{
  "id": 10395,
  "label": "cleft lip/palate-ectodermal dysplasia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009151",
  "properties": {
    "xrefs": [
      "DOID:0060773",
      "GARD:0000375",
      "MEDGEN:444067",
      "NCIT:C122656",
      "OMIM:225060",
      "Orphanet:320317",
      "Orphanet:3253",
      "SCTID:716248001",
      "UMLS:C2931488"
    ],
    "synonyms": [
      "Zlotogora-Ogur syndrome",
      "cleft lip/palate-ectodermal dysplasia syndrome",
      "cleft lip/palate-syndactyly-pili torti syndrome",
      "syndactyly-ectodermal dysplasia-cleft/lip palate",
      "Bustos Simosa pinto Cisternas syndrome",
      "CLEPD",
      "CLPED1",
      "ED4",
      "Zlotogora syndrome",
      "autosomal recessive ectodermal dysplasia",
      "cleft lip with or without cleft palate, nonsyndromic, 7",
      "cleft lip-palate-ectodermal dysplasia syndrome",
      "cleft lip/palate-syndactyly-pili torti",
      "ectodermal dysplasia margarita island type",
      "ectodermal dysplasia type 4",
      "ectodermal dysplasia, cleft lip and palate, intellectual disability, and syndactyly",
      "ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly",
      "ectodermal dysplasia, margarita Island type",
      "ectodermal dysplasia, type 4",
      "orofacial cleft 7"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2863,
      "label": "orofacial cleft",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        21213
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050567",
          "MEDGEN:472000",
          "OMIMPS:119530",
          "SCTID:449790007",
          "UMLS:C3266076"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disorder of facial skeleton that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development."
      },
      "child_count": 32,
      "reference_id": "MONDO:0000358"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": 2863,
      "label": "orofacial cleft"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    }
  ]
}