{
  "id": 17107,
  "label": "hereditary anemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016624",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 14,
  "parents": [
    {
      "id": 3835,
      "label": "deficiency anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4394
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13121",
          "GARD:0022980",
          "ICD9:281.8",
          "ICD9:281.9",
          "MEDGEN:508256",
          "SCTID:267513007",
          "UMLS:C0041782"
        ],
        "synonyms": [
          "deficiency anemias",
          "unspecified deficiency anaemia",
          "unspecified deficiency anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0001639"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 10058,
      "label": "microcytic anemia with liver iron overload",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2723,
        17107,
        17988
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012360",
          "MEDGEN:812483",
          "OMIM:206100",
          "Orphanet:83642",
          "SCTID:711161006",
          "UMLS:C3806153"
        ],
        "synonyms": [
          "anemia, hypochromic microcytic, with iron overload type 1",
          "AHMIO1",
          "anemia, hypochromic microcytic, with iron overload 1",
          "hypochromic microcytic anaemia with iron overload",
          "hypochromic microcytic anemia with iron overload",
          "microcytic anaemia and hepatic iron overload",
          "microcytic anemia and hepatic iron overload"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008787"
    },
    {
      "id": 10059,
      "label": "IRIDA syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3485,
        17107
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010957",
          "MEDGEN:39081",
          "MESH:C562385",
          "OMIM:206200",
          "Orphanet:209981",
          "SCTID:722005000",
          "UMLS:C0085576"
        ],
        "synonyms": [
          "IRIDA syndrome",
          "iron-refractory iron deficiency anaemia",
          "iron-refractory iron deficiency anemia",
          "IRIDA",
          "anemia, hypochromic microcytic, with defect in iron metabolism",
          "iron-handling disorder, hereditary",
          "pseudo-iron-deficiency Anaemia",
          "pseudo-iron-deficiency Anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008788"
    },
    {
      "id": 10113,
      "label": "atransferrinemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6470,
        17107,
        17988
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050649",
          "GARD:0009595",
          "MEDGEN:105489",
          "MESH:C538259",
          "NANDO:2100180",
          "NANDO:2200617",
          "NCIT:C125693",
          "NORD:819",
          "OMIM:209300",
          "Orphanet:1195",
          "SCTID:111571009",
          "UMLS:C0521802"
        ],
        "synonyms": [
          "atransferrinemia",
          "congenital atransferrinemia",
          "congenital hypotransferrinemia",
          "familial hypotransferrinemia",
          "hereditary atransferrinemia",
          "hypotransferrinemia, familial",
          "transferrin serum level quantitative trait locus 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008846"
    },
    {
      "id": 10481,
      "label": "hereditary folate malabsorption",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3888,
        17107,
        17632,
        20033
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111678",
          "GARD:0012983",
          "MEDGEN:83348",
          "MESH:C562799",
          "NANDO:1200810",
          "NANDO:2200592",
          "NCIT:C156424",
          "OMIM:229050",
          "Orphanet:90045",
          "SCTID:62578003",
          "UMLS:C0342705",
          "icd11.foundation:773545237"
        ],
        "synonyms": [
          "congenital folate malabsorption",
          "congenital defect of folate absorption",
          "folate malabsorption, hereditary",
          "folic acid transport defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009238"
    },
    {
      "id": 10483,
      "label": "formiminoglutamic aciduria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3888,
        17107,
        17632
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111679",
          "GARD:0009279",
          "ICD9:270.8",
          "MEDGEN:82823",
          "MESH:C537425",
          "OMIM:229100",
          "Orphanet:51208",
          "SCTID:59761008",
          "UMLS:C0268609",
          "icd11.foundation:664824338"
        ],
        "synonyms": [
          "FTCD deficiency",
          "formiminoglutamic aciduria",
          "formiminotransferase cyclodeaminase deficiency",
          "glutamate formiminotransferase deficiency",
          "Arakawa syndrome 1",
          "Figlu-Uria",
          "Formiminoglutamicaciduria (FIGLU-Uria)",
          "formiminoglutamic acidemia",
          "formiminotransferase deficiency",
          "formiminotransferase deficiency syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009240"
    },
    {
      "id": 11055,
      "label": "hereditary intrinsic factor deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17107,
        19087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050734",
          "GARD:0003024",
          "ICD9:281.3",
          "MEDGEN:1876474",
          "MESH:C563242",
          "MedDRA:10070440",
          "OMIM:261000",
          "Orphanet:332",
          "SCTID:34925000",
          "SCTID:60504009",
          "UMLS:C2062370"
        ],
        "synonyms": [
          "intrinsic factor deficiency",
          "IFD",
          "congenital intrinsic factor deficiency",
          "congenital pernicious anaemia",
          "congenital pernicious anemia",
          "gastric intrinsic factor deficiency",
          "hereditary juvenile megaloblastic anaemia due to intrinsic factor deficiency",
          "hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency",
          "congenital pernicious anaemia due to defect of intrinsic factor",
          "congenital pernicious anemia due to defect of intrinsic factor",
          "intrinsic factor, congenital deficiency of",
          "pernicious Anemia, congenital, due to defect of intrinsic Factor"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities."
