{
  "id": 8891,
  "label": "Rapp-Hodgkin syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007508",
  "properties": {
    "xrefs": [
      "DOID:0060330",
      "GARD:0005690",
      "MEDGEN:315656",
      "MESH:C535289",
      "OMIM:129400",
      "Orphanet:3022",
      "SCTID:7731005",
      "UMLS:C1785148",
      "icd11.foundation:1455333054"
    ],
    "synonyms": [
      "Rapp-Hodgkin syndrome",
      "OFC8, included",
      "RHS",
      "Rapp-Hodgkin ectodermal dysplasia syndrome",
      "cleft lip with or without cleft palate, nonsyndromic, 8",
      "ectodermal dysplasia, anhidrotic, with cleft Lip/palate",
      "ectodermal dysplasia, anhidrotic, with cleft lip-palate",
      "orofacial cleft 8"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 6518,
      "label": "cleft lip",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2863
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9296",
          "HP:0410030",
          "ICD10CM:Q36",
          "ICD10WHO:Q36",
          "ICD9:749.1",
          "ICD9:749.10",
          "ICD9:749.11",
          "MEDGEN:1370297",
          "MESH:D002971",
          "NCIT:C87175",
          "SCTID:80281008",
          "UMLS:C4321245"
        ],
        "synonyms": [
          "cheiloschisis",
          "cleft lip",
          "cleft lip (disease)",
          "cleft lip, unilateral, complete",
          "labium leporinum"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse."
      },
      "child_count": 3,
      "reference_id": "MONDO:0004747"
    },
    {
      "id": 16697,
      "label": "cleft palate",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2863,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:674",
          "ICD10CM:Q35",
          "ICD10WHO:Q35",
          "ICD9:749.0",
          "ICD9:749.00",
          "MEDGEN:756015",
          "MESH:D002972",
          "MedDRA:10009269",
          "NCIT:C87069",
          "Orphanet:2014",
          "SCTID:63567004",
          "UMLS:C2981150",
          "icd11.foundation:2129534948"
        ],
        "synonyms": [
          "palatoschisis",
          "uranostaphyloschisis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees."
      },
      "child_count": 18,
      "reference_id": "MONDO:0016064"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 6518,
      "label": "cleft lip"
    },
    {
      "id": 16697,
      "label": "cleft palate"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    },
    {
      "id": 29233,
      "label": "TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations"
    }
  ]
}