{
  "id": 9693,
  "label": "Silver-Russell syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008394",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 11,
  "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"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025062",
          "Orphanet:102284"
        ],
        "synonyms": [
          "MCA/variable MR",
          "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"
        ]
      },
      "child_count": 69,
      "reference_id": "MONDO:0015160"
    },
    {
      "id": 18950,
      "label": "chromosomal disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080014",
          "ICD10CM:Q90-Q99",
          "ICD9:758.89",
          "MEDGEN:3441",
          "MESH:D025063",
          "NANDO:1100014",
          "NANDO:2100279",
          "NANDO:2100280",
          "NCIT:C34470",
          "Orphanet:68335",
          "SCTID:409709004",
          "UMLS:C0008626"
        ],
        "synonyms": [
          "chromosomal disease",
          "chromosomal disorder",
          "chromosomal disorders",
          "chromosome disorder",
          "disorder, chromosomal",
          "disorder, chromosome",
          "disorders, chromosomal",
          "disorders, chromosome",
          "autosomal chromosome disorder",
          "autosomal chromosome disorders",
          "chromosome abnormality disorder",
          "chromosome abnormality disorders",
          "chromosome disorder, autosomal",
          "chromosome disorders, autosomal",
          "disorder, chromosome abnormality"
        ],
        "definition": "Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)"
      },
      "child_count": 18,
      "reference_id": "MONDO:0019040"
    }
  ],
  "children": [
    {
      "id": 11867,
      "label": "Russell-silver syndrome, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9693
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024750",
          "ICD9:758.81",
          "MEDGEN:67401",
          "OMIM:312780",
          "UMLS:C0220775"
        ],
        "synonyms": [
          "Russell-silver syndrome, X-linked",
          "Partington syndrome",
          "Russell-Silver-like syndrome with skin pigmentation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010727"
    },
    {
      "id": 15658,
      "label": "Silver-Russell syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9693
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018463",
          "MEDGEN:894912",
          "OMIM:616489",
          "UMLS:C4225307"
        ],
        "synonyms": [
          "SRS3",
          "growth restriction, severe, with distinctive facies",
          "GRDF"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014663"
    },
    {
      "id": 16989,
      "label": "silver-Russell syndrome due to 7p11.2p13 microduplication",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9693,
        17360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020603",
          "MEDGEN:1826059",
          "Orphanet:231137",
          "UMLS:C5679840"
        ],
        "synonyms": [
          "Silver-Russell syndrome due to 7p11.2-p13 microduplication",
          "Silver-Russell syndrome due to dup(7)(p11.2p13)",
          "Silver-Russell syndrome due to trisomy 7p11.2-p13",
          "Silver-Russell syndrome due to trisomy 7p11.2p13"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016479"
    },
    {
      "id": 16990,
      "label": "silver-Russell syndrome due to an imprinting defect of 11p15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9693
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020604",
          "MEDGEN:1826102",
          "Orphanet:231140",
          "UMLS:C5680916"
        ],
        "synonyms": [
          "Silver-Russell syndrome due to an imprinting defect of type 11p15"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016480"
    },
    {
      "id": 16991,
      "label": "silver-Russell syndrome due to 11p15 microduplication",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9693,
        17363
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020605",
          "MEDGEN:1826103",
          "Orphanet:231144",
          "UMLS:C5680917"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016481"
    },
    {
      "id": 16992,
      "label": "silver-Russell syndrome due to maternal uniparental disomy of chromosome 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9693,
        24416,
        24482
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020606",
          "MEDGEN:1843295",
          "Orphanet:231147",
          "UMLS:C5679841"
        ],
        "synonyms": [
          "Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11",
          "UPD(11)mat"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016482"
    },
    {
      "id": 19633,
      "label": "silver-Russell syndrome due to maternal uniparental disomy of chromosome 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9693,
        24412,
        24482
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019913"
    },
    {
      "id": 20194,
      "label": "Silver-Russell syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9693
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018465",
          "MEDGEN:1713787",
          "OMIM:618908",
          "UMLS:C5394456"
        ],
        "synonyms": [
          "SILVER-RUSSELL SYNDROME 5",
          "SRS5",
          "Silver-Russell syndrome 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020795"
    },
    {
      "id": 20195,
      "label": "Silver-Russell syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9693
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025253",
          "MEDGEN:1718472",
          "OMIM:180860",
          "UMLS:C5393125"
        ],
        "synonyms": [
          "SRS1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020796"
    },
    {
      "id": 21855,
      "label": "silver-russell syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9693
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025524",
          "MEDGEN:1714148",
          "OMIM:618905",
          "UMLS:C5394446"
        ],
        "synonyms": [
          "SILVER-RUSSELL SYNDROME 2",
          "SRS2",
          "Uniparental Disomy, Maternal, Chromosome 7",
          "silver-russell syndrome 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030116"
    },
    {
      "id": 21856,
      "label": "silver-russell syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9693
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018464",
          "MEDGEN:1712866",
          "OMIM:618907",
          "UMLS:C5394450"
        ],
        "synonyms": [
          "SILVER-RUSSELL SYNDROME 4",
          "SRS4",
          "silver-russell syndrome 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030118"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    },
    {
      "id": 18950,
      "label": "chromosomal disorder"
    }
  ]
}