{
  "id": 23888,
  "label": "ATP6AP2-related disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100146",
  "properties": {
    "xrefs": [
      "GARD:0026062"
    ],
    "synonyms": [
      "ATP6AP2-related disorder"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked Parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        24021
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060309",
          "OMIMPS:309510",
          "Orphanet:98464"
        ],
        "synonyms": [
          "X-linked syndromic intellectual disability",
          "intellectual disability, X-linked syndromic",
          "mental retardation, X-linked syndromic",
          "syndromic X-linked intellectual disability",
          "syndromic intellectual disability, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A syndromic intellectual disability with an X-linked mode of inheritance."
      },
      "child_count": 162,
      "reference_id": "MONDO:0020119"
    }
  ],
  "children": [
    {
      "id": 11489,
      "label": "syndromic X-linked intellectual disability Hedera type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16759,
        23888
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060806",
          "GARD:0016834",
          "MEDGEN:337257",
          "MESH:C564516",
          "OMIM:300423",
          "Orphanet:93952",
          "UMLS:C1845543"
        ],
        "synonyms": [
          "MRXE",
          "MRXSH",
          "X-linked intellectual disability with epilepsy",
          "intellectual developmental disorder, X-linked, syndromic, Hedera type, X-linked recessive",
          "intellectual disability, X-linked, syndromic, Hedera type",
          "mental retardation, X-linked, syndromic, Hedera type",
          "X-linked intellectual disability, Hedera type",
          "intellectual disability, X-linked, with epilepsy",
          "mental retardation, X-linked, with epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010319"
    },
    {
      "id": 11640,
      "label": "X-linked parkinsonism-spasticity syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20335,
        23888
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112105",
          "GARD:0017567",
          "MEDGEN:813052",
          "OMIM:300911",
          "Orphanet:363654",
          "UMLS:C3806722"
        ],
        "synonyms": [
          "Parkinsonism with spasticity, X-linked, X-linked recessive",
          "XPDS",
          "PARKINSONISM with spasticity, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010482"
    }
  ],
  "roots": [
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability"
    }
  ]
}