{
  "id": 2712,
  "label": "microcephalic osteodysplastic primordial dwarfism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000060",
  "properties": {
    "xrefs": [
      "GARD:0022705"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 3394,
      "label": "microcephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383,
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10907",
          "HP:0000252",
          "ICD10CM:Q02",
          "ICD10WHO:Q02",
          "ICD9:742.1",
          "MEDGEN:1644158",
          "MESH:D008831",
          "NCIT:C85874",
          "SCTID:1829003",
          "UMLS:C4551563",
          "icd11.foundation:179350437"
        ],
        "synonyms": [
          "microcephalus",
          "microcephaly",
          "microcephaly (disease)",
          "microencephaly"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex."
      },
      "child_count": 20,
      "reference_id": "MONDO:0001149"
    }
  ],
  "children": [
    {
      "id": 10136,
      "label": "microcephalic osteodysplastic primordial dwarfism type I",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2712,
        7171,
        17405,
        24226,
        24283
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060608",
          "GARD:0015144",
          "MEDGEN:347149",
          "OMIM:210710",
          "SCTID:254102008",
          "UMLS:C1859452"
        ],
        "synonyms": [
          "MOPD 1",
          "MOPD1",
          "Taybi-Linder syndrome",
          "brachymelic primordial dwarfism",
          "cephaloskeletal dysplasia",
          "low-birth-weight dwarfism with skeletal dysplasia",
          "microcephalic osteodysplastic primordial dwarfism, type 1",
          "microcephalic osteodysplastic primordial dwarfism, type I",
          "osteodysplastic primordial dwarfism, type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008871"
    },
    {
      "id": 10137,
      "label": "microcephalic osteodysplastic primordial dwarfism type II",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2712,
        7171,
        24226,
        24802
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060609",
          "GARD:0009844",
          "MEDGEN:96587",
          "MESH:C565898",
          "OMIM:210720",
          "Orphanet:2637",
          "SCTID:254103003",
          "UMLS:C0432246"
        ],
        "synonyms": [
          "MOPD type II",
          "Majewski osteodysplastic primordial dwarfism type II",
          "MOPD II",
          "MOPD2",
          "Mopd 2",
          "microcephalic osteodysplastic primordial dwarfism type 2",
          "microcephalic osteodysplastic primordial dwarfism with tooth abnormalities",
          "microcephalic osteodysplastic primordial dwarfism, type 2",
          "microcephalic osteodysplastic primordial dwarfism, type II",
          "osteodysplastic primordial dwarfism type 2",
          "osteodysplastic primordial dwarfism, type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008872"
    },
    {
      "id": 10138,
      "label": "microcephalic osteodysplastic primordial dwarfism, type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2712,
        17405,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015145",
          "MEDGEN:349167",
          "MESH:C537320",
          "OMIM:210730",
          "UMLS:C1859439"
        ],
        "synonyms": [
          "Mopd 3",
          "Mopd, Caroline Crachami type",
          "Mopd, Sicilian fairy type",
          "microcephalic osteodysplastic primordial dwarfism, Caroline Crachami type",
          "microcephalic osteodysplastic primordial dwarfism, Sicilian fairy type",
          "microcephalic osteodysplastic primordial dwarfism, type III",
          "osteodysplastic primordial dwarfism, type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008873"
    }
  ],
  "roots": [
    {
      "id": 3394,
      "label": "microcephaly"
    }
  ]
}