{
  "id": 23353,
  "label": "arthrogryposis-ectodermal dysplasia-other anomalies syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0044406",
  "properties": {
    "xrefs": [
      "GARD:0005029",
      "MEDGEN:1674099",
      "Orphanet:3200",
      "UMLS:C5191837"
    ],
    "synonyms": [
      "Stoll-Alembik-Finck syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        20277,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2121",
          "GARD:0006317",
          "ICD9:757.31",
          "MEDGEN:8544",
          "MESH:D004476",
          "MedDRA:10010452",
          "NCIT:C84683",
          "OMIMPS:305100",
          "Orphanet:79373",
          "SCTID:8654005",
          "UMLS:C0013575",
          "icd11.foundation:1156567558"
        ],
        "synonyms": [
          "ectodermal dysplasia",
          "ectodermal dysplasia (select examples)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures."
      },
      "child_count": 360,
      "reference_id": "MONDO:0019287"
    },
    {
      "id": 19660,
      "label": "distal arthrogryposis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5798,
        16118
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050646",
          "GARD:0000786",
          "MEDGEN:120512",
          "OMIMPS:108120",
          "Orphanet:97120",
          "SCTID:24269006",
          "UMLS:C0265213",
          "icd11.foundation:1265239690"
        ],
        "synonyms": [
          "arthrogryposis multiplex congenita distal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A muscle tissue disease characterized by congenital joint contractures of hand and feet."
      },
      "child_count": 69,
      "reference_id": "MONDO:0019942"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    },
    {
      "id": 19660,
      "label": "distal arthrogryposis"
    }
  ]
}