{
  "id": 2961,
  "label": "syndromic intellectual disability",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000508",
  "properties": {
    "xrefs": [
      "DOID:0050888",
      "MEDGEN:1842178",
      "UMLS:C5680525"
    ],
    "synonyms": [
      "syndrome associated with intellectual disability",
      "syndromic intellectual disability"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A intellectual disability that is part of a larger syndrome."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 17,
  "parents": [
    {
      "id": 3324,
      "label": "intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1059",
          "ICD10CM:F70-F79",
          "ICD9:319",
          "MEDGEN:811461",
          "MESH:D008607",
          "NCIT:C97250",
          "Orphanet:319658",
          "SCTID:91138005",
          "UMLS:C3714756",
          "icd11.foundation:605267007"
        ],
        "synonyms": [
          "intellectual disabilities",
          "intellectual disability"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group."
      },
      "child_count": 10,
      "reference_id": "MONDO:0001071"
    },
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    }
  ],
  "children": [
    {
      "id": 9727,
      "label": "Smith-Magenis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2961,
        3128,
        4427,
        16087,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:8",
          "DOID:0060768",
          "GARD:0008197",
          "ICD9:758.33",
          "MEDGEN:162881",
          "MESH:D058496",
          "NANDO:1200687",
          "NANDO:2200954",
          "NCIT:C75469",
          "NORD:1725",
          "OMIM:182290",
          "Orphanet:819",
          "SCTID:401315004",
          "UMLS:C0795864",
          "icd11.foundation:989025532"
        ],
        "synonyms": [
          "17p11.2 microdeletion syndrome",
          "SMITH-Magenis syndrome",
          "SMS",
          "Smith Magenis Syndrome",
          "Smith-Magenis syndrome",
          "Smith-Magenis syndrome, Isolated cases",
          "chromosome 17P11.2 deletion syndrome",
          "chromosome 17p11.2 deletion syndrome",
          "Smith-Magenis chromosome region",
          "Smith-Magenis syndrome chromosome region"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008434"
    },
    {
      "id": 10805,
      "label": "intellectual disability, Buenos-Aires type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2961,
        4427,
        16087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003485",
          "MEDGEN:167102",
          "MESH:C563095",
          "OMIM:249630",
          "Orphanet:3079",
          "SCTID:725906006",
          "UMLS:C0796080"
        ],
        "synonyms": [
          "Mutchinick syndrome",
          "intellectual deficit Buenos-Aires type",
          "intellectual disability Buenos Aires type",
          "intellectual disability, Buenos Aires type",
          "mental retardation Buenos Aires type",
          "mental retardation, Buenos Aires type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009584"
    },
    {
      "id": 11383,
      "label": "intellectual disability, Wolff type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2961,
        4427,
        16087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003530",
          "MEDGEN:336345",
          "MESH:C537448",
          "OMIM:277990",
          "Orphanet:3080",
          "UMLS:C1848439"
        ],
        "synonyms": [
          "Wolff-Zimmermann syndrome",
          "WOLFF intellectual disability syndrome",
          "WOLFF mental retardation syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010203"
    },
    {
      "id": 11601,
      "label": "CK syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2961,
        20383,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111898",
          "GARD:0017210",
          "MEDGEN:463131",
          "OMIM:300831",
          "Orphanet:251383",
          "UMLS:C3151781"
        ],
        "synonyms": [
          "CK syndrome",
          "CK syndrome, X-linked recessive",
          "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome",
          "intellectual disability, X-linked, with thin body habitus and cortical malformation",
          "mental retardation, X-linked, with thin body habitus and cortical malformation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010441"
    },
    {
      "id": 15360,
      "label": "AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2961,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070055",
          "GARD:0013409",
          "MEDGEN:862856",
          "OMIM:615829",
          "Orphanet:412069",
          "UMLS:C4014419"
        ],
        "synonyms": [
          "AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome",
          "Xia-Gibbs syndrome",
          "autosomal dominant intellectual disability 25",
          "intellectual disability, autosomal dominant 25",
          "mental retardation, autosomal dominant 25"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014358"
    },
    {
      "id": 18015,
      "label": "7p22.1 microduplication syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2961,
        4427,
        16087,
        17360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021367",
          "MEDGEN:1641886",
          "Orphanet:314034",
          "SCTID:764703002",
          "UMLS:C4707093"
        ],
        "synonyms": [
          "dup(7)(p22.1)",
          "trisomy 7p22.1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017792"
    },
    {
      "id": 18128,
