{
  "id": 16532,
  "label": "rhizomelic chondrodysplasia punctata",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015776",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 7019,
      "label": "eye disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4171,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1242",
          "DOID:5614",
          "EFO:0003966",
          "ICD9:360",
          "ICD9:360.29",
          "ICD9:360.89",
          "ICD9:360.9",
          "ICD9:379.8",
          "ICD9:379.90",
          "MEDGEN:5092",
          "MESH:D005128",
          "NCIT:C26767",
          "SCTID:371405004",
          "UMLS:C0015397"
        ],
        "synonyms": [
          "disease of eye",
          "disease of eyeball of camera-type eye",
          "disease or disorder of eyeball of camera-type eye",
          "disorder of eye",
          "disorder of eyeball of camera-type eye",
          "eye disease",
          "eye disorder",
          "eyeball of camera-type eye disease",
          "eyeball of camera-type eye disease or disorder",
          "globe disease",
          "disease of eyeball",
          "disorder of eye proper",
          "disorder of eyeball",
          "disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma."
      },
      "child_count": 240,
      "reference_id": "MONDO:0005328"
    },
    {
      "id": 18162,
      "label": "disorder of plasmalogens biosynthesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594,
        23995
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018790",
          "MEDGEN:1842510",
          "NANDO:1200770",
          "Orphanet:3276",
          "UMLS:C5681192"
        ],
        "synonyms": [
          "disorder of plasmalogens biosynthesis"
        ]
      },
      "child_count": 10,
      "reference_id": "MONDO:0017986"
    },
    {
      "id": 19476,
      "label": "chondrodysplasia punctata",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2581",
          "GARD:0008542",
          "ICD10CM:Q77.3",
          "ICD9:756.59",
          "MEDGEN:3052",
          "MESH:D002806",
          "NANDO:2201017",
          "NCIT:C84632",
          "Orphanet:93442",
          "SCTID:360507004",
          "UMLS:C0008445",
          "icd11.foundation:1923035846"
        ],
        "synonyms": [
          "CDP",
          "chondrodysplasia calcificans congenita",
          "chondrodysplasia punctata (stippled epiphyses) Group",
          "chondrodysplasia punctata congenita"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis."
      },
      "child_count": 8,
      "reference_id": "MONDO:0019701"
    }
  ],
  "children": [
    {
      "id": 10230,
      "label": "rhizomelic chondrodysplasia punctata type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16532,
        16607,
        24010
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110851",
          "GARD:0006049",
          "MEDGEN:347072",
          "NANDO:1200763",
          "OMIM:215100",
          "Orphanet:309789",
          "UMLS:C1859133",
          "icd11.foundation:44503513"
        ],
        "synonyms": [
          "PBD9",
          "PEX7 rhizomelic chondrodysplasia punctata",
          "Pbd9",
          "RCDP1",
          "Rcdp1",
          "peroxisome biogenesis disorder 9",
          "rhizomelic chondrodysplasia punctata caused by mutation in PEX7",
          "rhizomelic chondrodysplasia punctata type 1",
          "rhizomelic chondrodysplasia punctata, type 1",
          "chondrodysplasia punctata, rhizomelic form",
          "chondrodystrophia calcificans punctata"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008972"
    },
    {
      "id": 10359,
      "label": "rhizomelic chondrodysplasia punctata type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16532,
        24011
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009112"
    },
    {
      "id": 11959,
      "label": "rhizomelic chondrodysplasia punctata type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16532,
        24012
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010823"
    },
    {
      "id": 24003,
      "label": "peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16532,
        16607,
        24055
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026107"
        ],
        "synonyms": [
          "peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100265"
    }
  ],
  "roots": [
    {
      "id": 7019,
      "label": "eye disorder"
    },
    {
      "id": 18162,
      "label": "disorder of plasmalogens biosynthesis"
    },
    {
      "id": 19476,
      "label": "chondrodysplasia punctata"
    }
  ]
}