{
  "id": 16360,
  "label": "hereditary dementia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015547",
  "properties": {
    "xrefs": [
      "GARD:0020028",
      "MEDGEN:1842422",
      "Orphanet:158124",
      "UMLS:C5680680"
    ],
    "synonyms": [
      "genetic dementia"
    ],
    "definition": "An instance of dementia that is caused by an inherited genomic modification in an individual."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 15,
  "parents": [
    {
      "id": 3823,
      "label": "dementia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4186
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1307",
          "HP:0000726",
          "ICD10CM:F02",
          "ICD9:290.8",
          "ICD9:294.1",
          "ICD9:294.8",
          "MEDGEN:99229",
          "MESH:D003704",
          "NCIT:C4786",
          "SCTID:52448006",
          "UMLS:C0497327",
          "icd11.foundation:1468768235",
          "icd11.foundation:546689346"
        ],
        "synonyms": [
          "dementia",
          "dementia (disease)"
        ],
        "definition": "Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders."
      },
      "child_count": 9,
      "reference_id": "MONDO:0001627"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    }
  ],
  "children": [
    {
      "id": 12440,
      "label": "neuronal intranuclear inclusion disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7073,
        16360,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081294",
          "GARD:0003971",
          "MEDGEN:355075",
          "MESH:C537395",
          "NCIT:C122655",
          "OMIM:603472",
          "Orphanet:2289",
          "SCTID:715437003",
          "UMLS:C1863843",
          "icd11.foundation:693937860"
        ],
        "synonyms": [
          "neuronal intranuclear inclusion disease",
          "Niid",
          "neuronal intranuclear hyaline inclusion disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011327"
    },
    {
      "id": 14612,
      "label": "hereditary sensory neuropathy-deafness-dementia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5338,
        16360,
        18346,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070158",
          "GARD:0011927",
          "MEDGEN:481515",
          "MESH:C580162",
          "NORD:1903",
          "OMIM:614116",
          "Orphanet:456318",
          "UMLS:C3279885"
        ],
        "synonyms": [
          "HSAN1E",
          "HSN1E",
          "Hereditary Sensory and Autonomic Neuropathy Type 1E",
          "hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome",
          "DNMT1-related dementia, deafness, and sensory neuropathy",
          "HSN 1E",
          "HSNIE",
          "hereditary sensory and autonomic neuropathy type 1E",
          "hereditary sensory neuropathy type 1E",
          "hereditary sensory neuropathy with hearing loss and dementia",
          "neuropathy, hereditary sensory, type 1E",
          "neuropathy, hereditary sensory, type IE",
          "neuropathy, hereditary sensory, with hearing loss and dementia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013584"
    },
    {
      "id": 15046,
      "label": "Alzheimer disease 17",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6717,
        16360,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110049",
          "GARD:0027854",
          "MEDGEN:767366",
          "OMIM:615080",
          "UMLS:C3554452"
        ],
        "synonyms": [
          "AD17",
          "Alzheimer disease 17",
          "Alzheimer's disease 17",
          "Alzheimer's disease type 17",
          "Alzheimer disease 17, late-onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014036"
    },
    {
      "id": 15270,
      "label": "Alzheimer disease 18",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6717,
        16360,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110050",
          "GARD:0024982",
          "MEDGEN:816371",
          "OMIM:615590",
          "UMLS:C3810041"
        ],
        "synonyms": [
          "AD18",
          "ADAM10 Alzheimer disease",
          "Alzheimer disease 18",
          "Alzheimer disease caused by mutation in ADAM10",
          "Alzheimer disease type 18",
          "Alzheimer's disease 18",
          "Alzheimer's disease type 18",
          "Alzheimer disease 18, late-onset",
          "Alzheimer disease 18, susceptibility to"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014265"
    },
    {
      "id": 16361,
      "label": "Huntington disease-like syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2754,
        16360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020029",
          "ICD9:333.99",
          "MEDGEN:777988",
          "MESH:C580174",
          "Orphanet:158266",
          "SCTID:702376003",
          "UMLS:C3711380"
        ],
        "synonyms": [
          "Huntington disease phenocopy syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 20,
      "reference_id": "MONDO:0015548"
    },
    {
      "id": 17506,
      "label": "frontotemporal dementia with motor neuron disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7073,
        16360,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017273",
          "MEDGEN:854771",
          "MESH:C566288",
          "OMIMPS:105550",
          "Orphanet:275872",
          "UMLS:C3888102",
          "icd11.foundation:1171850356"
        ],
        "synonyms": [
          "FTD-ALS",
          "FTD-MND",
          "FTDALS",
          "frontotemporal dementia with ALS",
          "frontotemporal dementia with amyotrophic lateral sclerosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset."
      },
      "child_count": 21,
      "reference_id": "MONDO:0017161"
    },
    {
      "id": 17600,
      "label": "frontotemporal dementia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16360,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9255",
          "GARD:0008436",
          "ICD10CM:G31.0",
          "MEDGEN:83266",
          "MESH:D057180",
          "MedDRA:10068968",
          "NANDO:1200548",
          "NCIT:C84719",
          "Orphanet:282",
          "UMLS:C0338451",
          "icd11.foundation:831337417"
        ],
        "synonyms": [
          "FTD",
          "MSTD",
          "frontotemporal lobe dementia (FLDEM)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy."
