{
  "id": 9048,
  "label": "hypertrichosis cubiti-short stature syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007693",
  "properties": {
    "xrefs": [
      "GARD:0000143",
      "MEDGEN:870835",
      "MESH:C535618",
      "MedDRA:10068636",
      "OMIM:139600",
      "Orphanet:2220",
      "UMLS:C4025295"
    ],
    "synonyms": [
      "MacDermot-Patton-Williams syndrome",
      "hairy elbows",
      "hairy elbows syndrome",
      "hypertrichosis cubiti"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19135,
      "label": "hypertrichosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4924
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:420",
          "HP:0000998",
          "ICD10WHO:L68",
          "MEDGEN:43787",
          "MESH:D006983",
          "MedDRA:10020864",
          "Orphanet:79365",
          "SCTID:29966009",
          "UMLS:C0020555",
          "icd11.foundation:2042627850"
        ],
        "synonyms": [
          "hypertrichosis",
          "hypertrichosis (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Excessive hair growth anywhere on the body."
      },
      "child_count": 11,
      "reference_id": "MONDO:0019280"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19135,
      "label": "hypertrichosis"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    }
  ]
}