{
  "id": 10136,
  "label": "microcephalic osteodysplastic primordial dwarfism type I",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008871",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2712,
      "label": "microcephalic osteodysplastic primordial dwarfism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3394
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022705"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0000060"
    },
    {
      "id": 7171,
      "label": "osteochondrodysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2256",
          "EFO:0005571",
          "ICD9:756.4",
          "MEDGEN:10495",
          "MESH:D010009",
          "NCIT:C84978",
          "SCTID:105985007",
          "UMLS:C0029422"
        ],
        "synonyms": [
          "skeletal dysplasia",
          "congenital skeletal dysplasia",
          "osteochondrodysplasia",
          "cartilage development disorder",
          "congenital anomaly of cartilage"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A term referring to disorders characterized by abnormalities in the development of bones and cartilage."
      },
      "child_count": 100,
      "reference_id": "MONDO:0005516"
    },
    {
      "id": 17405,
      "label": "microcephalic osteodysplastic primordial dwarfism types I and III",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        24802
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016994"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24488
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 550,
      "reference_id": "MONDO:0100500"
    },
    {
      "id": 24283,
      "label": "RNU4ATAC spectrum disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027275"
        ],
        "synonyms": [
          "RNU4ATAC-related disorder",
          "RNU4atac-opathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A syndromic disease characterized by growth restriction, microcephaly, skeletal dysplasia, and cognitive impairment. Less common but variable findings include brain anomalies, seizures, strokes, immunodeficiency, and cardiac anomalies, as well as ophthalmologic, skin, renal, gastrointestinal, hearing, and endocrine involvement. The term includes Microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI), Taybi-Linder syndrome, Lowry-Wood syndrome, and Roifman syndrome."
      },
      "child_count": 6,
      "reference_id": "MONDO:0100558"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2712,
      "label": "microcephalic osteodysplastic primordial dwarfism"
    },
    {
      "id": 7171,
      "label": "osteochondrodysplasia"
    },
    {
      "id": 17405,
      "label": "microcephalic osteodysplastic primordial dwarfism types I and III"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    },
    {
      "id": 24283,
      "label": "RNU4ATAC spectrum disorder"
    }
  ]
}