{
  "id": 24283,
  "label": "RNU4ATAC spectrum disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100558",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    }
  ],
  "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": 10434,
      "label": "Lowry-Wood syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24283,
        24802
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000264",
          "MEDGEN:162899",
          "MESH:C537038",
          "MedDRA:10062600",
          "OMIM:226960",
          "Orphanet:1824",
          "SCTID:721975004",
          "UMLS:C0796021",
          "icd11.foundation:1713071905"
        ],
        "synonyms": [
          "LWS",
          "Lowry Wood syndrome",
          "Lowry-Wood syndrome",
          "epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy",
          "epiphyseal dysplasia-microcephaly-nystagmus syndrome",
          "epiphyseal dysplasia, microcephaly and nystagmus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009191"
    },
    {
      "id": 15714,
      "label": "Roifman syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6778,
        17206,
        24283,
        24802
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009163",
          "MEDGEN:375801",
          "MESH:C535866",
          "OMIM:300258",
          "OMIM:616651",
          "Orphanet:353298",
          "UMLS:C1846059"
        ],
        "synonyms": [
          "RFMN",
          "Roifman syndrome",
          "spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency",
          "spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome",
          "spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014722"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}