{
  "id": 16851,
  "label": "neuronal ceroid lipofuscinosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016295",
  "properties": {
    "xrefs": [
      "DOID:14503",
      "GARD:0010739",
      "ICD10CM:E75.4",
      "MEDGEN:10326",
      "NANDO:1200150",
      "NANDO:2200573",
      "NCIT:C61257",
      "OMIMPS:256730",
      "Orphanet:216",
      "SCTID:42012007",
      "UMLS:C0027877",
      "icd11.foundation:1568332253"
    ],
    "synonyms": [
      "NCL",
      "ceroid lipofuscinoses",
      "neuronal ceroid lipofuscinosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 14,
  "parents": [
    {
      "id": 19108,
      "label": "lysosomal lipid storage disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594,
        4625
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9455",
          "GARD:0012511",
          "ICD9:272.7",
          "ICD9:272.8",
          "MEDGEN:9780",
          "MESH:D008064",
          "Orphanet:79204",
          "SCTID:10741005",
          "UMLS:C0023794"
        ],
        "synonyms": [
          "inborn error of lipid storage",
          "lipid storage disease",
          "lipoid storage disease",
          "lipoid storage disorder",
          "rare inborn error of lipid storage",
          "lipidoses",
          "lipidosis",
          "lipoidoses",
          "lipoidosis"
        ],
        "definition": "An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes."
      },
      "child_count": 14,
      "reference_id": "MONDO:0019245"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020280",
          "MEDGEN:1825988",
          "MESH:D020271",
          "NCIT:C97073",
          "Orphanet:183500",
          "UMLS:C5680568"
        ],
        "synonyms": [
          "genetic neurodegenerative disease",
          "hereditary neurodegenerative disease",
          "hereditary neurodegenerative disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system."
      },
      "child_count": 164,
      "reference_id": "MONDO:0024237"
    }
  ],
  "children": [
    {
      "id": 10039,
      "label": "neuronal ceroid lipofuscinosis 3",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16851
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110731",
          "GARD:0005897",
          "MEDGEN:155549",
          "NCIT:C61258",
          "NORD:843",
          "OMIM:204200",
          "Orphanet:228346",
          "UMLS:C0751383"
        ],
        "synonyms": [
          "CLN3",
          "CLN3 neuronal ceroid lipofuscinosis",
          "Juvenile CLN3 Disease",
          "ceroid lipofuscinosis, neuronal, type 3",
          "neuronal ceroid lipofuscinosis 3",
          "neuronal ceroid lipofuscinosis caused by mutation in CLN3",
          "neuronal ceroid lipofuscinosis type 3",
          "CLN3 disease",
          "CLN3 disease, juvenile",
          "Spielmeyer Sjogren disease",
          "Spielmeyer-Sjogren disease",
          "Vogt Spielmeyer disease",
          "Vogt-Spielmeyer disease",
          "batten disease",
          "ceroid lipofuscinosis, neuronal, 3",
          "neuronal ceroid lipofuscinosis, juvenile"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments."
