{
  "id": 8536,
  "label": "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007124",
  "properties": {
    "xrefs": [
      "DOID:0090119",
      "GARD:0006571",
      "MEDGEN:98032",
      "MESH:C535847",
      "NORD:738",
      "OMIM:106260",
      "Orphanet:1071",
      "SCTID:55821006",
      "UMLS:C0406709"
    ],
    "synonyms": [
      "AEC Syndrome",
      "AEC syndrome",
      "Hay-Wells syndrome",
      "Ankyloblepharon ectodermal defects cleft lip/palate",
      "Rapp-Hodgkins syndrome",
      "Seres-Santamaria Arimany Muniz syndrome",
      "ankyloblepharon-ectodermal defects-cleft LIP/palate",
      "cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects"
    ],
    "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 with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 18362,
      "label": "dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1934",
          "ICD9:756.9",
          "MEDGEN:4430",
          "MESH:D004413",
          "NCIT:C34560",
          "Orphanet:364559",
          "SCTID:109420003",
          "UMLS:C0013393"
        ],
        "synonyms": [
          "dysostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones."
      },
      "child_count": 108,
      "reference_id": "MONDO:0018234"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:68378"
        ],
        "synonyms": [
          "congenital limb malformation"
        ]
      },
      "child_count": 107,
      "reference_id": "MONDO:0019054"
    },
    {
      "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": 29233,
      "label": "TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028141"
        ],
        "definition": "Any developmental defect during embryogenesis in which the cause of the disease is a mutation in the TP63 gene. This disease is characterized by variable ectodermal dysplasia, limb defects, and orofacial clefting."
      },
      "child_count": 10,
      "reference_id": "MONDO:1040001"
    }
  ],
  "children": [
    {
      "id": 10392,
      "label": "Rosselli-Gulienetti syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8536
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024650",
          "MEDGEN:163221",
          "MESH:C563117",
          "OMIM:225000",
          "Orphanet:90339",
          "UMLS:C0796139",
          "icd11.foundation:1430451924"
        ],
        "synonyms": [
          "Rosselli-Gulienetti syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene"
      },
      "child_count": 0,
      "reference_id": "MONDO:0009148"
    }
  ],
  "roots": [
    {
      "id": 18362,
      "label": "dysostosis"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    },
    {
      "id": 29233,
      "label": "TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations"
    }
  ]
}