      "label": "9p13 microdeletion syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2961,
        9339
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021437",
          "MEDGEN:1635922",
          "Orphanet:324313",
          "SCTID:764725008",
          "UMLS:C4707097"
        ],
        "synonyms": [
          "Del(9)(p13)",
          "monosomy 9p13"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017928"
    },
    {
      "id": 18430,
      "label": "3q27.3 microdeletion syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2961,
        3128,
        4427,
        16087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021633",
          "MEDGEN:1651953",
          "Orphanet:397695",
          "UMLS:C4749427"
        ],
        "synonyms": [
          "Del(3)(q27.3)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018341"
    },
    {
      "id": 18476,
      "label": "9q31.1q31.3 microdeletion syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2961,
        4427,
        16087,
        17327
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021705",
          "MEDGEN:1665719",
          "Orphanet:401923",
          "UMLS:C4750910"
        ],
        "synonyms": [
          "Del(9)(q31.1q31.3)",
          "monosomy 9q31.1q31.3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018428"
    },
    {
      "id": 19058,
      "label": "Rubinstein-Taybi syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        4427,
        16087,
        18362,
        18956,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:7",
          "DOID:1933",
          "GARD:0007593",
          "ICD9:759.89",
          "MEDGEN:48517",
          "MESH:D012415",
          "MedDRA:10039281",
          "NANDO:1200461",
          "NANDO:2200955",
          "NCIT:C75466",
          "NORD:1682",
          "OMIMPS:180849",
          "Orphanet:783",
          "SCTID:45582004",
          "UMLS:C0035934",
          "icd11.foundation:692585833"
        ],
        "synonyms": [
          "Broad thumb-hallux syndrome",
          "Broad thumbs-halluces syndrome",
          "Rubinstein-Taybi Syndrome",
          "RSTS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics."
      },
      "child_count": 18,
      "reference_id": "MONDO:0019188"
    },
    {
      "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"
    },
    {
      "id": 23372,
      "label": "9q33.3q34.11 microdeletion syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2961,
        4427,
        7019,
        16087,
        17327
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022009",
          "MEDGEN:1811810",
          "Orphanet:495818",
          "UMLS:C5680085"
        ],
        "synonyms": [
          "9q33.3-q34.11 microdeletion syndrome",
          "Del(9)(q33.3q34.11)",
          "deletion 9q33.3q34.11",
          "monosomy 9q33.3-q34.11",
          "monosomy 9q33.3q34.11"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0044641"
    },
    {
      "id": 24320,
      "label": "autosomal recessive syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        24319
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of syndromic intellectual disability."
      },
      "child_count": 14,
      "reference_id": "MONDO:0100598"
    },
    {
      "id": 24323,
      "label": "autosomal dominant syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        23914
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of syndromic intellectual disability."
      },
      "child_count": 68,
      "reference_id": "MONDO:0100601"
    },
    {
      "id": 25966,
      "label": "aplasia cutis-enamel dysplasia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2961,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1854704",
          "OMIM:620789",
          "Orphanet:697356",
          "UMLS:C5935608"
        ],
        "synonyms": [
          "Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome",
          "FOSL2-related neurodevelopmental disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0968978"
    },
    {
      "id": 26301,
      "label": "2p25.3 microduplication syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2961,
        17355
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:699850"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979353"
    },
    {
      "id": 29261,
      "label": "dyneinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        19329,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027115"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A spectrum of diseases related to monoallelic variants in DYNC1H1 and characterized by variable neuromuscular and/or neurodevelopmental presentations. While not absolute, there appear to be genotype-phenotype correlations based on the location of the variant. Patients with variants in the stem domain of DYNC1H1 have been reported with a predominantly neuromuscular presentation, including congenital myopathy, spinal muscular atrophy, Charcot-Marie-Tooth (CMT), and less frequently, intellectual disability and autism. Patients with variants in the motor domain predominantly present with neurodevelopmental presentations including intellectual disability, seizures, malformations of cortical development (abnormal brain MRI findings such as pachygyria, heterotopias, enlarged ventricles, hypoplasia of CC, brain stem, cerebellum), autism, and less frequently, neuromuscular phenotypes."
      },
      "child_count": 6,
      "reference_id": "MONDO:1040031"
    }
  ],
  "roots": [
    {
      "id": 3324,
      "label": "intellectual disability"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    }
  ]
}