{
  "id": 2768,
  "label": "prenatal-onset spinal muscular atrophy with congenital bone fractures",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000209",
  "properties": {
    "xrefs": [
      "GARD:0017882",
      "MEDGEN:1798941",
      "OMIMPS:616866",
      "Orphanet:486811",
      "UMLS:C5567518"
    ],
    "synonyms": [
      "SMABF",
      "spinal muscular atrophy with congenital bone fractures"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 16094,
      "label": "arthrogryposis multiplex congenita",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16118
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080954",
          "GARD:0000777",
          "ICD10CM:Q74.3",
          "MEDGEN:1830310",
          "MedDRA:10051643",
          "NORD:810",
          "OMIMPS:617468",
          "Orphanet:1037",
          "UMLS:C5779613",
          "icd11.foundation:1930990330"
        ],
        "synonyms": [
          "AMC",
          "Arthromyodysplasia congenita",
          "arthrogryposis multiplex congenita",
          "congenital arthromyodysplasia",
          "multiple congenital arthrogryposis",
          "myodysplasia",
          "Guerin-Stern syndrome",
          "Guérin-Stern syndrome",
          "Otto syndrome",
          "Rossi syndrome",
          "amyoplasia congenita",
          "congenital amyoplasia",
          "fibrous ankylosis of multiple joints",
          "myodystrophia fetalis deformans",
          "rocher-Sheldon syndrome"
        ],
        "definition": "Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures."
      },
      "child_count": 48,
      "reference_id": "MONDO:0015168"
    },
    {
      "id": 21302,
      "label": "hereditary motor neuron disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19749,
        21292,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019478",
          "MEDGEN:78728",
          "Orphanet:98505",
          "SCTID:49793008",
          "UMLS:C0270763"
        ],
        "synonyms": [
          "genetic anterior horn cell disease",
          "genetic motor neuron disease",
          "hereditary motor neuron disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of motor neuron disease that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 27,
      "reference_id": "MONDO:0024257"
    }
  ],
  "children": [
    {
      "id": 15794,
      "label": "spinal muscular atrophy with congenital bone fractures 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2768
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004947",
          "MEDGEN:896011",
          "MESH:C564805",
          "OMIM:271225",
          "OMIM:616866",
          "UMLS:C4225177"
        ],
        "synonyms": [
          "SMABF1",
          "TRIP4 prenatal-onset spinal muscular atrophy with congenital bone fractures",
          "prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in TRIP4",
          "spinal muscular atrophy with congenital bone fractures 1",
          "spinal muscular atrophy with congenital bone fractures type 1",
          "spinal muscular atrophy, type I, with congenital bone fractures",
          "SMA1 with congenital bone fractures",
          "spinal muscular atrophy type 1 with congenital bone fractures"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014806"
    },
    {
      "id": 15795,
      "label": "spinal muscular atrophy with congenital bone fractures 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2768
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018495",
          "MEDGEN:907910",
          "OMIM:616867",
          "UMLS:C4225176"
        ],
        "synonyms": [
          "ASCC1 prenatal-onset spinal muscular atrophy with congenital bone fractures",
          "SMABF2",
          "prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in ASCC1",
          "spinal muscular atrophy with congenital bone fractures 2",
          "spinal muscular atrophy with congenital bone fractures type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014807"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16094,
      "label": "arthrogryposis multiplex congenita"
    },
    {
      "id": 21302,
      "label": "hereditary motor neuron disease"
    }
  ]
}