{
  "id": 23873,
  "label": "NAA10-related syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100124",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        24021
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060309",
          "OMIMPS:309510",
          "Orphanet:98464"
        ],
        "synonyms": [
          "X-linked syndromic intellectual disability",
          "intellectual disability, X-linked syndromic",
          "mental retardation, X-linked syndromic",
          "syndromic X-linked intellectual disability",
          "syndromic intellectual disability, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A syndromic intellectual disability with an X-linked mode of inheritance."
      },
      "child_count": 162,
      "reference_id": "MONDO:0020119"
    }
  ],
  "children": [
    {
      "id": 11616,
      "label": "Ogden syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20383,
        23873
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010457"
    },
    {
      "id": 11816,
      "label": "microphthalmia, syndromic 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16704,
        23873
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111799",
          "GARD:0015304",
          "ICD9:759.89",
          "MEDGEN:162898",
          "MESH:C537464",
          "MESH:C564457",
          "OMIM:309800",
          "Orphanet:85275",
          "SCTID:438504004",
          "SCTID:717222003",
          "UMLS:C0796016"
        ],
        "synonyms": [
          "ANOP1, formerly",
          "Lenz dysplasia",
          "Lenz microphthalmia syndrome",
          "MAA, formerly",
          "MCOPS1",
          "MCOPS4",
          "MCOPS4, formerly",
          "microphthalmia syndromic 4",
          "microphthalmia with ankyloblepharon and intellectual disability",
          "microphthalmia with ankyloblepharon and mental retardation",
          "microphthalmia, syndromic 1",
          "microphthalmia, syndromic 4, formerly",
          "microphthalmia, syndromic type 1",
          "syndromic microphthalmia type 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010671"
    }
  ],
  "roots": [
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability"
    }
  ]
}