{
  "id": 16531,
  "label": "non-rhizomelic chondrodysplasia punctata",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015775",
  "properties": {
    "xrefs": [
      "GARD:0018679",
      "MEDGEN:1842643",
      "Orphanet:176",
      "UMLS:C5681009"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "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": 8719,
      "label": "autosomal dominant chondrodysplasia punctata",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        4370,
        16531
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060293",
          "GARD:0001298",
          "MEDGEN:303176",
          "MESH:C563248",
          "OMIM:118650",
          "Orphanet:79344",
          "UMLS:C1442935"
        ],
        "synonyms": [
          "chondrodysplasia punctata Sheffield type",
          "chondrodysplasia punctata, Sheffield type",
          "chondrodysplasia punctata, autosomal dominant",
          "chondrodysplasia punctata due to vitamin K deficiency",
          "chondrodysplasia punctata due to warfarin teratogenicity"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Autosomal dominant form of chondrodysplasia punctata."
      },
      "child_count": 6,
      "reference_id": "MONDO:0007321"
    },
    {
      "id": 10231,
      "label": "chondrodysplasia punctata, Toriello type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16531
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016716",
          "MEDGEN:347071",
          "MESH:C565853",
          "OMIM:215105",
          "Orphanet:79347",
          "SCTID:715631005",
          "UMLS:C1859132",
          "icd11.foundation:1167798993"
        ],
        "synonyms": [
          "Toriello-Higgins-Miller syndrome",
          "chondrodysplasia punctata syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008973"
    },
    {
      "id": 11710,
      "label": "X-linked chondrodysplasia punctata",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        16531,
        19104
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060292",
          "GARD:0024737",
          "MEDGEN:538019",
          "UMLS:C0263627"
        ],
        "synonyms": [
          "CPXD",
          "chondrodysplasia punctata, X-linked",
          "X-linked dominant chondrodysplasia punctata",
          "chondrodysplasia punctata, X-linked dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "X-linked form of chondrodysplasia punctata."
      },
      "child_count": 6,
      "reference_id": "MONDO:0010556"
    }
  ],
  "roots": [
    {
      "id": 19476,
      "label": "chondrodysplasia punctata"
    }
  ]
}