{
  "id": 16594,
  "label": "syndromic breast hypoplasia/aplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015856",
  "properties": {
    "xrefs": [
      "GARD:0020196",
      "MEDGEN:1842220",
      "Orphanet:180193",
      "UMLS:C5680482"
    ],
    "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"
    }
  ],
  "children": [
    {
      "id": 9569,
      "label": "Poland syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16594,
        18956,
        19479,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12961",
          "GARD:0007412",
          "ICD9:756.89",
          "MEDGEN:10822",
          "MESH:D011045",
          "MedDRA:10036007",
          "NCIT:C85017",
          "NORD:1587",
          "OMIM:173800",
          "Orphanet:2911",
          "SCTID:38371006",
          "UMLS:C0032357",
          "icd11.foundation:1364451323"
        ],
        "synonyms": [
          "Poland anomaly",
          "Poland sequence",
          "Poland syndrome",
          "Poland syndactyly",
          "Poland's syndrome",
          "pectoralis muscle, absence of",
          "unilateral defect of pectoralis muscle and syndactyly of the hand"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0002657",
            "name": "breast disorder"
          }
        ],
        "definition": "Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008262"
    },
    {
      "id": 16305,
      "label": "craniofrontonasal dysplasia-Poland anomaly syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16594,
        17114
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000428",
          "MEDGEN:929528",
          "Orphanet:1521",
          "SCTID:720757001",
          "UMLS:C4303859"
        ],
        "synonyms": [
          "Webster-Deming syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002657",
            "name": "breast disorder"
          }
        ],
        "definition": "Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015464"
    },
    {
      "id": 19572,
      "label": "acropectororenal dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000511",
          "Orphanet:956",
          "SCTID:720413004"
        ],
        "synonyms": [
          "acro-pectoro-renal field defect",
          "brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys"
        ],
        "categories": [
          {
            "ref": "MONDO:0002657",
            "name": "breast disorder"
          }
        ],
        "definition": "Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019840"
    }
  ],
  "roots": [
    {
      "id": 4708,
      "label": "breast disorder"
    }
  ]
}