      },
      "child_count": 2,
      "reference_id": "MONDO:0008767"
    },
    {
      "id": 10040,
      "label": "ceroid lipofuscinosis, neuronal, 6B (Kufs type)",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16851
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110730",
          "GARD:0006845",
          "MEDGEN:1794137",
          "OMIM:204300",
          "Orphanet:228340",
          "Orphanet:700477",
          "UMLS:C5561927"
        ],
        "synonyms": [
          "CLN4A",
          "CLN6 neuronal ceroid lipofuscinosis",
          "neuronal ceroid lipofuscinosis caused by mutation in CLN6",
          "neuronal ceroid lipofuscinosis type 4A",
          "CLN4A disease",
          "Kuf's disease type A",
          "Kuf's disease, autosomal recessive",
          "adult neuronal ceroid lipofuscinosis 4A",
          "ceroid lipofuscinosis, neuronal, 4A, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008768"
    },
    {
      "id": 10041,
      "label": "neuronal ceroid lipofuscinosis 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16851
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110726",
          "GARD:0003045",
          "MEDGEN:406281",
          "NANDO:1200153",
          "NANDO:2201242",
          "NCIT:C85864",
          "OMIM:204500",
          "Orphanet:228349",
          "UMLS:C1876161"
        ],
        "synonyms": [
          "late infantile neuronal ceroid lipofuscinosis",
          "CLN2",
          "TPP1 neuronal ceroid lipofuscinosis",
          "ceroid lipofuscinosis, neuronal, type 2",
          "neuronal ceroid lipofuscinosis caused by mutation in TPP1",
          "neuronal ceroid lipofuscinosis type 2",
          "CLN2 disease",
          "CLN2 disease, juvenile (subtype)",
          "CLN2 disease, late infantile (subtype)",
          "Jansky-Bielschowsky disease",
          "ceroid lipofuscinosis, neuronal, 2",
          "ceroid lipofuscinosis, neuronal, 2, variable Age at onset",
          "neuronal ceroid lipofuscinosis, late infantile"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments."
      },
      "child_count": 3,
      "reference_id": "MONDO:0008769"
    },
    {
      "id": 10955,
      "label": "neuronal ceroid lipofuscinosis 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16851
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110721",
          "GARD:0001219",
          "MEDGEN:340540",
          "NANDO:1200152",
          "NANDO:2201241",
          "NCIT:C85861",
          "OMIM:214200",
          "OMIM:256730",
          "Orphanet:228329",
          "SCTID:720830009",
          "UMLS:C1850451"
        ],
        "synonyms": [
          "CLN1",
          "CLN1 disease",
          "CLN1 variable age at onset",
          "PPT1 neuronal ceroid lipofuscinosis",
          "ceroid lipofuscinosis neuronal 1",
          "ceroid lipofuscinosis, neuronal, 1",
          "ceroid lipofuscinosis, neuronal, 1, variable Age at onset",
          "ceroid lipofuscinosis, neuronal, type 1",
          "ceroid storage disease",
          "neuronal ceroid lipofuscinosis 1",
          "neuronal ceroid lipofuscinosis caused by mutation in PPT1",
          "neuronal ceroid lipofuscinosis type 1",
          "Santavuori disease",
          "Santavuori-Haltia disease",
          "adult CLN (type of CLN1)",
          "classic late infantile CLN (type of CLN1)",
          "infantile CLN (type of CLN1)",
          "infantile neuronal ceroid lipofuscinosis",
          "juvenile CLN (type of CLN1)",
          "neuronal ceroid lipofuscinosis, infantile",
          "congenital NCL",
          "congenital neuronal ceroid lipofuscinosis",
          "lipofuscin storage disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments."
      },
      "child_count": 4,
      "reference_id": "MONDO:0009744"
    },
    {
      "id": 10956,
      "label": "neuronal ceroid lipofuscinosis 5",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16446,
        16851
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110728",
          "GARD:0001223",
          "MEDGEN:376792",
          "MESH:C575534",
          "OMIM:256731",
          "Orphanet:228360",
          "UMLS:C1850442"
        ],
        "synonyms": [
          "CLN5",
          "CLN5 neuronal ceroid lipofuscinosis",
          "ceroid lipofuscinosis, neuronal, type 5",
          "neuronal ceroid lipofuscinosis caused by mutation in CLN5",
          "neuronal ceroid lipofuscinosis type 5",
          "CLN5 disease",
          "CLN5 disease, adult",
          "CLN5 disease, juvenile",
          "CLN5 disease, late infantile (subtype)",
          "Finnish Vlincl",
          "ceroid lipofuscinosis, neuronal, 5",
          "ceroid lipofuscinosis, neuronal, 5, variable Age at onset",
          "neuronal ceroid lipofuscinosis Finnish variant",
          "neuronal ceroid lipofuscinosis, late infantile, Finnish variant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms."
