{
  "id": 13556,
  "label": "agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012508",
  "properties": {
    "xrefs": [
      "GARD:0010011",
      "MEDGEN:351236",
      "MESH:C538055",
      "OMIM:610483",
      "Orphanet:83617",
      "SCTID:722281001",
      "UMLS:C1864848"
    ],
    "synonyms": [
      "agammaglobulinemia, microcephaly, and severe dermatitis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A syndrome that combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4075,
      "label": "congenital agammaglobulinemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        10564,
        16629
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14177",
          "GARD:0023034",
          "ICD9:279.04",
          "MEDGEN:1806025",
          "UMLS:C5574711"
        ],
        "synonyms": [
          "congenital agammaglobulinemia",
          "congenital hypogammaglobulinemia (finding)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An instance of agammaglobulinemia that is present from birth."
      },
      "child_count": 4,
      "reference_id": "MONDO:0001902"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 16974,
      "label": "syndromic agammaglobulinemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16629
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020596",
          "MEDGEN:1843258",
          "NCIT:C26931",
          "Orphanet:229720",
          "UMLS:C5680904"
        ],
        "synonyms": [
          "hypogammaglobulinemia",
          "syndrome associated with agammaglobulinemia",
          "syndromic agammaglobulinemia",
          "syndromic hypogammaglobulinemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A agammaglobulinemia that is part of a larger syndrome."
      },
      "child_count": 6,
      "reference_id": "MONDO:0016463"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4075,
      "label": "congenital agammaglobulinemia"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 16974,
      "label": "syndromic agammaglobulinemia"
    }
  ]
}