{
  "id": 10359,
  "label": "rhizomelic chondrodysplasia punctata type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009112",
  "properties": {
    "xrefs": [
      "DOID:0110852",
      "GARD:0009429",
      "MEDGEN:341734",
      "MESH:C537607",
      "NANDO:1200771",
      "OMIM:222765",
      "Orphanet:309796",
      "UMLS:C1857242",
      "icd11.foundation:179969811"
    ],
    "synonyms": [
      "Dhapat deficiency",
      "Dihydroxyacetonephosphate acyltransferase deficiency",
      "GNPAT rhizomelic chondrodysplasia punctata",
      "Glyceronephosphate O-acyltransferase deficiency",
      "Gnpat deficiency",
      "RCDP2",
      "Rcdp2",
      "chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency",
      "peroxisomal dihydroxyacetonephosphate acyltransferase deficiency",
      "rhizomelic chondrodysplasia punctata caused by mutation in GNPAT",
      "rhizomelic chondrodysplasia punctata type 2",
      "rhizomelic chondrodysplasia punctata, type 2",
      "type 2 rhizomelic chondrodysplasia punctata",
      "chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate"
    ],
    "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 GNPAT 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": 24011,
      "label": "glyceronephosphate O-acyltransferase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18162
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026115"
        ],
        "synonyms": [
          "GNPAT deficiency",
          "glyceronephosphate O-acyltransferase deficiency"
        ],
        "definition": "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0100273"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16532,
      "label": "rhizomelic chondrodysplasia punctata"
    },
    {
      "id": 24011,
      "label": "glyceronephosphate O-acyltransferase deficiency"
    }
  ]
}