{
  "id": 17221,
  "label": "multiple congenital anomalies due to 14q32.2 maternally expressed gene defect",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016779",
  "properties": {
    "xrefs": [
      "DOID:0111712",
      "GARD:0017219",
      "MEDGEN:1830421",
      "Orphanet:254519",
      "UMLS:C5779872"
    ],
    "synonyms": [
      "Kagami-Ogata syndrome",
      "MCA due to 14q32.2 maternally expressed gene defect"
    ],
    "definition": "A rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "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": 24225,
      "label": "multiple congenital anomalies due to 14q32.2 imprinting defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026252"
        ],
        "definition": "Multiple congenital anomalies caused by imprinting defects at 14q32.2 include Kagami-Ogata syndrome and Temple syndrome. Kagami-Ogata syndrome is characterized by typical facial features, skeletal abnormalities (including \"coat-hanger ribs\", and bell-shaped thorax), abdominal wall defects, and developmental delay, and is caused by defects or absence of maternally derived imprinting signals (including paternal UPD14). Temple syndrome is a less specific phenotype including intrauterine and postnatal growth restriction, hypotonia, feeding difficulties in infancy, truncal obesity, and small feet and hands. Temple syndrome is caused by defects or absence of paternally derived imprinting signals (including maternal UPD14)."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100499"
    }
  ],
  "children": [
    {
      "id": 13046,
      "label": "paternal uniparental disomy of chromosome 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17221,
        24419,
        24482
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005409",
          "MEDGEN:1843450",
          "MESH:C536471",
          "NANDO:1200685",
          "OMIM:608149",
          "Orphanet:96334",
          "UMLS:C5680251",
          "icd11.foundation:1835121942"
        ],
        "synonyms": [
          "UPD(14)pat",
          "paternal uniparental disomy of chromosome 14",
          "paternal uniparental disomy of chromosome type 14",
          "KAGAMI-Ogata syndrome",
          "paternal uniparental disomy 14",
          "uniparental disomy, paternal, chromosome 14"
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011975"
    },
    {
      "id": 17223,
      "label": "maternal 14q32.2 microdeletion syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017221",
          "MEDGEN:1842712",
          "Orphanet:254528",
          "UMLS:C5679640"
        ],
        "synonyms": [
          "maternal del(14)(q32.2)",
          "maternal monosomy 14q32.2"
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016781"
    },
    {
      "id": 17225,
      "label": "maternal 14q32.2 hypermethylation syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017223",
          "MEDGEN:1843365",
          "Orphanet:254534",
          "UMLS:C5680720"
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016783"
    }
  ],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 24225,
      "label": "multiple congenital anomalies due to 14q32.2 imprinting defect"
    }
  ]
}