{
  "id": 18886,
  "label": "homocystinuria without methylmalonic aciduria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018964",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 6511,
      "label": "homocystinuria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6510,
        19088
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9263",
          "GARD:0010770",
          "HP:0002156",
          "ICD10CM:E72.11",
          "MEDGEN:42485",
          "MESH:D006712",
          "NANDO:1201038",
          "NANDO:2200474",
          "NCIT:C84765",
          "SCTID:11282001",
          "UMLS:C0019880"
        ],
        "synonyms": [
          "homocystinuria",
          "homocystinuria (disease)",
          "CBS deficiency",
          "cystathionine beta synthase deficiency",
          "cystathionine synthase deficiency"
        ],
        "definition": "An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems."
      },
      "child_count": 10,
      "reference_id": "MONDO:0004737"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": 19087,
      "label": "inborn disorder of cobalamin metabolism and transport",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7182,
        17984,
        20104
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050731",
          "GARD:0018951",
          "MEDGEN:1826150",
          "Orphanet:79171",
          "UMLS:C5681844",
          "icd11.foundation:936546617"
        ],
        "synonyms": [
          "cobalamin deficiency",
          "hypocobalaminemia",
          "inborn disorder of cobalamin metabolism and transport",
          "inborn error of cobalamin metabolic process",
          "inborn vitamin B12 deficiency (disease)",
          "rare inborn error of cobalamin metabolic process",
          "disorder of cobalamin metabolism and transport"
        ],
        "definition": "An inherited metabolic disease affecting cobalamin (vitamin B12) intestinal absorption, transport in the blood, uptake by peripheral cells or cellular metabolism."
      },
      "child_count": 27,
      "reference_id": "MONDO:0019220"
    }
  ],
  "children": [
    {
      "id": 10586,
      "label": "methylcobalamin deficiency type cblE",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18886
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050732",
          "DOID:0112255",
          "GARD:0003576",
          "MEDGEN:344640",
          "MESH:C565510",
          "NANDO:2201109",
          "NCIT:C142173",
          "OMIM:236270",
          "Orphanet:2169",
          "UMLS:C1856057"
        ],
        "synonyms": [
          "functional methionine synthase deficiency type cblE",
          "homocystinuria-megaloblastic anemia, cbl e type",
          "methylcobalamin deficiency type cblE",
          "HMAE",
          "homocystinuria due to defect in methylation Cbl e",
          "homocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblE complementation type",
          "homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblE complementation type",
          "homocystinuria-megaloblastic anemia, cblE complementation type",
          "methylcobalamin deficiency, cblE type",
          "methylmalonic aciduria and homocystinuria type cblE",
          "vitamin B12-responsive homocystinuria, cblE type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009354"
    },
    {
      "id": 10829,
      "label": "methylcobalamin deficiency type cblG",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18886
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050733",
          "DOID:0112256",
          "GARD:0003577",
          "MEDGEN:344426",
          "NANDO:2201111",
          "OMIM:250940",
          "Orphanet:2170",
          "SCTID:721187005",
          "UMLS:C1855128"
        ],
        "synonyms": [
          "functional methionine synthase deficiency type cblG",
          "methylcobalamin deficiency type cblG",
          "HMAG",
          "cblG",
          "homocystinuria due to defect in methylation Cbl g",
          "homocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblG complementation type",
          "homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation type",
          "homocystinuria-megaloblastic anemia, cblG complementation type",
          "methionine synthase deficiency",
          "methylcobalamin deficiency Cbl G type",
          "methylcobalamin deficiency, cblG type",
          "methylmalonic aciduria and homocystinuria type cblG"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009609"
    },
    {
      "id": 17923,
      "label": "methylcobalamin deficiency type cblDv1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18886,
        24189
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017385",
          "MEDGEN:1826168",
          "Orphanet:308380",
          "UMLS:C5679956"
        ],
        "synonyms": [
          "functional methionine synthase deficiency type cblDv1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017683"
    },
    {
      "id": 24690,
      "label": "homocystinuria-megaloblastic anemia cblD type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18886
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027384",
          "MEDGEN:341254",
          "OMIM:620952",
          "UMLS:C1848553"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0700297"
    }
  ],
  "roots": [
    {
      "id": 6511,
      "label": "homocystinuria"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 17107,
      "label": "hereditary anemia"
    },
    {
      "id": 19087,
      "label": "inborn disorder of cobalamin metabolism and transport"
    }
  ]
}