      },
      "child_count": 2,
      "reference_id": "MONDO:0009852"
    },
    {
      "id": 11056,
      "label": "Imerslund-Grasbeck syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3888,
        4370,
        17107,
        19087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007006",
          "ICD9:281.3",
          "MEDGEN:1640347",
          "MESH:C538556",
          "OMIMPS:261100",
          "Orphanet:35858",
          "SCTID:360495000",
          "UMLS:C4551825",
          "icd11.foundation:375969525"
        ],
        "synonyms": [
          "Imerslund-Grasbeck syndrome",
          "Imerslund-Gräsbeck syndrome",
          "familial megaloblastic anaemia",
          "familial megaloblastic anemia",
          "juvenile megaloblastic Anaemia",
          "juvenile megaloblastic Anemia",
          "selective cobalamin malabsorption with proteinuria",
          "Gräsbeck-Imerslund disease",
          "defect of enterocyte intrinsic factor receptor",
          "enterocyte cobalamin malabsorption"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood."
      },
      "child_count": 8,
      "reference_id": "MONDO:0009853"
    },
    {
      "id": 11331,
      "label": "transcobalamin II deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6778,
        17107,
        19087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050818",
          "GARD:0012338",
          "ICD10CM:D51.2",
          "MEDGEN:137976",
          "NCIT:C142806",
          "OMIM:275350",
          "Orphanet:859",
          "SCTID:237934001",
          "UMLS:C0342701"
        ],
        "synonyms": [
          "TCN2 deficiency",
          "inherited deficiency of transcobalamin",
          "transcobalamin II deficiency",
          "TC 2 deficiency",
          "Tcn2 deficiency",
          "transcobalamin 2 deficiency",
          "transcobalamin deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010149"
    },
    {
      "id": 12531,
      "label": "aceruloplasminemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17107,
        17988,
        18404,
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050711",
          "GARD:0009499",
          "ICD9:277.6",
          "MEDGEN:168057",
          "NANDO:1200540",
          "NANDO:2200582",
          "NORD:707",
          "OMIM:604290",
          "Orphanet:48818",
          "SCTID:124224004",
          "UMLS:C0878682"
        ],
        "synonyms": [
          "cerebellar ataxia",
          "aceruloplasminemia",
          "hereditary ceruloplasmin deficiency",
          "hypoceruloplasminemia, hereditary",
          "ceruloplasmin deficiency",
          "familial apoceruloplasmin deficiency",
          "hemosiderosis, systemic, due to aceruloplasminemia",
          "hypoceruloplasminemia",
          "systemic hemosiderosis due to aceruloplasminemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011426"
    },
    {
      "id": 14487,
      "label": "constitutional megaloblastic anemia with severe neurologic disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3888,
        17107,
        17632
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0011000",
          "MEDGEN:462555",
          "MESH:C565095",
          "OMIM:613839",
          "Orphanet:319651",
          "SCTID:124178006",
          "UMLS:C3151205"
        ],
        "synonyms": [
          "DHFR deficiency",
          "dihydrofolate reductase deficiency",
          "megaloblastic anaemia due to dihydrofolate reductase deficiency",
          "megaloblastic anemia due to dihydrofolate reductase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013456"
    },
    {
      "id": 15103,
      "label": "severe congenital hypochromic anemia with ringed sideroblasts",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2723,
        3000,
        17107,
        19734
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014094"
    },
    {
      "id": 17252,
      "label": "methylmalonic aciduria and homocystinuria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4166,
        6511,
        17107,
        19083,
        19087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003579",
          "MEDGEN:1864102",
          "MESH:C537359",
          "OMIMPS:277400",
          "Orphanet:26",
          "UMLS:C5848324"
        ],
        "synonyms": [
          "combined defect in adenosylcobalamin and methylcobalamin synthesis",
          "methylmalonic aciduria with homocystinuria",
          "methylmalonic acidemia and homocystinemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ)."
      },
      "child_count": 30,
      "reference_id": "MONDO:0016826"
    },
    {
      "id": 18886,
      "label": "homocystinuria without methylmalonic aciduria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6511,
        7611,
        17107,
        19087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016537",
          "MEDGEN:929148",
          "OMIMPS:236270",
          "Orphanet:622",
          "SCTID:721225009",
          "UMLS:C4303479",
          "icd11.foundation:726186034"
        ],
        "synonyms": [
          "functional methionine synthase deficiency",
          "homocystinuria without methylmalonic aciduria",
          "methylcobalamin deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1)."
      },
      "child_count": 16,
      "reference_id": "MONDO:0018964"
    },
    {
      "id": 19738,
      "label": "vitamin B12- and folate-independent constitutional megaloblastic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3888,
        17107
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019464",
          "MEDGEN:1842832",
          "Orphanet:98415",
          "UMLS:C5681710"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0020112"
    }
  ],
  "roots": [
    {
      "id": 3835,
      "label": "deficiency anemia"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}