{
  "id": 11857,
  "label": "X-linked lethal multiple pterygium syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010716",
  "properties": {
    "xrefs": [
      "GARD:0004573",
      "MEDGEN:374225",
      "MESH:C564072",
      "OMIM:312150",
      "Orphanet:79447",
      "SCTID:763462004",
      "UMLS:C1839440"
    ],
    "synonyms": [
      "lethal multiple pterygium syndrome, X-linked",
      "multiple pterygium syndrome X-linked",
      "multiple pterygium syndrome, X-linked",
      "pterygium syndrome multiple X-linked",
      "pterygium syndrome, multiple, X-linked"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "X-linked form of lethal multiple pterygium syndrome."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    },
    {
      "id": 10882,
      "label": "lethal multiple pterygium syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16087,
        17720
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003834",
          "ICD9:759.89",
          "MEDGEN:381473",
          "NCIT:C101038",
          "OMIM:253290",
          "Orphanet:33108",
          "SCTID:60192008",
          "UMLS:C1854678"
        ],
        "synonyms": [
          "LMPS",
          "autosomal recessive lethal multiple pterygium syndrome",
          "lethal multiple pterygium syndrome",
          "multiple pterygium syndrome lethal type",
          "multiple pterygium syndrome, lethal type",
          "pterygium syndrome multiple lethal type",
          "pterygium syndrome, multiple, lethal type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition."
      },
      "child_count": 3,
      "reference_id": "MONDO:0009668"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 10882,
      "label": "lethal multiple pterygium syndrome"
    }
  ]
}