OMIM:MTHU004643 does not normalize

MarkDWilliams commented 3 years ago

OMIM:MTHU004643 (joint hypermobility) does not normalize, but I believe it should be connected to this cluster

{
  "HP:0001382": {
    "id": {
      "identifier": "HP:0001382",
      "label": "Joint hypermobility"
    },
    "equivalent_identifiers": [
      {
        "identifier": "HP:0001382",
        "label": "Joint hypermobility"
      },
      {
        "identifier": "UMLS:C1844820"
      },
      {
        "identifier": "SNOMEDCT:298181000"
      }
    ],
    "type": [
      "biolink:PhenotypicFeature",
      "biolink:DiseaseOrPhenotypicFeature",
      "biolink:BiologicalEntity",
      "biolink:NamedThing",
      "biolink:Entity"
    ]
  }
}

cbizon commented 3 years ago

Looks like the main problem here is that OMIM is not a valid prefix for phenotypic features in biolink model. We'll start there.

cbizon commented 3 years ago

https://github.com/biolink/biolink-model/pull/658

cbizon commented 3 years ago

Hi @MarkDWilliams - where did you find this curie? I'm not sure it's a valid OMIM identifier?

TranslatorSRI / NodeNormalization

OMIM:MTHU004643 does not normalize #52