{
  "id": 10882,
  "label": "lethal multiple pterygium syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009668",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 17720,
      "label": "multiple pterygium syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16118
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080110",
          "GARD:0021177",
          "ICD9:755.8",
          "MEDGEN:1852087",
          "MESH:C537377",
          "NORD:1632",
          "Orphanet:294060",
          "SCTID:205819008",
          "UMLS:C5848053",
          "icd11.foundation:834369371"
        ],
        "synonyms": [
          "Pterygium Syndrome, Multiple",
          "pterygium syndrome"
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0017415"
    }
  ],
  "children": [
    {
      "id": 11857,
      "label": "X-linked lethal multiple pterygium syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2902,
        10882
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010716"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 17720,
      "label": "multiple pterygium syndrome"
    }
  ]
}