      },
      "child_count": 6,
      "reference_id": "MONDO:0009745"
    },
    {
      "id": 11966,
      "label": "neuronal ceroid lipofuscinosis 8",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16851
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110723",
          "GARD:0017152",
          "MEDGEN:374004",
          "MESH:C537952",
          "OMIM:600143",
          "Orphanet:228354",
          "SCTID:703526007",
          "UMLS:C1838570"
        ],
        "synonyms": [
          "CLN8",
          "CLN8 neuronal ceroid lipofuscinosis",
          "ceroid lipofuscinosis, neuronal, type 8",
          "neuronal ceroid lipofuscinosis 8",
          "neuronal ceroid lipofuscinosis caused by mutation in CLN8",
          "neuronal ceroid lipofuscinosis type 8",
          "CLN8 disease",
          "ceroid lipofuscinosis, neuronal, 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0010830"
    },
    {
      "id": 12266,
      "label": "ceroid lipofuscinosis, neuronal, 6A",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16446,
        16851
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110729",
          "GARD:0001224",
          "MEDGEN:1790423",
          "MESH:C566627",
          "OMIM:601780",
          "Orphanet:228363",
          "UMLS:C5551375"
        ],
        "synonyms": [
          "CLN6",
          "CLN6 late infantile neuronal ceroid lipofuscinosis",
          "CLN6A",
          "ceroid lipofuscinosis, neuronal, type 6",
          "late infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6",
          "neuronal ceroid lipofuscinosis type 6",
          "neuronal ceroid lipofuscinosis, late infantile, variant",
          "vLINCL",
          "CLN6 disease",
          "CLN6 disease, adult Kufs type A (subtype)",
          "CLN6 disease, late infantile (subtype)",
          "ceroid lipofuscinosis, neuronal, 6",
          "ceroid lipofuscinosis, neuronal, 6, variable age at onset",
          "neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms."
      },
      "child_count": 4,
      "reference_id": "MONDO:0011144"
    },
    {
      "id": 13465,
      "label": "neuronal ceroid lipofuscinosis 10",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16851
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110725",
          "GARD:0001218",
          "MEDGEN:350481",
          "MESH:C566438",
          "OMIM:610127",
          "Orphanet:228337",
          "SCTID:720831008",
          "UMLS:C1864669"
        ],
        "synonyms": [
          "CLN10",
          "CLN10-NCL",
          "CTSD neuronal ceroid lipofuscinosis",
          "ceroid lipofuscinosis, neuronal, type 10",
          "neuronal ceroid lipofuscinosis caused by mutation in CTSD",
          "neuronal ceroid lipofuscinosis due to cathepsin D deficiency",
          "neuronal ceroid lipofuscinosis type 10",
          "CLN10 disease",
          "CLN10 disease, adult (subtype)",
          "CLN10 disease, congenital (subtype)",
          "CLN10 disease, juvenile (subtype)",
          "CLN10 disease, late infantile (subtype)",
          "ceroid lipofuscinosis neuronal Cathepsin D-deficient",
          "ceroid lipofuscinosis, neuronal, 10",
          "ceroid lipofuscinosis, neuronal, Cathepsin D-deficient",
          "neuronal ceroid lipofuscinosis due to Cathepsin D deficiency",
          "neuronal ceroid lipofuscinosis, congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms."
