{
  "id": 18854,
  "label": "mucolipidosis type III, alpha/beta",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018931",
  "properties": {
    "xrefs": [
      "DOID:0080071",
      "GARD:0017704",
      "MEDGEN:10988",
      "NANDO:1200125",
      "NANDO:2200568",
      "NORD:1624",
      "OMIM:252600",
      "Orphanet:423461",
      "Orphanet:577",
      "SCTID:65764006",
      "UMLS:C0033788"
    ],
    "synonyms": [
      "ML 3",
      "ML3",
      "mucolipidosis 3",
      "mucolipidosis III",
      "ML 3 alpha/beta",
      "ML III alpha/beta",
      "MLIII",
      "Pseudo Hurler Polydystrophy",
      "mucolipidosis type 3 alpha/beta",
      "mucolipidosis type III",
      "pseudo-Hurler polydystrophy",
      "ML 3 A",
      "ML 3 Alpha/Beta",
      "mucolipidosis 3 Alpha/Beta",
      "mucolipidosis 3 Alpha/Beta, atypical",
      "mucolipidosis 3A",
      "mucolipidosis III ALPHA/BETA",
      "mucolipidosis type 3A",
      "mucolipidosis type III alpha/beta"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 22243,
      "label": "familial mucolipidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19110
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025699",
          "OMIMPS:256550"
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0031422"
    },
    {
      "id": 23871,
      "label": "GNPTAB-mucolipidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19110
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026054"
        ],
        "synonyms": [
          "GNPTAB-related disorder",
          "UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency"
        ],
        "definition": "An autosomal recessive mucolipidosis disorder caused by bi-allelic variants in the GNPTAB gene. Symptoms of this condition occur across a clinical spectrum including mucolipidosis type II (ML II) and mucolipidosis type III alpha/beta (ML IIIα/β), and phenotypes intermediate between ML II and ML IIIα/β."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100122"
    },
    {
      "id": 24806,
      "label": "lysosomal storage disease with skeletal involvement",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019203",
          "ICD9:756.9",
          "Orphanet:93448",
          "SCTID:254069004",
          "SCTID:279081001"
        ],
        "synonyms": [
          "dysostosis multiplex"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 25,
      "reference_id": "MONDO:0800088"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 22243,
      "label": "familial mucolipidosis"
    },
    {
      "id": 23871,
      "label": "GNPTAB-mucolipidosis"
    },
    {
      "id": 24806,
      "label": "lysosomal storage disease with skeletal involvement"
    }
  ]
}