{
  "id": 12233,
  "label": "congenital hypotrichosis with juvenile macular dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011107",
  "properties": {
    "xrefs": [
      "DOID:0110711",
      "GARD:0003066",
      "MEDGEN:316921",
      "MESH:C537698",
      "OMIM:601553",
      "Orphanet:1573",
      "UMLS:C1832162"
    ],
    "synonyms": [
      "HJMD",
      "Hjmd",
      "hypotrichosis with cone-rod dystrophy",
      "hypotrichosis with juvenile macular dystrophy",
      "hypotrichosis with juvenile macular degeneration",
      "hypotrichosis, congenital, with juvenile macular dystrophy",
      "juvenile macular degeneration and hypotrichosis",
      "juvenile macular dystrophy and congenital hypotrichosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 5030,
      "label": "hypotrichosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4924,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4535",
          "ICD9:704.09",
          "MEDGEN:6993",
          "MESH:D007039",
          "NCIT:C34720",
          "OMIMPS:605389",
          "SCTID:53602002",
          "UMLS:C0020678"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body."
      },
      "child_count": 38,
      "reference_id": "MONDO:0003037"
    },
    {
      "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": 5030,
      "label": "hypotrichosis"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    }
  ]
}