{
  "id": 10232,
  "label": "Greenberg dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008974",
  "properties": {
    "xrefs": [
      "DOID:0111588",
      "GARD:0008754",
      "MEDGEN:418969",
      "MESH:C535858",
      "NANDO:2201361",
      "OMIM:215140",
      "Orphanet:1426",
      "SCTID:389261002",
      "UMLS:C2931048",
      "icd11.foundation:1858458540"
    ],
    "synonyms": [
      "Greenberg dysplasia",
      "hem dysplasia",
      "hydrops-ectopic calcification-motheaten syndrome",
      "skeletal dysplasia, Greenberg type",
      "GRBGD",
      "Greenberg skeletal dysplasia",
      "autosomal recessive lethal chondrodystrophy with congenital hydrops",
      "chondrodystrophy, hydropic and prenatally lethal type",
      "hem",
      "hem skeletal dysplasia",
      "hem/Greenberg dysplasia",
      "hydrops, ectopic calcification, moth-eaten skeletal dysplasia",
      "hydrops-ectopic calcification-moth-eaten skeletal dysplasia",
      "moth-eaten skeletal dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19104,
      "label": "sterol biosynthesis disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16198,
        19117
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018969",
          "MEDGEN:1843040",
          "Orphanet:79195",
          "UMLS:C5681287"
        ],
        "synonyms": [
          "inborn error of sterol biosynthetic process",
          "inborn sterol biosynthetic process disorder",
          "rare inborn error of sterol biosynthetic process"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process."
      },
      "child_count": 14,
      "reference_id": "MONDO:0019240"
    },
    {
      "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"
    },
    {
      "id": 20345,
      "label": "laminopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019444",
          "MEDGEN:1716073",
          "MESH:D000083083",
          "Orphanet:98301",
          "UMLS:C5392094"
        ],
        "definition": "A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina."
      },
      "child_count": 14,
      "reference_id": "MONDO:0021106"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19104,
      "label": "sterol biosynthesis disorder"
    },
    {
      "id": 19476,
      "label": "chondrodysplasia punctata"
    },
    {
      "id": 20345,
      "label": "laminopathy"
    }
  ]
}