{
  "id": 18294,
  "label": "GM1 gangliosidosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018149",
  "properties": {
    "xrefs": [
      "DOID:3322",
      "GARD:0010891",
      "ICD9:277.6",
      "MEDGEN:43107",
      "MESH:D016537",
      "NANDO:1200066",
      "NANDO:2200558",
      "NCIT:C84739",
      "Orphanet:354",
      "SCTID:124465002",
      "SCTID:238025006",
      "UMLS:C0085131",
      "icd11.foundation:401105928"
    ],
    "synonyms": [
      "Beta-galactosidase-1 deficiency",
      "GLB1 deficiency",
      "GM>1< gangliosidosis",
      "Landing disease",
      "Landing syndrome",
      "gangliosidosis GM1",
      "Beta galactosidase 1 deficiency",
      "Beta-galactosidosis",
      "GLB 1 deficiency"
    ],
    "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 rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 7061,
      "label": "bone disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6893
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080001",
          "EFO:0004260",
          "ICD10CM:M80-M85",
          "ICD9:731.8",
          "ICD9:733.99",
          "MEDGEN:14182",
          "MESH:D001847",
          "NANDO:2100291",
          "NANDO:2100293",
          "SCTID:76069003",
          "UMLS:C0005940"
        ],
        "synonyms": [
          "bone element disease",
          "bone element disease or disorder",
          "disease of bone element",
          "disease or disorder of bone element",
          "disorder of bone element",
          "rare bone disease related to a common gene or pathway defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Diseases of bones."
      },
      "child_count": 27,
      "reference_id": "MONDO:0005381"
    },
    {
      "id": 17952,
      "label": "gangliosidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19116
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2368",
          "GARD:0012510",
          "MEDGEN:42149",
          "Orphanet:309144",
          "SCTID:50967008",
          "UMLS:C0017083",
          "icd11.foundation:797306953"
        ],
        "definition": "A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway."
      },
      "child_count": 2,
      "reference_id": "MONDO:0017719"
    }
  ],
  "children": [
    {
      "id": 10501,
      "label": "GM1 gangliosidosis type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16607,
        18294,
        24806
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080502",
          "GARD:0006479",
          "MEDGEN:75665",
          "NANDO:1200067",
          "NANDO:2201196",
          "OMIM:230500",
          "Orphanet:79255",
          "SCTID:238026007",
          "UMLS:C0268271",
          "icd11.foundation:466200180"
        ],
        "synonyms": [
          "Norman-Landing disease",
          "infantile GM1 gangliosidosis",
          "Beta galactosidase deficiency type 1",
          "Beta-galactosidase-1 deficiency",
          "GLB deficiency type 1",
          "GM1-gangliosidosis, type 1",
          "GM1-gangliosidosis, type I",
          "GM1-gangliosidosis, type I, with Cardiac involvement",
          "Glb1 deficiency",
          "gangliosidosis generalised GM1 infantile form",
          "gangliosidosis generalised GM1 type 1",
          "gangliosidosis generalized GM1 infantile form",
          "gangliosidosis generalized GM1 type 1",
          "gangliosidosis, generalised GM1, infantile form",
          "gangliosidosis, generalised GM1, type 1",
          "gangliosidosis, generalised GM1, type I, with Cardiac involvement",
          "gangliosidosis, generalized GM1, infantile form",
          "gangliosidosis, generalized GM1, type 1",
          "gangliosidosis, generalized GM1, type I, with Cardiac involvement"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009260"
    },
    {
      "id": 10502,
      "label": "GM1 gangliosidosis type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18294
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080501",
          "GARD:0010126",
          "MEDGEN:120625",
          "NANDO:1200068",
          "NANDO:2201197",
          "OMIM:230600",
          "Orphanet:79256",
          "SCTID:18756002",
          "UMLS:C0268272",
          "icd11.foundation:1132250614"
        ],
        "synonyms": [
          "juvenile GM1 gangliosidosis",
          "late-infantile GM1 gangliosidosis",
          "GM1-gangliosidosis, type 2",
          "GM1-gangliosidosis, type II",
          "gangliosidosis generalised GM1 juvenile type",
          "gangliosidosis generalised GM1 type 2",
          "gangliosidosis generalized GM1 juvenile type",
          "gangliosidosis generalized GM1 type 2",
          "gangliosidosis, generalised GM1, juvenile type",
          "gangliosidosis, generalised GM1, late-infantile type",
          "gangliosidosis, generalised GM1, type 2",
          "gangliosidosis, generalized GM1, juvenile type",
          "gangliosidosis, generalized GM1, late-infantile type",
          "gangliosidosis, generalized GM1, type 2"
        ],
        "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": "GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009261"
    },
    {
      "id": 10503,
      "label": "GM1 gangliosidosis type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18294
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080489",
          "GARD:0002431",
          "MEDGEN:78655",
          "NANDO:1200069",
          "NANDO:2201198",
          "OMIM:230650",
          "Orphanet:79257",
          "SCTID:238027003",
          "UMLS:C0268273",
          "icd11.foundation:1331496842"
        ],
        "synonyms": [
          "adult-onset GM1 gangliosidosis",
          "Beta-galactosidase deficiency type 3",
          "GM1-gangliosidosis, type 3",
          "GM1-gangliosidosis, type III",
          "adult GM1 gangliosidosis",
          "gangliosidosis GM1 type 3",
          "gangliosidosis generalised GM1 chronic type",
          "gangliosidosis generalized GM1 chronic type",
          "gangliosidosis, generalised GM1, adult type",
          "gangliosidosis, generalised GM1, chronic type",
          "gangliosidosis, generalised GM1, type 3",
          "gangliosidosis, generalized GM1, adult type",
          "gangliosidosis, generalized GM1, chronic type",
          "gangliosidosis, generalized GM1, type 3"
        ],
        "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": "GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009262"
    }
  ],
  "roots": [
    {
      "id": 7019,
      "label": "eye disorder"
    },
    {
      "id": 7061,
      "label": "bone disorder"
    },
    {
      "id": 17952,
      "label": "gangliosidosis"
    }
  ]
}