{
  "id": 17405,
  "label": "microcephalic osteodysplastic primordial dwarfism types I and III",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016994",
  "properties": {
    "xrefs": [
      "GARD:0005120",
      "MEDGEN:1380769",
      "Orphanet:2636",
      "SCTID:725461009",
      "UMLS:C4319565"
    ],
    "synonyms": [
      "MOPD types I and III",
      "microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type",
      "primordial microcephalic dwarfism, Crachami type",
      "Taybi-Linder syndrome",
      "MOPD 1",
      "brachymelic primordial dwarfism",
      "cephaloskeletal dysplasia",
      "low-birth-weight dwarfism with skeletal dysplasia",
      "microcephalic osteodysplastic primordial dwarfism type 1",
      "microcephalic osteodysplastic primordial dwarfism types 1 and 3",
      "osteodysplastic primordial dwarfism type I"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 24802,
      "label": "primordial dwarfism and slender bone disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026426"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death."
      },
      "child_count": 26,
      "reference_id": "MONDO:0800063"
    }
  ],
  "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": 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": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 24802,
      "label": "primordial dwarfism and slender bone disorder"
    }
  ]
}