{
  "id": 15103,
  "label": "severe congenital hypochromic anemia with ringed sideroblasts",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014094",
  "properties": {
    "xrefs": [
      "GARD:0017364",
      "MEDGEN:815250",
      "OMIM:615234",
      "Orphanet:300298",
      "SCTID:725463007",
      "UMLS:C3808920"
    ],
    "synonyms": [
      "anemia, hypochromic microcytic, with iron overload type 2",
      "severe congenital hypochromic sideroblastic anaemia",
      "severe congenital hypochromic sideroblastic anemia",
      "AHMIO2",
      "anemia, hypochromic microcytic, with iron overload 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2723,
      "label": "anemia, hypochromic microcytic with iron overload",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2886,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022710",
          "MEDGEN:388759",
          "MESH:C567144",
          "OMIMPS:206100",
          "UMLS:C2673913"
        ],
        "synonyms": [
          "anemia, hypochromic microcytic, with iron overload"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0000104"
    },
    {
      "id": 3000,
      "label": "congenital anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4394,
        10564
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022807",
          "MEDGEN:102361",
          "NCIT:C35228",
          "SCTID:63565007",
          "UMLS:C0158995"
        ],
        "synonyms": [
          "congenital anaemia (disease)",
          "congenital anemia",
          "congenital anemia (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Anemia, the cause of which is present at birth."
      },
      "child_count": 16,
      "reference_id": "MONDO:0000577"
    },
    {
      "id": 17107,
      "label": "hereditary anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3835,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020669",
          "MEDGEN:1842172",
          "Orphanet:248296",
          "UMLS:C5680695"
        ],
        "synonyms": [
          "constitutional deficiency anemia",
          "constitutional rare deficiency anaemia",
          "constitutional rare deficiency anemia",
          "inherited deficiency anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 28,
      "reference_id": "MONDO:0016624"
    },
    {
      "id": 19734,
      "label": "inherited sideroblastic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16106
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019453",
          "MEDGEN:65119",
          "NANDO:1200892",
          "OMIMPS:300751",
          "Orphanet:98362",
          "UMLS:C0221018",
          "icd11.foundation:789053868"
        ],
        "synonyms": [
          "constitutional sideroblastic anaemia",
          "constitutional sideroblastic anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 16,
      "reference_id": "MONDO:0020099"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2723,
      "label": "anemia, hypochromic microcytic with iron overload"
    },
    {
      "id": 3000,
      "label": "congenital anemia"
    },
    {
      "id": 17107,
      "label": "hereditary anemia"
    },
    {
      "id": 19734,
      "label": "inherited sideroblastic anemia"
    }
  ]
}