Use curated MONDO mappings where possible

[cmungall]

MONDO has rich mappings using SSSOM

dyskeratosis congenita, autosomal dominant 6
http://purl.obolibrary.org/obo/MONDO_0014690

Here we see mappings to DOID:0070023, OMIM:616553, and others

unfortunately this doesn't make it's way into NN

the DOID is a singleton

✗ curl -L -s "https://nodenormalization-sri.renci.org:443/1.4/get_normalized_nodes?curie=DOID%3A0070023&conflate=true" | jq .

{
  "DOID:0070023": {
    "id": {
      "identifier": "DOID:0070023",
      "label": "autosomal dominant dyskeratosis congenita 6"
    },
    "equivalent_identifiers": [
      {
        "identifier": "DOID:0070023",
        "label": "autosomal dominant dyskeratosis congenita 6"
      }
    ],
    "type": [
      "biolink:Disease",
      "biolink:DiseaseOrPhenotypicFeature",
      "biolink:BiologicalEntity",
      "biolink:ThingWithTaxon",
      "biolink:NamedThing"
    ]
  }
}

the Mondo is a singleton:

✗ curl -L -s "https://nodenormalization-sri.renci.org:443/1.4/get_normalized_nodes?curie=MONDO%3A0014690&conflate=false" | jq .
{
  "MONDO:0014690": {
    "id": {
      "identifier": "MONDO:0014690",
      "label": "dyskeratosis congenita, autosomal dominant 6"
    },
    "equivalent_identifiers": [
      {
        "identifier": "MONDO:0014690",
        "label": "dyskeratosis congenita, autosomal dominant 6"
      }
    ],
    "type": [
      "biolink:Disease",
      "biolink:DiseaseOrPhenotypicFeature",
      "biolink:BiologicalEntity",
      "biolink:ThingWithTaxon",
      "biolink:NamedThing"
    ],
    "information_content": 100
  }
}

the OMIM has one NCIT, and 2 UMLSs, one of which is wrong!!!

✗ curl -L -s "https://nodenormalization-sri.renci.org:443/1.4/get_normalized_nodes?curie=OMIM:616553&conflate=false" | jq .
{
  "OMIM:616553": {
    "id": {
      "identifier": "OMIM:616553",
      "label": "DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7"
    },
    "equivalent_identifiers": [
      {
        "identifier": "OMIM:616553"
      },
      {
        "identifier": "UMLS:C4225283",
        "label": "DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7"
      },
      {
        "identifier": "UMLS:C4225284",
        "label": "DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6"
      },
      {
        "identifier": "NCIT:C176924",
        "label": "Dyskeratosis Congenita, Autosomal Dominant 6"
      }
    ],
    "type": [
      "biolink:Disease",
      "biolink:DiseaseOrPhenotypicFeature",
      "biolink:BiologicalEntity",
      "biolink:ThingWithTaxon",
      "biolink:NamedThing"
    ],
    "information_content": 100
  }
}

mapping is hard but for disease it's all done to high quality!

[cmungall]

May be related:

TranslatorSRI/Babel#369

apologies if I got the wrong tracker!