I created a manual concord which appears to be working correctly.

@gaurav gaurav added this to the Babel November 2024 milestone Nov 4, 2024
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gaurav commented Nov 4, 2024

Example from 2024aug18:

$ pwd
/projects/babel/babel-outputs/2024aug18/compendia
$ grep MONDO:0015517 Disease.txt 
{"type": "biolink:Disease", "ic": "80.9446391445248", "identifiers": [{"i": "MONDO:0015517", "l": "common variable immunodeficiency", "d": ["Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria."], "t": []}], "preferred_name": "common variable immunodeficiency", "taxa": []}
$ grep DOID:12177 Disease.txt 
{"type": "biolink:Disease", "ic": null, "identifiers": [{"i": "DOID:12177", "l": "common variable immunodeficiency", "d": [], "t": []}, {"i": "OMIM:607594", "d": [], "t": []}, {"i": "UMLS:C0009447", "l": "Common Variable Immunodeficiency", "d": [], "t": []}, {"i": "UMLS:C3149378", "l": "IMMUNODEFICIENCY, COMMON VARIABLE, 1", "d": [], "t": []}, {"i": "MESH:D017074", "l": "Common Variable Immunodeficiency", "d": [], "t": []}, {"i": "MEDDRA:10010112", "d": [], "t": []}, {"i": "MEDDRA:10021449", "d": [], "t": []}, {"i": "MEDDRA:10036670", "d": [], "t": []}, {"i": "MEDDRA:10036671", "d": [], "t": []}, {"i": "SNOMEDCT:191010004", "d": [], "t": []}, {"i": "ICD10:D83", "d": [], "t": []}, {"i": "ICD9:279.06", "d": [], "t": []}], "preferred_name": "common variable immunodeficiency", "taxa": []}
$ cd ../intermediate/disease/concords/
$ pwd
/projects/babel/babel-outputs/2024aug18/intermediate/disease/concords
$ grep DOID:12177 *
DOID:DOID:12177	xref	GARD:6140
DOID:DOID:12177	xref	ICD10:D83
DOID:DOID:12177	xref	ICD9:279.06
DOID:DOID:12177	xref	MESH:D017074
DOID:DOID:12177	xref	MIM:PS607594
DOID:DOID:12177	xref	ORDO:1572
DOID:DOID:12177	xref	SNOMEDCT_US_2023_03_01:191010004
DOID:DOID:12177	xref	UMLS:C0009447
MONDO:MONDO:0015517	oio:exactMatch	DOID:12177
MONDO:MONDO:0015517	oio:exactMatch	DOID:12177
$ grep MONDO:0015517 *
MONDO:MONDO:0015517	oio:exactMatch	OMIM.PS:607594
MONDO:MONDO:0015517	oio:exactMatch	NCIT:C26725
MONDO:MONDO:0015517	oio:exactMatch	MESH:D017074
MONDO:MONDO:0015517	oio:exactMatch	SNOMEDCT:23238000
MONDO:MONDO:0015517	oio:exactMatch	DOID:12177
MONDO:MONDO:0015517	oio:exactMatch	MEDGEN:40407
MONDO:MONDO:0015517	oio:exactMatch	UMLS:C0009447
MONDO:MONDO:0015517	oio:exactMatch	orphanet:1572
MONDO:MONDO:0015517	oio:exactMatch	OMIM.PS:607594
MONDO:MONDO:0015517	oio:exactMatch	NCIT:C26725
MONDO:MONDO:0015517	oio:exactMatch	MESH:D017074
MONDO:MONDO:0015517	oio:exactMatch	SNOMEDCT:23238000
MONDO:MONDO:0015517	oio:exactMatch	DOID:12177
MONDO:MONDO:0015517	oio:exactMatch	MEDGEN:40407
MONDO:MONDO:0015517	oio:exactMatch	UMLS:C0009447
MONDO:MONDO:0015517	oio:exactMatch	orphanet:1572
MONDO_close:MONDO:0015517	oio:closeMatch	MEDDRA:10021449
MONDO_close:MONDO:0015517	oio:closeMatch	MEDDRA:10021449

@gaurav gaurav changed the title Some MONDO cliques are unexpected not cliqued with other identifiers Some MONDO cliques are unexpectedly not cliqued with other identifiers Nov 5, 2024
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gaurav commented Nov 5, 2024

For 2024oct1, I'm not seeing any MONDOs in the existing clique:

{
  "DOID:10017": {
    "id": {
      "identifier": "DOID:10017",
      "label": "multiple endocrine neoplasia type 1"
    },
    "equivalent_identifiers": [
      {
        "identifier": "DOID:10017",
        "label": "multiple endocrine neoplasia type 1"
      },
      {
        "identifier": "OMIM:131100"
      },
      {
        "identifier": "UMLS:C0025267",
        "label": "Multiple Endocrine Neoplasia Type 1"
      },
      {
        "identifier": "UMLS:C3149237",
        "label": "MEN1 SOMATIC MUTATIONS"
      },
      {
        "identifier": "MESH:D018761",
        "label": "Multiple Endocrine Neoplasia Type 1"
      },
      {
        "identifier": "MEDDRA:10026979"
      },
      {
        "identifier": "MEDDRA:10027180"
      },
      {
        "identifier": "MEDDRA:10028190"
      },
      {
        "identifier": "MEDDRA:10028194"
      },
      {
        "identifier": "MEDDRA:10073150"
      },
      {
        "identifier": "NCIT:C3225",
        "label": "Multiple Endocrine Neoplasia Type 1"
      },
      {
        "identifier": "SNOMEDCT:30664006"
      },
      {
        "identifier": "ICD10:E31.21"
      },
      {
        "identifier": "ICD9:258.01"
      }
    ],
    "type": [
      "biolink:Disease",
      "biolink:DiseaseOrPhenotypicFeature",
      "biolink:BiologicalEntity",
      "biolink:ThingWithTaxon",
      "biolink:NamedThing"
    ],
    "information_content": 88.2
  },
  "MONDO:0007540": {
    "id": {
      "identifier": "MONDO:0007540",
      "label": "multiple endocrine neoplasia type 1"
    },
    "equivalent_identifiers": [
      {
        "identifier": "MONDO:0007540",
        "label": "multiple endocrine neoplasia type 1"
      }
    ],
    "type": [
      "biolink:Disease",
      "biolink:DiseaseOrPhenotypicFeature",
      "biolink:BiologicalEntity",
      "biolink:ThingWithTaxon",
      "biolink:NamedThing"
    ],
    "information_content": 100
  }
}

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