Open gaurav opened 3 weeks ago
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
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
}
}
Three examples from #360 (originally reported at https://github.com/TranslatorSRI/Babel/issues/333):
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.