PMID_35991565_FamilyI3.json

{
  "id": "PMID_35991565_Family_I_\u21643",
  "subject": {
    "id": "Family I \u21643",
    "sex": "FEMALE"
  },
  "phenotypicFeatures": [
    {
      "type": {
        "id": "HP:0000876",
        "label": "Oligomenorrhea"
      },
      "onset": {
        "ontologyClass": {
          "id": "HP:0011462",
          "label": "Young adult onset"
        }
      }
    },
    {
      "type": {
        "id": "HP:0008222",
        "label": "Female infertility"
      },
      "onset": {
        "ontologyClass": {
          "id": "HP:0011462",
          "label": "Young adult onset"
        }
      }
    },
    {
      "type": {
        "id": "HP:0008232",
        "label": "Elevated circulating follicle stimulating hormone level"
      },
      "onset": {
        "ontologyClass": {
          "id": "HP:0011462",
          "label": "Young adult onset"
        }
      }
    },
    {
      "type": {
        "id": "HP:0031103",
        "label": "Decreased cirrculating antimullerian hormone circulation"
      },
      "onset": {
        "ontologyClass": {
          "id": "HP:0011462",
          "label": "Young adult onset"
        }
      }
    },
    {
      "type": {
        "id": "HP:0033085",
        "label": "Reduced antral follicle count"
      },
      "onset": {
        "ontologyClass": {
          "id": "HP:0011462",
          "label": "Young adult onset"
        }
      }
    }
  ],
  "interpretations": [
    {
      "id": "Family I \u21643",
      "progressStatus": "SOLVED",
      "diagnosis": {
        "disease": {
          "id": "OMIM:620686",
          "label": "Premature ovarian failure 23"
        },
        "genomicInterpretations": [
          {
            "subjectOrBiosampleId": "Family I \u21643",
            "interpretationStatus": "CAUSATIVE",
            "variantInterpretation": {
              "variationDescriptor": {
                "id": "var_jZEzGAHxrWlOqJxmtUOyVPvRP",
                "geneContext": {
                  "valueId": "HGNC:28569",
                  "symbol": "MEIOB"
                },
                "expressions": [
                  {
                    "syntax": "hgvs.c",
                    "value": "NM_001163560.3:c.1072_1073del"
                  },
                  {
                    "syntax": "hgvs.g",
                    "value": "NC_000016.10:g.1839400_1839401del"
                  }
                ],
                "vcfRecord": {
                  "genomeAssembly": "hg38",
                  "chrom": "chr16",
                  "pos": "1839399",
                  "ref": "CAT",
                  "alt": "C"
                },
                "moleculeContext": "genomic",
                "allelicState": {
                  "id": "GENO:0000136",
                  "label": "homozygous"
                }
              }
            }
          }
        ]
      }
    }
  ],
  "diseases": [
    {
      "term": {
        "id": "OMIM:620686",
        "label": "Premature ovarian failure 23"
      },
      "onset": {
        "ontologyClass": {
          "id": "HP:0011462",
          "label": "Young adult onset"
        }
      }
    }
  ],
  "metaData": {
    "created": "2024-05-04T08:49:07.282798051Z",
    "createdBy": "ORCID:0000-0002-0736-9199",
    "resources": [
      {
        "id": "geno",
        "name": "Genotype Ontology",
        "url": "http://purl.obolibrary.org/obo/geno.owl",
        "version": "2022-03-05",
        "namespacePrefix": "GENO",
        "iriPrefix": "http://purl.obolibrary.org/obo/GENO_"
      },
      {
        "id": "hgnc",
        "name": "HUGO Gene Nomenclature Committee",
        "url": "https://www.genenames.org",
        "version": "06/01/23",
        "namespacePrefix": "HGNC",
        "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/"
      },
      {
        "id": "omim",
        "name": "An Online Catalog of Human Genes and Genetic Disorders",
        "url": "https://www.omim.org",
        "version": "January 4, 2023",
        "namespacePrefix": "OMIM",
        "iriPrefix": "https://www.omim.org/entry/"
      },
      {
        "id": "so",
        "name": "Sequence types and features ontology",
        "url": "http://purl.obolibrary.org/obo/so.obo",
        "version": "2021-11-22",
        "namespacePrefix": "SO",
        "iriPrefix": "http://purl.obolibrary.org/obo/SO_"
      },
      {
        "id": "hp",
        "name": "human phenotype ontology",
        "url": "http://purl.obolibrary.org/obo/hp.owl",
        "version": "2024-04-26",
        "namespacePrefix": "HP",
        "iriPrefix": "http://purl.obolibrary.org/obo/HP_"
      }
    ],
    "phenopacketSchemaVersion": "2.0",
    "externalReferences": [
      {
        "id": "PMID:35991565",
        "reference": "https://pubmed.ncbi.nlm.nih.gov/35991565",
        "description": "Novel MEIOB variants cause primary ovarian insufficiency and non-obstructive azoospermia"
      }
    ]
  }
}