      },
      "child_count": 8,
      "reference_id": "MONDO:0017276"
    },
    {
      "id": 18404,
      "label": "neurodegeneration with brain iron accumulation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4393,
        4397,
        7073,
        16360,
        18954,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110734",
          "GARD:0011899",
          "MEDGEN:444156",
          "MESH:C538421",
          "NANDO:2100241",
          "OMIMPS:234200",
          "Orphanet:385",
          "UMLS:C2931845",
          "icd11.foundation:440483530"
        ],
        "synonyms": [
          "NBIA",
          "neurodegeneration with brain iron accumulation"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system."
      },
      "child_count": 84,
      "reference_id": "MONDO:0018307"
    },
    {
      "id": 18515,
      "label": "PRKAR1B-related neurodegenerative dementia with intermediate filaments",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16360,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021738",
          "MEDGEN:1654800",
          "Orphanet:412066",
          "UMLS:C4751505"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018475"
    },
    {
      "id": 18561,
      "label": "adrenoleukodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        7151,
        16360,
        18952,
        24100
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10588",
          "GARD:0005758",
          "MEDGEN:57667",
          "MESH:D000326",
          "MedDRA:10051260",
          "NANDO:1200165",
          "NANDO:2200576",
          "NCIT:C61252",
          "NORD:736",
          "OMIM:300100",
          "Orphanet:43",
          "UMLS:C0162309",
          "icd11.foundation:1085655586"
        ],
        "synonyms": [
          "ABCD1 deficiency",
          "ALD",
          "Bronze-Schilder disease",
          "Siemerling-Creutzfeldt disease",
          "X-ALD",
          "X-Linked Adrenoleukodystrophy",
          "X-linked ALD",
          "X-linked adrenoleukodystrophy",
          "adrenoleukodystrophy",
          "adrenoleukodystrophy, X-linked",
          "adrenoleukodystrophy, X-linked recessive",
          "adrenomyeloneuropathy, adult",
          "adrenomyeloneuropathy, adult, X-linked recessive",
          "diffuse cerebral sclerosis of Schilder",
          "diffuse sclerosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency."
      },
      "child_count": 15,
      "reference_id": "MONDO:0018544"
    },
    {
      "id": 18685,
      "label": "corticobasal syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7073,
        16360,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081392",
          "GARD:0013168",
          "MEDGEN:1801322",
          "Orphanet:454887",
          "UMLS:C5575119"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018696"
    },
    {
      "id": 18800,
      "label": "metachromatic leukodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16360,
        18952,
        19116,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10581",
          "GARD:0003230",
          "ICD10CM:E75.25",
          "MEDGEN:6071",
          "MESH:D007966",
          "MedDRA:10067609",
          "NANDO:1200078",
          "NANDO:2200560",
          "NCIT:C61251",
          "NORD:1369",
          "Orphanet:512",
          "SCTID:238031009",
          "SCTID:396338004",
          "SCTID:66521008",
          "UMLS:C0023522",
          "icd11.foundation:172326564"
        ],
        "synonyms": [
          "MLD",
          "arylsulfatase A deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function."
      },
      "child_count": 8,
      "reference_id": "MONDO:0018868"
    },
    {
      "id": 18827,
      "label": "posterior cortical atrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16360,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018846",
          "MEDGEN:909667",
          "Orphanet:54247",
          "SCTID:715574002",
          "UMLS:C4275079",
          "icd11.foundation:377572273"
        ],
        "synonyms": [
          "Benson syndrome",
          "PCA",
          "biparietal Alzheimer disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018899"
    },
    {
      "id": 19840,
      "label": "autosomal dominant cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        16360,
        24046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1441",
          "GARD:0004346",
          "ICD9:334.3",
          "MEDGEN:1684639",
          "NORD:825",
          "OMIMPS:164400",
          "Orphanet:99",
          "SCTID:129609000",
          "UMLS:C4087347"
        ],
        "synonyms": [
          "SCA",
          "spinocerebellar ataxia",
          "ADCA",
          "Autosomal Dominant Hereditary Ataxia",
          "autosomal dominant spinocerebellar ataxia",
          "cerebellar ataxia, autosomal dominant",
          "Pierre Marie cerebellar ataxia (formerly)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy."
      },
      "child_count": 45,
      "reference_id": "MONDO:0020380"
    },
    {
      "id": 23839,
      "label": "familial Alzheimer disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6717,
        16360,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:82914",
          "UMLS:C0276496"
        ],
        "synonyms": [
          "Alzheimer disease, familial",
          "FAD",
          "GARD:0000632"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner."
      },
      "child_count": 6,
      "reference_id": "MONDO:0100087"
    }
  ],
  "roots": [
    {
      "id": 3823,
      "label": "dementia"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}