{
  "id": 17252,
  "label": "methylmalonic aciduria and homocystinuria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016826",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 4166,
      "label": "methylmalonic acidemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3084
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14749",
          "GARD:0007033",
          "ICD10CM:E71.120",
          "ICD9:270.7",
          "MEDGEN:120654",
          "MESH:C537358",
          "NANDO:1200793",
          "NANDO:2200491",
          "NCIT:C98986",
          "OMIMPS:251000",
          "SCTID:42393006",
          "UMLS:C0268583"
        ],
        "synonyms": [
          "methylmalonic aciduria",
          "METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency",
          "METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A",
          "METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B",
          "methylmalonic acidemia, cblA type",
          "methylmalonic acidemia, cblB type",
          "methylmalonic aciduria cblB type",
          "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency",
          "methylmalonic aciduria mut type",
          "methylmalonic aciduria type cblA",
          "methylmalonic aciduria type cblB",
          "methylmalonic aciduria, mut type",
          "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type",
          "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type"
        ],
        "definition": "A genetically heterogenous inherited disorder characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease."
      },
      "child_count": 7,
      "reference_id": "MONDO:0002012"
    },
    {
      "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": 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": 19083,
      "label": "classic organic aciduria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3084
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018947",
          "MEDGEN:1842457",
          "Orphanet:79163",
          "UMLS:C5681291",
          "icd11.foundation:1879509617"
        ]
      },
      "child_count": 15,
      "reference_id": "MONDO:0019215"
    },
    {
      "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": 11365,
      "label": "methylmalonic aciduria and homocystinuria type cblF",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17252
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050717",
          "GARD:0003584",
          "MEDGEN:336373",
          "MESH:C564747",
          "NANDO:2201110",
          "OMIM:277380",
          "Orphanet:79284",
          "SCTID:80887004",
          "UMLS:C1848578"
        ],
        "synonyms": [
          "cblF defect",
          "cobalamin F defect",
          "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF",
          "inherited methylmalonic acidemia and homocystinuria",
          "lysosomal membrane cobalamin transporter deficiency",
          "methylmalonic aciduria and homocystinuria type cblF",
          "methylmalonic aciduria with homocystinuria, type cblF",
          "MAHCF",
          "cblF methylmalonic acidemia and homocystinuria",
          "cobalamin F disease",
          "cobalamin locus f variant",
          "cobalamin, defect in lysosomal release of",
          "methylmalonic acidemia and homocystinuria, cblF type",
          "methylmalonic acidemia with homocystinuria type cblF",
          "methylmalonic aciduria and homocystinuria, cblF type",
          "methylmalonic aciduria due to vitamin B12-release defect",
          "vitamin B12 lysosomal release defect",
          "vitamin B12 storage disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010183"
    },
    {
      "id": 11366,
      "label": "methylmalonic aciduria and homocystinuria type cblC",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17252,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050715",
          "GARD:0012128",
          "MEDGEN:341256",
          "NANDO:1201040",
          "NANDO:2201107",
          "NCIT:C142174",
          "OMIM:277400",
          "Orphanet:79282",
          "SCTID:74653006",
          "UMLS:C1848561"
        ],
        "synonyms": [
          "cblC defect",
          "cobalamin C defect",
          "cobalamin c disease",
          "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC",
          "methylmalonic aciduria and homocystinuria type cblC",
          "methylmalonic aciduria with homocystinuria, type cblC",
          "MAHCC",
          "cblC",
          "cblC - cobalamin locus c",
          "cblC methylmalonic acidemia and homocystinuria",
          "cobalamin locus c variant",
          "methylmalonic acidemia and homocystinuria cblC",
          "methylmalonic acidemia and homocystinuria, cblC type",
