{
  "id": 11475,
  "label": "creatine transporter deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010305",
  "properties": {
    "xrefs": [
      "DOID:0050800",
      "GARD:0001608",
      "ICD9:758.81",
      "MEDGEN:337451",
      "MESH:C535598",
      "NANDO:1201035",
      "NANDO:2201301",
      "NCIT:C125665",
      "NORD:1966",
      "OMIM:300352",
      "Orphanet:52503",
      "SCTID:698290008",
      "UMLS:C1845862"
    ],
    "synonyms": [
      "SLC6A8 deficiency",
      "cerebral creatine deficiency syndrome 1",
      "cerebral creatine deficiency syndrome 1, X-linked recessive",
      "cerebral creatine deficiency syndrome type 1",
      "creatine transporter deficiency",
      "CCDS1",
      "X-linked creatine deficiency",
      "X-linked creatine deficiency syndrome",
      "X-linked creatine transporter deficiency",
      "creatine deficiency syndrome, X-linked",
      "creatine deficiency, X-linked",
      "creatine transporter defect",
      "intellectual disability, X-linked with seizures, short stature and midface hypoplasia",
      "intellectual disability, X-linked, with creatine Transport deficiency",
      "intellectual disability, X-linked, with creatine transport deficiency",
      "intellectual disability, X-linked, with seizures, short stature, and midface hypoplasia",
      "mental retardation, X-linked with seizures, short stature and midface hypoplasia",
      "mental retardation, X-linked, with creatine Transport deficiency",
      "mental retardation, X-linked, with creatine transport deficiency",
      "mental retardation, X-linked, with seizures, short stature, and midface hypoplasia"
    ],
    "definition": "X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2918,
      "label": "cerebral creatine deficiency syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6510,
        19107,
        23517
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050798",
          "GARD:0018952",
          "MEDGEN:1826001",
          "NANDO:1201032",
          "NANDO:2100226",
          "NANDO:2200842",
          "OMIMPS:300352",
          "Orphanet:79172",
          "UMLS:C5244016"
        ],
        "synonyms": [
          "CCDS",
          "CDS",
          "cerebral creatine deficiency syndrome",
          "creatine deficiency syndrome"
        ],
        "definition": "Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency."
      },
      "child_count": 9,
      "reference_id": "MONDO:0000456"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019900",
          "MEDGEN:1826093",
          "Orphanet:139009",
          "UMLS:C5680623"
        ]
      },
      "child_count": 114,
      "reference_id": "MONDO:0015327"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2918,
      "label": "cerebral creatine deficiency syndrome"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    }
  ]
}