{
  "id": 15509,
  "label": "fatty acyl-CoA reductase 1 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014510",
  "properties": {
    "xrefs": [
      "DOID:0081243",
      "GARD:0013319",
      "MEDGEN:863781",
      "OMIM:616154",
      "Orphanet:438178",
      "UMLS:C4015344"
    ],
    "synonyms": [
      "FAR1 deficiency",
      "fatty acyl-CoA reductase 1 deficiency",
      "fatty acyl-CoA reductase 1 disorder",
      "fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency",
      "rhizomelic chondrodysplasia punctata type 4",
      "severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency",
      "severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency",
      "severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder",
      "PFCRD",
      "peroxisomal fatty acyl-CoA reductase 1 disorder"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "A rhizomelic chondrodysplasia punctate that has material basis in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7019,
      "label": "eye disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4171,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1242",
          "DOID:5614",
          "EFO:0003966",
          "ICD9:360",
          "ICD9:360.29",
          "ICD9:360.89",
          "ICD9:360.9",
          "ICD9:379.8",
          "ICD9:379.90",
          "MEDGEN:5092",
          "MESH:D005128",
          "NCIT:C26767",
          "SCTID:371405004",
          "UMLS:C0015397"
        ],
        "synonyms": [
          "disease of eye",
          "disease of eyeball of camera-type eye",
          "disease or disorder of eyeball of camera-type eye",
          "disorder of eye",
          "disorder of eyeball of camera-type eye",
          "eye disease",
          "eye disorder",
          "eyeball of camera-type eye disease",
          "eyeball of camera-type eye disease or disorder",
          "globe disease",
          "disease of eyeball",
          "disorder of eye proper",
          "disorder of eyeball",
          "disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma."
      },
      "child_count": 240,
      "reference_id": "MONDO:0005328"
    },
    {
      "id": 19476,
      "label": "chondrodysplasia punctata",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2581",
          "GARD:0008542",
          "ICD10CM:Q77.3",
          "ICD9:756.59",
          "MEDGEN:3052",
          "MESH:D002806",
          "NANDO:2201017",
          "NCIT:C84632",
          "Orphanet:93442",
          "SCTID:360507004",
          "UMLS:C0008445",
          "icd11.foundation:1923035846"
        ],
        "synonyms": [
          "CDP",
          "chondrodysplasia calcificans congenita",
          "chondrodysplasia punctata (stippled epiphyses) Group",
          "chondrodysplasia punctata congenita"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis."
      },
      "child_count": 8,
      "reference_id": "MONDO:0019701"
    },
    {
      "id": 24013,
      "label": "fatty acyl-CoA reductase defects",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18162
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026117"
        ],
        "synonyms": [
          "FAR1 defect",
          "fatty acyl-CoA reductase defects"
        ],
        "definition": "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100275"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7019,
      "label": "eye disorder"
    },
    {
      "id": 19476,
      "label": "chondrodysplasia punctata"
    },
    {
      "id": 24013,
      "label": "fatty acyl-CoA reductase defects"
    }
  ]
}