      },
      "child_count": 3,
      "reference_id": "MONDO:0012414"
    },
    {
      "id": 13635,
      "label": "neuronal ceroid lipofuscinosis 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16446,
        16851
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110722",
          "GARD:0001220",
          "MEDGEN:325457",
          "MESH:C563989",
          "OMIM:610951",
          "Orphanet:228366",
          "UMLS:C1838571"
        ],
        "synonyms": [
          "CLN7",
          "MFSD8 neuronal ceroid lipofuscinosis",
          "ceroid lipofuscinosis, neuronal, type 7",
          "neuronal ceroid lipofuscinosis 7",
          "neuronal ceroid lipofuscinosis caused by mutation in MFSD8",
          "neuronal ceroid lipofuscinosis type 7",
          "CLN7 disease",
          "CLN7 disease, late infantile",
          "ceroid lipofuscinosis, neuronal, 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012588"
    },
    {
      "id": 13761,
      "label": "progressive myoclonic epilepsy type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16168,
        16851,
        19726
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111446",
          "GARD:0002167",
          "MEDGEN:388595",
          "MESH:C567095",
          "OMIM:611726",
          "Orphanet:263516",
          "Orphanet:699708",
          "SCTID:783064000",
          "UMLS:C2673257",
          "icd11.foundation:383417276"
        ],
        "synonyms": [
          "CLN14 disease",
          "EPM3",
          "KCTD7 progressive myoclonic epilepsy",
          "PME type 3",
          "epilepsy, progressive myoclonic 3, with or without intracellular inclusions",
          "neuronal ceroid lipofuscinosis type 14",
          "progressive myoclonic epilepsy caused by mutation in KCTD7",
          "progressive myoclonic epilepsy due to KCTD7 deficiency",
          "progressive myoclonic epilepsy type 3",
          "progressive myoclonus epilepsy type 3",
          "EPM 3",
          "epilepsy progressive myoclonic type 3",
          "epilepsy, progressive myoclonic, 3, with or without intracellular inclusions",
          "progressive myoclonic epilepsy 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012721"
    },
    {
      "id": 19121,
      "label": "adult neuronal ceroid lipofuscinosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16851,
        19753
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010973",
          "MEDGEN:7230",
          "NANDO:1200155",
          "NANDO:2201244",
          "NORD:1341",
          "Orphanet:79262",
          "SCTID:62009002",
          "UMLS:C0022797",
          "icd11.foundation:1460031344"
        ],
        "synonyms": [
          "ANCL",
          "Kufs disease",
          "adult NCL",
          "adult neuronal ceroid lipofuscinosis",
          "neuronal ceroid lipofuscinosis of adults",
          "CLN4 disease, adult autosomal dominant",
          "Kuf's disease",
          "neuronal ceroid lipofuscinosis 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration."
      },
      "child_count": 10,
      "reference_id": "MONDO:0019260"
    },
    {
      "id": 19122,
      "label": "infantile neuronal ceroid lipofuscinosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16851,
        19753
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009447",
          "MEDGEN:75666",
          "NANDO:1200152",
          "NANDO:2201241",
          "NORD:1689",
          "Orphanet:79263",
          "SCTID:58258004",
          "UMLS:C0268281",
          "icd11.foundation:797123687"
        ],
        "synonyms": [
          "Classic Infantile CLN1 Disease",
          "Hagberg-Santavuori disease",
          "INCL",
          "Santavuori disease",
          "Santavuori-Haltia disease",
          "infantile NCL"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities."
      },
      "child_count": 4,
      "reference_id": "MONDO:0019261"
    },
    {
      "id": 19123,
      "label": "juvenile neuronal ceroid lipofuscinosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16851,
        19753
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050756",
          "GARD:0004938",
          "MedDRA:10052073",
          "NANDO:1200154",
          "NANDO:2201243",
          "Orphanet:79264",
          "SCTID:61663001",
          "icd11.foundation:1716107919"
        ],
        "synonyms": [
          "JNCL",
          "Spielmeyer-Vogt disease",
          "batten disease",
          "juvenile NCL",
          "juvenile neuronal ceroid lipofuscinosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities."
      },
      "child_count": 16,
      "reference_id": "MONDO:0019262"
    },
    {
      "id": 25090,
      "label": "congenital neuronal ceroid lipofuscinosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16851
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017031",
          "MEDGEN:351189",
          "Orphanet:168486",
          "UMLS:C1864670",
          "icd11.foundation:641209188"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0850001"
    }
  ],
  "roots": [
    {
      "id": 19108,
      "label": "lysosomal lipid storage disorder"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder"
    }
  ]
}