{
  "id": 12025,
  "label": "lethal hemolytic anemia-genital anomalies syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010891",
  "properties": {
    "xrefs": [
      "GARD:0002642",
      "MEDGEN:333019",
      "MESH:C563935",
      "OMIM:600461",
      "Orphanet:1046",
      "UMLS:C1838120"
    ],
    "synonyms": [
      "water-West syndrome",
      "hemolytic anaemia lethal congenital nonspherocytic with genital and other abnormalities",
      "hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities",
      "hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 5550,
      "label": "hemolytic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5966
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:583",
          "GARD:0023610",
          "ICD10CM:D55-D59",
          "MEDGEN:1916",
          "MESH:D000743",
          "NANDO:2200636",
          "NCIT:C34376",
          "SCTID:61261009",
          "UMLS:C0002878"
        ],
        "synonyms": [
          "anaemia hemolytic",
          "anemia hemolytic",
          "anemia, hemolytic",
          "hemolytic anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies."
      },
      "child_count": 11,
      "reference_id": "MONDO:0003664"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5550,
      "label": "hemolytic anemia"
    }
  ]
}