{
  "id": 9966,
  "label": "abetalipoproteinemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008692",
  "properties": {
    "xrefs": [
      "DOID:1386",
      "GARD:0000005",
      "MEDGEN:1253",
      "MESH:D000012",
      "NANDO:1200857",
      "NANDO:2200604",
      "NCIT:C84525",
      "NORD:703",
      "OMIM:200100",
      "Orphanet:14",
      "SCTID:190787008",
      "UMLS:C0000744",
      "icd11.foundation:1117838449"
    ],
    "synonyms": [
      "Bassen-Kornzweig disease",
      "abetalipoproteinemia",
      "homozygous familial hypobetalipoproteinemia",
      "ABL",
      "Bassen Kornzweig syndrome",
      "Bassen-Kornzweig syndrome",
      "Betalipoprotein deficiency disease",
      "MTP deficiency",
      "abetalipoproteinemia neuropathy",
      "acanthocytosis",
      "apolipoprotein B deficiency",
      "congenital betalipoprotein deficiency syndrome",
      "microsomal triglyceride transfer Protein deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 5573,
      "label": "familial hemolytic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5550,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:589",
          "GARD:0006167",
          "ICD9:282",
          "ICD9:282.9",
          "MEDGEN:1919",
          "MESH:D000745",
          "NANDO:2100183",
          "NCIT:C34379",
          "SCTID:42601008",
          "UMLS:C0002881"
        ],
        "synonyms": [
          "congenital hemolytic anemia",
          "hereditary hemolytic anemia",
          "anaemia hemolytic congenital",
          "anemia hemolytic congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies."
      },
      "child_count": 46,
      "reference_id": "MONDO:0003689"
    },
    {
      "id": 6756,
      "label": "intestinal disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6151
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5295",
          "EFO:0009431",
          "ICD9:520-579",
          "ICD9:560-569",
          "ICD9:564",
          "ICD9:564.4",
          "ICD9:569",
          "ICD9:569.4",
          "ICD9:569.49",
          "ICD9:569.89",
          "ICD9:569.9",
          "ICD9:570-579",
          "ICD9:575",
          "MEDGEN:7130",
          "MESH:D007410",
          "NCIT:C26801",
          "SCTID:85919009",
          "UMLS:C0021831"
        ],
        "synonyms": [
          "disease of intestine",
          "disease or disorder of intestine",
          "disorder of intestine",
          "intestinal disease",
          "intestinal disorder",
          "intestine disease",
          "intestine disease or disorder",
          "disease, intestinal",
          "diseases, intestinal"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the small or large intestine."
      },
      "child_count": 58,
      "reference_id": "MONDO:0005020"
    },
    {
      "id": 17998,
      "label": "hypobetalipoproteinemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4003
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1390",
          "GARD:0018802",
          "MEDGEN:6978",
          "MESH:D006995",
          "Orphanet:31154",
          "SCTID:190786004",
          "UMLS:C0020597",
          "icd11.foundation:1934975006"
        ],
        "definition": "A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017774"
    },
    {
      "id": 19712,
      "label": "autosomal recessive metabolic cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019413",
          "MEDGEN:1842756",
          "Orphanet:98096",
          "UMLS:C5681517"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0020044"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5573,
      "label": "familial hemolytic anemia"
    },
    {
      "id": 6756,
      "label": "intestinal disorder"
    },
    {
      "id": 17998,
      "label": "hypobetalipoproteinemia"
    },
    {
      "id": 19712,
      "label": "autosomal recessive metabolic cerebellar ataxia"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}