{
  "id": 11768,
  "label": "CHILD syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010621",
  "properties": {
    "xrefs": [
      "DOID:0111822",
      "GARD:0006039",
      "ICD9:759.89",
      "MEDGEN:82697",
      "MESH:C562515",
      "NANDO:1200629",
      "NANDO:2200998",
      "NANDO:2201358",
      "NORD:1284",
      "OMIM:308050",
      "Orphanet:139",
      "SCTID:17608003",
      "UMLS:C0265267"
    ],
    "synonyms": [
      "CHILD syndrome",
      "CHILD syndrome, X-linked dominant",
      "Ichthyosis, CHILD Syndrome",
      "child nevus",
      "child syndrome",
      "congenital hemidysplasia with ichthyosiform erythroderma and limb defects",
      "congenital hemidysplasia with ichthyosiform nevus and limb defects",
      "ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs",
      "ichthyosis, child syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ],
    "definition": "CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3036,
      "label": "bone benign neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3054,
        18958
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060094",
          "GARD:0022813",
          "ICD9:213.9",
          "MEDGEN:146337",
          "NCIT:C4880",
          "SCTID:92027006",
          "UMLS:C0684516"
        ],
        "synonyms": [
          "benign bone neoplasm",
          "benign bone tumor",
          "benign bone tumour",
          "benign neoplasm of bone",
          "benign neoplasm of the bone",
          "benign osseous neoplasm",
          "benign osseous tumor",
          "benign osseous tumour",
          "benign tumor of bone",
          "benign tumor of the bone",
          "benign tumour of bone",
          "benign tumour of the bone",
          "bone tissue benign neoplasm"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites."
      },
      "child_count": 38,
      "reference_id": "MONDO:0000631"
    },
    {
      "id": 6801,
      "label": "melanocytic nevus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20564,
        20680
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0009675",
          "MEDGEN:14364",
          "MESH:D009506",
          "NCIT:C7570",
          "SCTID:400096001",
          "UMLS:C0027962",
          "Wikipedia:Nevus"
        ],
        "synonyms": [
          "melanocytic Nevus",
          "melanotic Nevus",
          "mole",
          "mole of skin",
          "nevus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A neoplasm composed of melanocytes that usually appears as a dark spot on the skin."
      },
      "child_count": 56,
      "reference_id": "MONDO:0005073"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020232",
          "MEDGEN:1826171",
          "Orphanet:181437",
          "SCTID:109041000119107",
          "UMLS:C5680608"
        ],
        "synonyms": [
          "complex dyslipidaemia",
          "complex dyslipidemia",
          "syndrome associated with inherited lipid metabolism disorder",
          "syndromic inherited lipid metabolism disorder",
          "rare syndromic dyslipidaemia",
          "rare syndromic dyslipidemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A inherited lipid metabolism disorder that is part of a larger syndrome."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015905"
    },
    {
      "id": 17598,
      "label": "X-linked ichthyosis syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4198,
        4370
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021109",
          "MedDRA:10048063",
          "Orphanet:281210"
        ],
        "synonyms": [
          "X-linked inherited ichthyosis syndromic form",
          "inherited ichthyosis syndromic form, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "X-linked form of inherited ichthyosis syndromic form."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017269"
    },
    {
      "id": 19104,
      "label": "sterol biosynthesis disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16198,
        19117
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018969",
          "MEDGEN:1843040",
          "Orphanet:79195",
          "UMLS:C5681287"
        ],
        "synonyms": [
          "inborn error of sterol biosynthetic process",
          "inborn sterol biosynthetic process disorder",
          "rare inborn error of sterol biosynthetic process"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process."
      },
      "child_count": 14,
      "reference_id": "MONDO:0019240"
    },
    {
      "id": 19476,
      "label": "chondrodysplasia punctata",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2581",
          "GARD:0008542",
          "ICD10CM:Q77.3",
          "ICD9:756.59",
          "MEDGEN:3052",
          "MESH:D002806",
          "NANDO:2201017",
          "NCIT:C84632",
          "Orphanet:93442",
          "SCTID:360507004",
          "UMLS:C0008445",
          "icd11.foundation:1923035846"
        ],
        "synonyms": [
          "CDP",
          "chondrodysplasia calcificans congenita",
          "chondrodysplasia punctata (stippled epiphyses) Group",
          "chondrodysplasia punctata congenita"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis."
      },
      "child_count": 8,
      "reference_id": "MONDO:0019701"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:473110",
          "NCIT:C97075",
          "SCTID:363045008",
          "UMLS:C0410787"
        ],
        "synonyms": [
          "Mendelian connective tissue disorder",
          "connective tissue hereditary disorder",
          "hereditary connective tissue disorder",
          "Hereditary Connective Tissue Disorder",
          "Inherited disorder of connective tissue",
          "inherited disorder of connective tissue"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome."
      },
      "child_count": 176,
      "reference_id": "MONDO:0023603"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3036,
      "label": "bone benign neoplasm"
    },
    {
      "id": 6801,
      "label": "melanocytic nevus"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia"
    },
    {
      "id": 17598,
      "label": "X-linked ichthyosis syndrome"
    },
    {
      "id": 19104,
      "label": "sterol biosynthesis disorder"
    },
    {
      "id": 19476,
      "label": "chondrodysplasia punctata"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}