{
  "id": 16593,
  "label": "isolated congenital breast hypoplasia/aplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015855",
  "properties": {
    "xrefs": [
      "GARD:0009489",
      "MEDGEN:98489",
      "OMIMPS:113700",
      "Orphanet:180188",
      "UMLS:C0432357"
    ],
    "synonyms": [
      "breasts and/or nipples, aplasia or hypoplasia of",
      "isolated congenital amastia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002657",
        "name": "breast disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 4708,
      "label": "breast disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3463",
          "EFO:0009483",
          "ICD10CM:N60-N65",
          "ICD9:610-612",
          "ICD9:611.8",
          "ICD9:611.9",
          "MEDGEN:652",
          "MESH:D001941",
          "NCIT:C26709",
          "SCTID:79604008",
          "UMLS:C0006145"
        ],
        "synonyms": [
          "breast disease",
          "breast disease or disorder",
          "breast diseases",
          "breast disorder",
          "disease of breast",
          "disease or disorder of breast",
          "disorder of breast"
        ],
        "categories": [
          {
            "ref": "MONDO:0002657",
            "name": "breast disorder"
          }
        ],
        "definition": "A disease involving the breast."
      },
      "child_count": 15,
      "reference_id": "MONDO:0002657"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    }
  ],
  "children": [
    {
      "id": 8643,
      "label": "amastia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16593
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024536",
          "MESH:C535565",
          "NCIT:C118459",
          "SCTID:75474006"
        ],
        "synonyms": [
          "amastia",
          "BNAH1",
          "absent breasts and nipples",
          "amazia",
          "athelia",
          "breasts and/or nipples, aplasia or hypoplasia of, 1",
          "complete absence of breasts"
        ],
        "categories": [
          {
            "ref": "MONDO:0002657",
            "name": "breast disorder"
          }
        ],
        "definition": "Absence of one or both mammary glands."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007238"
    },
    {
      "id": 15450,
      "label": "breasts and/or nipples, aplasia or hypoplasia of, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16593
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016044",
          "MEDGEN:863355",
          "OMIM:616001",
          "UMLS:C4014918"
        ],
        "synonyms": [
          "PTPRF isolated congenital breast hypoplasia/aplasia",
          "breasts and/or nipples, aplasia or hypoplasia of, 2",
          "breasts and/or nipples, aplasia or hypoplasia of, type 2",
          "isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF",
          "BNAH2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002657",
            "name": "breast disorder"
          }
        ],
        "definition": "Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014450"
    },
    {
      "id": 24216,
      "label": "breasts and/or nipples, aplasia or hypoplasia of, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16593
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015045",
          "OMIM:113700"
        ],
        "synonyms": [
          "BNAH1",
          "breasts and/or nipples, aplasia or hypoplasia of, 1",
          "amastia",
          "amazia",
          "athelia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002657",
            "name": "breast disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0100490"
    }
  ],
  "roots": [
    {
      "id": 4708,
      "label": "breast disorder"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}