{
  "id": 11959,
  "label": "rhizomelic chondrodysplasia punctata type 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010823",
  "properties": {
    "xrefs": [
      "DOID:0110853",
      "GARD:0009682",
      "MEDGEN:374012",
      "MESH:C537608",
      "NANDO:1200772",
      "OMIM:600121",
      "Orphanet:309803",
      "UMLS:C1838612",
      "icd11.foundation:110878063"
    ],
    "synonyms": [
      "AGPS deficiency",
      "alkyldihydroxyacetonephosphate synthase deficiency",
      "alkylglycerone-phosphate synthase deficiency",
      "AGPS rhizomelic chondrodysplasia punctata",
      "RCDP3",
      "rhizomelic chondrodysplasia punctata caused by mutation in AGPS",
      "rhizomelic chondrodysplasia punctata type 3",
      "rhizomelic chondrodysplasia punctata, type 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16532,
      "label": "rhizomelic chondrodysplasia punctata",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019,
        18162,
        19476
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2580",
          "GARD:0013160",
          "ICD10CM:E71.540",
          "MEDGEN:79471",
          "MESH:D018902",
          "NCIT:C85047",
          "OMIMPS:215100",
          "Orphanet:177",
          "SCTID:56692003",
          "UMLS:C0282529",
          "icd11.foundation:260357080"
        ],
        "synonyms": [
          "RCDP",
          "rhizomelic chondrodysplasia punctata",
          "rhizomelic chondrodysplasia punctata syndrome",
          "rhizomelic dwarfism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth."
      },
      "child_count": 12,
      "reference_id": "MONDO:0015776"
    },
    {
      "id": 24012,
      "label": "alkylglycerone-phosphate synthase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18162
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026116"
        ],
        "synonyms": [
          "AGPS deficiency",
          "alkylglycerone-phosphate synthase deficiency"
        ],
        "definition": "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGPS gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0100274"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16532,
      "label": "rhizomelic chondrodysplasia punctata"
    },
    {
      "id": 24012,
      "label": "alkylglycerone-phosphate synthase deficiency"
    }
  ]
}