{
  "id": 9069,
  "label": "alpha thalassemia-intellectual disability syndrome type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007716",
  "properties": {
    "xrefs": [
      "DECIPHER:65",
      "DOID:0110029",
      "GARD:0016862",
      "ICD9:282.49",
      "MEDGEN:162892",
      "MESH:C563050",
      "NORD:1879",
      "OMIM:141750",
      "Orphanet:98791",
      "SCTID:277918006",
      "UMLS:C0795917"
    ],
    "synonyms": [
      "ATR syndrome linked to chromosome 16",
      "ATR syndrome, deletion type",
      "ATR-16 Syndrome",
      "ATR-16 syndrome",
      "Alpha thalassemia-intellectual disability syndrome",
      "Alpha thalassemia-intellectual disability syndrome, deletion type",
      "Alpha thalassemia-mental retardation syndrome",
      "Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16",
      "alpha thalassemia-intellectual disability syndrome, deletion type",
      "alpha-thalassemia-intellectual disability syndrome linked to chromosome 16",
      "alpha-thalassemia/intellectual disability syndrome, deletion-type",
      "alpha-thalassemia/intellectual disability syndrome, type 1",
      "alpha-thalassemia/mental retardation syndrome, deletion-type",
      "ALPHA-thalassemia/intellectual disability syndrome, chromosome 16-related",
      "ALPHA-thalassemia/mental retardation syndrome, chromosome 16-related",
      "ATR, deletion-type",
      "Alpha-thalassemia/intellectual disability syndrome, deletion-type",
      "Alpha-thalassemia/mental retardation syndrome, deletion-type",
      "Haemoglobin H-related intellectual disability",
      "Haemoglobin H-related mental retardation",
      "Hemoglobin H-related intellectual disability",
      "Hemoglobin H-related mental retardation",
      "chromosome 16P deletion syndrome",
      "intellectual disability with Haemoglobin H",
      "intellectual disability with Hemoglobin H",
      "mental retardation with Haemoglobin H",
      "mental retardation with Hemoglobin H"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 7217,
      "label": "hematologic disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:74",
          "EFO:0005803",
          "GTR:AN1320635",
          "ICD10CM:D50-D89",
          "ICD9:280-289",
          "ICD9:289.8",
          "ICD9:289.9",
          "MEDGEN:5483",
          "MESH:D006402",
          "NANDO:1100006",
          "NANDO:2100175",
          "NCIT:C26323",
          "Orphanet:97992",
          "SCTID:414022008",
          "UMLS:C0018939"
        ],
        "synonyms": [
          "blood disease",
          "blood disorder",
          "disease of hematopoietic system",
          "disease of the blood and blood-forming organs",
          "disease or disorder of haematopoietic system",
          "disease or disorder of hematopoietic system",
          "disorder of haematopoietic system",
          "disorder of hematopoietic system",
          "haematological disease",
          "haematological disorder",
          "haematological system disease",
          "haematopoietic disease",
          "haematopoietic system disease or disorder",
          "hematologic and lymphocytic disorder",
          "hematologic disorder",
          "hematological disease",
          "hematological disorder",
          "hematological system disease",
          "hematopoietic disease",
          "hematopoietic system disease",
          "hematopoietic system disease or disorder",
          "rare hematologic disease",
          "haematological disorders and malignancies",
          "hematological disorders and malignancies"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A disease involving the hematopoietic system."
      },
      "child_count": 27,
      "reference_id": "MONDO:0005570"
    },
    {
      "id": 17317,
      "label": "partial deletion of the short arm of chromosome 16",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17303
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1825967",
          "Orphanet:261956",
          "UMLS:C5679670",
          "icd11.foundation:934406879"
        ],
        "synonyms": [
          "partial deletion of chromosome 16p",
          "partial deletion of the short arm of chromosome type 16",
          "partial monosomy of chromosome 16p",
          "partial monosomy of the short arm of chromosome 16"
        ]
      },
      "child_count": 9,
      "reference_id": "MONDO:0016894"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7217,
      "label": "hematologic disorder"
    },
    {
      "id": 17317,
      "label": "partial deletion of the short arm of chromosome 16"
    }
  ]
}