{
  "id": 19633,
  "label": "silver-Russell syndrome due to maternal uniparental disomy of chromosome 7",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019913",
  "properties": {
    "xrefs": [
      "GARD:0019334",
      "MEDGEN:1826074",
      "Orphanet:96182",
      "UMLS:C5680247"
    ],
    "synonyms": [
      "Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7",
      "UPD(7)mat"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 9693,
      "label": "Silver-Russell syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        16088,
        18950
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14681",
          "GARD:0004870",
          "ICD9:759.89",
          "MEDGEN:104492",
          "MESH:D056730",
          "MedDRA:10062282",
          "NCIT:C85068",
          "NORD:1683",
          "OMIMPS:180860",
          "Orphanet:813",
          "SCTID:15069006",
          "UMLS:C0175693",
          "icd11.foundation:735297495"
        ],
        "synonyms": [
          "Russell Silver syndrome",
          "Russell-Silver Syndrome",
          "Russell-Silver dwarfism",
          "Russell-Silver syndrome",
          "SRS",
          "Silver Russell syndrome",
          "Silver-Russell dwarfism",
          "Silver-Russell syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry."
      },
      "child_count": 44,
      "reference_id": "MONDO:0008394"
    },
    {
      "id": 24412,
      "label": "chromosome 7 disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19716
      ],
      "type_id": 0,
      "properties": {
        "definition": "Chromosomal disorder in which chromosome 7 is affected."
      },
      "child_count": 6,
      "reference_id": "MONDO:0700014"
    },
    {
      "id": 24482,
      "label": "uniparental disomy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18950
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:181871",
          "MESH:D024182",
          "NCIT:C85215",
          "UMLS:C0949628"
        ],
        "definition": "A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders."
      },
      "child_count": 27,
      "reference_id": "MONDO:0700086"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9693,
      "label": "Silver-Russell syndrome"
    },
    {
      "id": 24412,
      "label": "chromosome 7 disorder"
    },
    {
      "id": 24482,
      "label": "uniparental disomy"
    }
  ]
}