{
  "id": 14401,
  "label": "mammary-digital-nail syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013368",
  "properties": {
    "xrefs": [
      "GARD:0017180",
      "MEDGEN:462296",
      "OMIM:613689",
      "Orphanet:238744",
      "SCTID:718679004",
      "UMLS:C3150946"
    ],
    "synonyms": [
      "MDN syndrome",
      "mammary-digital-nail syndrome",
      "onycho-digito-mammary syndrome",
      "MDNS"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      }
    ],
    "definition": "Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4379,
      "label": "female reproductive system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6772
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:229",
          "EFO:0009549",
          "ICD9:629.9",
          "MEDGEN:65928",
          "MESH:D005831",
          "NCIT:C27020",
          "SCTID:310789003",
          "UMLS:C0236100"
        ],
        "synonyms": [
          "disease of female reproductive system",
          "disease or disorder of female reproductive system",
          "disorder of female genital system",
          "disorder of female reproductive system",
          "female reproductive disease",
          "female reproductive system disease",
          "female reproductive system disease or disorder",
          "female reproductive system disorder",
          "disease of female genital system",
          "disorder of female genital tract",
          "gynaecological disease",
          "gynecological disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ],
        "definition": "A disease involving the female reproductive system."
      },
      "child_count": 34,
      "reference_id": "MONDO:0002263"
    },
    {
      "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"
    },
    {
      "id": 18362,
      "label": "dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1934",
          "ICD9:756.9",
          "MEDGEN:4430",
          "MESH:D004413",
          "NCIT:C34560",
          "Orphanet:364559",
          "SCTID:109420003",
          "UMLS:C0013393"
        ],
        "synonyms": [
          "dysostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones."
      },
      "child_count": 108,
      "reference_id": "MONDO:0018234"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:68378"
        ],
        "synonyms": [
          "congenital limb malformation"
        ]
      },
      "child_count": 107,
      "reference_id": "MONDO:0019054"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4379,
      "label": "female reproductive system disorder"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 18362,
      "label": "dysostosis"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation"
    }
  ]
}