{
  "id": 10029,
  "label": "alopecia - intellectual disability syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008756",
  "properties": {
    "xrefs": [
      "DOID:0080627",
      "GARD:0000612",
      "MEDGEN:444019",
      "OMIMPS:203650",
      "Orphanet:2850",
      "SCTID:716191002",
      "UMLS:C2931280"
    ],
    "synonyms": [
      "Perniola-Krajewska-Carnevale syndrome",
      "alopecia-intellectual disability syndrome",
      "AMR syndrome 1",
      "Amr syndrome",
      "alopecia intellectual disbility syndrome 1",
      "alopecia with severe intellectual deficit"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "An extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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": 13536,
      "label": "alopecia-intellectual disability syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10029
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080629",
          "GARD:0004291",
          "MEDGEN:372142",
          "MESH:C563668",
          "OMIM:610422",
          "UMLS:C1835852"
        ],
        "synonyms": [
          "alopecia-intellectual disability syndrome 2",
          "alopecia-mental retardation syndrome 2",
          "AMR syndrome 2",
          "APMR2",
          "alopecia intellectual disability syndrome 2",
          "alopecia with mild to moderate intellectual deficit"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012487"
    },
    {
      "id": 14523,
      "label": "alopecia-intellectual disability syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10029
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080951",
          "GARD:0015730",
          "MEDGEN:462712",
          "OMIM:613930",
          "UMLS:C3151362"
        ],
        "synonyms": [
          "APMR3",
          "alopecia-intellectual disability syndrome 3",
          "alopecia-mental retardation syndrome 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013492"
    },
    {
      "id": 20281,
      "label": "alopecia-intellectual disability syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10029
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080628",
          "GARD:0025277",
          "MEDGEN:349263",
          "OMIM:203650",
          "UMLS:C1859878"
        ],
        "synonyms": [
          "APMR",
          "APMR1",
          "alopecia-intellectual disability syndrome 1",
          "alopecia-mental retardation syndrome 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0021035"
    },
    {
      "id": 21797,
      "label": "alopecia-intellectual disability syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10029
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080950",
          "GARD:0016386",
          "MEDGEN:1713432",
          "OMIM:618840",
          "UMLS:C5394241"
        ],
        "synonyms": [
          "ALOPECIA-MENTAL RETARDATION SYNDROME 4",
          "APMR4",
          "alopecia-intellectual disability syndrome 4",
          "alopecia-mental retardation syndrome 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030009"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}