{
  "id": 10159,
  "label": "cataract-hypertrichosis-intellectual disability syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008894",
  "properties": {
    "xrefs": [
      "GARD:0001052",
      "MEDGEN:167117",
      "MESH:C537959",
      "OMIM:211770",
      "Orphanet:1375",
      "SCTID:722379001",
      "UMLS:C0796282"
    ],
    "synonyms": [
      "CAHMR syndrome",
      "cataract, hypertrichosis, intellectual disability syndrome",
      "cataract, hypertrichosis, mental retardation syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait."
  },
  "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"
    }
  ]
}