{
  "id": 11616,
  "label": "Ogden syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010457",
  "properties": {
    "xrefs": [
      "DOID:0050781",
      "GARD:0017281",
      "HGNC:7645",
      "MEDGEN:477078",
      "MESH:C536107",
      "NCIT:C188215",
      "OMIM:300855",
      "Orphanet:276432",
      "UMLS:C3275447"
    ],
    "synonyms": [
      "N-terminal acetyltransferase deficiency",
      "OGDNS",
      "Ogden syndrome",
      "Ogden syndrome, X-linked recessive, X-linked dominant",
      "premature ageing appearance-developmental delay-cardiac arrhythmia syndrome",
      "premature aging appearance-developmental delay-cardiac arrhythmia syndrome",
      "Acetyl-CoA:arylamine n-acetyltransferase",
      "N acetyltransferase 1 deficiency",
      "N acetyltransferase deficiency",
      "NAT1 deficiency",
      "arylamine n-acetyltransferase 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    },
    {
      "id": 23873,
      "label": "NAA10-related syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19742
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026055"
        ],
        "synonyms": [
          "NAA10 X-linked syndromic intellectual disability",
          "NAA10-related syndrome",
          "X-linked syndromic intellectual disability caused by mutation in NAA10"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Ab X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100124"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    },
    {
      "id": 23873,
      "label": "NAA10-related syndrome"
    }
  ]
}