{
  "id": 14032,
  "label": "pancreatic insufficiency-anemia-hyperostosis syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012992",
  "properties": {
    "xrefs": [
      "GARD:0017095",
      "MEDGEN:436369",
      "MESH:C567195",
      "OMIM:612714",
      "Orphanet:199337",
      "SCTID:722207000",
      "UMLS:C2675184"
    ],
    "synonyms": [
      "pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome",
      "exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A rare syndromic mitochondrial disease in which the cause of the disease is a mutation in the COX4I2 gene. It is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3874,
      "label": "exocrine pancreatic insufficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4455
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13316",
          "ICD10CM:K86.81",
          "ICD9:577.8",
          "MEDGEN:75647",
          "MESH:D010188",
          "NCIT:C84316",
          "SCTID:47367009",
          "UMLS:C0267963"
        ],
        "synonyms": [
          "exocrine pancreatic insufficiency",
          "exocrine pancreas insufficiency",
          "pancreatic insufficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders."
      },
      "child_count": 1,
      "reference_id": "MONDO:0001684"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:98053",
          "Orphanet:364526",
          "UMLS:C0410528"
        ],
        "synonyms": [
          "Mendelian skeletal dysplasia",
          "primary bone dysplasia",
          "primary osteodysplasia",
          "primary skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any Mendelian diseases that affects growth and development of the skeleton."
      },
      "child_count": 238,
      "reference_id": "MONDO:0018230"
    },
    {
      "id": 19232,
      "label": "congenital dyserythropoietic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5573
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1338",
          "GARD:0001999",
          "ICD10CM:D64.4",
          "ICD9:285.8",
          "MEDGEN:8064",
          "MESH:D000742",
          "NANDO:1200885",
          "NANDO:2100178",
          "NANDO:2200615",
          "NCIT:C84646",
          "OMIMPS:224120",
          "Orphanet:85",
          "SCTID:52951008",
          "UMLS:C0002876",
          "icd11.foundation:899830967"
        ],
        "synonyms": [
          "CDA",
          "anemia, congenital dyserythropoietic",
          "congenital dyshaematopoietic anaemia",
          "congenital dyshaematopoietic anemia",
          "dyserythropoietic anemia, congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA."
      },
      "child_count": 9,
      "reference_id": "MONDO:0019403"
    },
    {
      "id": 22753,
      "label": "mitochondrial complex IV deficiency, nuclear-type",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2715
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3762",
          "GARD:0000048",
          "MEDGEN:1830397",
          "MESH:D030401",
          "NCIT:C98910",
          "OMIMPS:220110",
          "Orphanet:254905",
          "SCTID:67434000",
          "UMLS:C5779825"
        ],
        "synonyms": [
          "Cytochrome C Oxidase Deficiency",
          "cytochrome-C oxidase deficiency",
          "cytochrome-c oxidase deficiency disease",
          "isolated COX deficiency",
          "isolated mitochondrial respiratory chain complex IV deficiency",
          "mitochondrial complex IV deficiency",
          "mitochondrial respiratory complex IV deficiency",
          "COX deficiency",
          "Cox deficiency",
          "complex 4 mitochondrial respiratory chain deficiency",
          "complex IV deficiency",
          "deficiency of mitochondrial respiratory chain complex4",
          "isolated cytochrome C oxidase deficiency",
          "mitochondrial complex 4 deficiency"
        ],
        "definition": "A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis."
      },
      "child_count": 22,
      "reference_id": "MONDO:0033885"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3874,
      "label": "exocrine pancreatic insufficiency"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    },
    {
      "id": 19232,
      "label": "congenital dyserythropoietic anemia"
    },
    {
      "id": 22753,
      "label": "mitochondrial complex IV deficiency, nuclear-type"
    }
  ]
}