{
  "id": 11521,
  "label": "Allan-Herndon-Dudley syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010354",
  "properties": {
    "xrefs": [
      "DOID:0050631",
      "GARD:0005617",
      "MEDGEN:208645",
      "MESH:C537047",
      "NANDO:1200580",
      "NANDO:2201292",
      "NCIT:C118843",
      "NORD:1415",
      "OMIM:300523",
      "Orphanet:59",
      "SCTID:702327009",
      "UMLS:C0795889",
      "icd11.foundation:56813604"
    ],
    "synonyms": [
      "AHDS",
      "ALLAN-Herndon syndrome",
      "Allan-Herndon-Dudley syndrome",
      "MCT8 deficiency",
      "MCT8-Specific Thyroid Hormone Cell Transporter Deficiency",
      "MCT8-specific thyroid hormone cell Membrane transporter deficiency",
      "X-linked intellectual disability-hypotonia syndrome",
      "monocarboxylate transporter 8 deficiency",
      "ALLAN-Herndon-DUDLEY syndrome",
      "Allan-Herndon syndrome",
      "T3 resisitence",
      "T3 resistance",
      "X-linked intellectual disability with hypotonia",
      "intellectual disability and muscular atrophy",
      "intellectual disability, X-linked, with hypotonia",
      "mental retardation and muscular atrophy",
      "mental retardation, X-linked, with hypotonia",
      "monocarboxylate transporter-8 deficiency",
      "triiodothyronine resistance"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": [],
  "roots": [
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability"
    }
  ]
}