          "methylmalonic acidemia with homocystinuria type cblC",
          "methylmalonic acidemia with homocystinuria, type cblC",
          "methylmalonic aciduria and homocystinuria cblC",
          "methylmalonic aciduria and homocystinuria, cblC type",
          "methylmalonic aciduria and homocystinuria, cblC type, digenic",
          "methylmalonic aciduria and homocystinuria, vitamin B12-responsive",
          "vitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010184"
    },
    {
      "id": 11367,
      "label": "methylmalonic aciduria and homocystinuria type cblD",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17252,
        24189
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050716",
          "GARD:0003582",
          "MEDGEN:341253",
          "MESH:C564743",
          "NANDO:1200797",
          "NANDO:2201108",
          "OMIM:277410",
          "Orphanet:79283",
          "SCTID:31220004",
          "UMLS:C1848552"
        ],
        "synonyms": [
          "cblD defect",
          "cobalamin D defect",
          "cobalamin d disease",
          "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD",
          "methylmalonic aciduria and homocystinuria type cblD",
          "methylmalonic aciduria with homocystinuria, type cblD",
          "MAHCD",
          "cblD - cobalamin locus d",
          "cblD methylmalonic acidemia and homocystinuria",
          "homocystinuria, cblD type, variant 1",
          "homocystinuria, cblD type, variant 1, included",
          "m0e.321 cobalamin locus d variant",
          "mehtylmalonic acidemia with homocystinuria cbI d",
          "methylmalonic acidemia and homocystinuria, cblD type",
          "methylmalonic acidemia with homocystinuria type cblD",
          "methylmalonic acidemia with homocystinuria, type cblD",
          "methylmalonic acidemia, Cblh type",
          "methylmalonic acidemia, Cblh type, formerly",
          "methylmalonic aciduria and homocystinuria, cblD type",
          "methylmalonic aciduria, Cblh type",
          "methylmalonic aciduria, Cblh type, formerly",
          "methylmalonic aciduria, cblD type, variant 2",
          "methylmalonic aciduria, cblD type, variant 2, included"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010185"
    },
    {
      "id": 11803,
      "label": "methylmalonic acidemia with homocystinuria, type cblX",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17252,
        19054
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111814",
          "GARD:0013137",
          "MEDGEN:167111",
          "MESH:C563136",
          "OMIM:309541",
          "Orphanet:369962",
          "UMLS:C0796208"
        ],
        "synonyms": [
          "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX",
          "methylmalonic aciduria and homocysteinemia, cblx type, X-linked recessive",
          "methylmalonic aciduria with homocystinuria, type cblX",
          "intellectual disability, X-linked 3",
          "mental retardation, X-linked 3",
          "methylmalonic acidemia and HOMOCYSTEINEMIA, cblX type",
          "methylmalonic acidemia and homocysteinemia type cblX"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010657"
    },
    {
      "id": 14937,
      "label": "methylmalonic acidemia with homocystinuria, type cblJ",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17252
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012621",
          "MEDGEN:766829",
          "OMIM:614857",
          "Orphanet:369955",
          "UMLS:C3553915"
        ],
        "synonyms": [
          "cblJ defects",
          "cobalamin J defect",
          "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ",
          "methylmalonic aciduria with homocystinuria, type cblJ",
          "MAHCJ",
          "methylmalonic acidemia with homocystinuria type cblJ",
          "methylmalonic aciduria and homocystinuria, cblJ type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013925"
    },
    {
      "id": 26107,
      "label": "methylmalonic aciduria and homocystinuria, cb1L type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17252
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027317",
          "MEDGEN:1874917",
          "OMIM:620940",
          "UMLS:C5975387"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0975798"
    }
  ],
  "roots": [
    {
      "id": 4166,
      "label": "methylmalonic acidemia"
    },
    {
      "id": 6511,
      "label": "homocystinuria"
    },
    {
      "id": 17107,
      "label": "hereditary anemia"
    },
    {
      "id": 19083,
      "label": "classic organic aciduria"
    },
    {
      "id": 19087,
      "label": "inborn disorder of cobalamin metabolism and transport"
    }
  ]
}