{
  "id": 16201,
  "label": "syndromic craniosynostosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015338",
  "properties": {
    "xrefs": [
      "GARD:0019911",
      "MEDGEN:1842203",
      "Orphanet:139393",
      "UMLS:C5680624"
    ],
    "synonyms": [
      "syndrome associated with craniosynostosis",
      "syndromic craniosynostosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A craniosynostosis that is part of a larger syndrome."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 40,
  "parents": [
    {
      "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"
    },
    {
      "id": 16310,
      "label": "craniosynostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3632,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2340",
          "GARD:0006209",
          "ICD10CM:Q75.0",
          "MEDGEN:1163",
          "MESH:D003398",
          "MedDRA:10048907",
          "MedDRA:10049889",
          "NANDO:2100227",
          "NCIT:C84655",
          "OMIMPS:123100",
          "Orphanet:1531",
          "UMLS:C0010278",
          "icd11.foundation:458033798"
        ],
        "synonyms": [
          "craniosynostosis syndrome",
          "premature closure of cranial sutures",
          "CSO"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015469"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:98053",
          "Orphanet:364526",
          "UMLS:C0410528"
        ],
        "synonyms": [
          "Mendelian skeletal dysplasia",
          "primary bone dysplasia",
          "primary osteodysplasia",
          "primary skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any Mendelian diseases that affects growth and development of the skeleton."
      },
      "child_count": 238,
      "reference_id": "MONDO:0018230"
    }
  ],
  "children": [
    {
      "id": 8796,
      "label": "Crouzon syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2339",
          "GARD:0006206",
          "MEDGEN:1162",
          "MESH:D003394",
          "NANDO:1200666",
          "NANDO:2200845",
          "NCIT:C84653",
          "NORD:1018",
          "OMIM:123500",
          "Orphanet:207",
          "SCTID:28861008",
          "UMLS:C0010273",
          "icd11.foundation:1535725821"
        ],
        "synonyms": [
          "Crouzon craniofacial dysostosis",
          "Crouzon syndrome",
          "craniofacial dysostosis",
          "Cfd1",
          "Crouzon disease",
          "craniofacial dysostosis type 1",
          "craniofacial dysostosis, type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia."
      },
      "child_count": 2,
      "reference_id": "MONDO:0007405"
    },
    {
      "id": 8803,
      "label": "Beare-Stevenson cutis gyrata syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        16089,
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050660",
          "GARD:0000332",
          "ICD9:759.89",
          "MEDGEN:377668",
          "MESH:C565129",
          "NCIT:C123813",
          "OMIM:123790",
          "Orphanet:1555",
          "SCTID:703528008",
          "UMLS:C1852406",
          "icd11.foundation:947865461"
        ],
        "synonyms": [
          "Beare-Stevenson cutis gyrata syndrome",
          "BSTVS",
          "Beare Stevenson syndrome",
          "Beare-Stevenson syndrome",
          "cutis gyrata - acanthosis nigricans - craniosynostosis",
          "cutis gyrata syndrome of Beare and Stevenson",
          "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007412"
    },
    {
      "id": 9721,
      "label": "Shprintzen-Goldberg syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16087,
        16201,
        17630
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004861",
          "MEDGEN:231160",
          "NCIT:C124840",
          "NORD:1908",
          "OMIM:182212",
          "Orphanet:2462",
          "SCTID:719069008",
          "UMLS:C1321551"
        ],
        "synonyms": [
          "Marfanoid craniosynostosis syndrome",
          "SGS",
          "Shprintzen Goldberg Syndrome",
          "Shprintzen-Goldberg syndrome",
          "Marfanoid disorder with craniosynostosis type 1",
          "Marfanoid disorder with craniosynostosis, type 1",
          "Marfanoid-craniosynostosis syndrome",
          "Shprintzen-Goldberg craniosynostosis syndrome",
          "Shprintzen-Goldberg marfanoid syndrome",
          "craniosynostosis with arachnodactyly and abdominal hernias"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008426"
    },
    {
      "id": 9982,
      "label": "acrocephalopolydactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002096",
          "MEDGEN:501209",
          "MESH:C573722",
          "OMIM:200995",
          "Orphanet:221054",
          "SCTID:720417003",
          "UMLS:C3495588",
          "icd11.foundation:1177551296"
        ],
        "synonyms": [
          "Elejalde syndrome",
          "acrocephalopolydactylous dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008709"
    },
    {
      "id": 10074,
      "label": "Antley-Bixler syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        12769,
        16088,
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050462",
          "DOID:0081289",
          "GARD:0005826",
          "MEDGEN:1714404",
          "NANDO:1200669",
          "NANDO:2200975",
          "NORD:792",
          "Orphanet:83",
          "SCTID:62964007",
          "UMLS:C5234850",
          "icd11.foundation:2027710139"
        ],
        "synonyms": [
          "Antley Bixler syndrome",
          "multisynostotic osteodysgenesis with long bone fractures",
          "osteodysgenesis, multisynostotic with fractures",
          "osteodysgenesis, multisynostotic, with fractures",
          "trapezoidocephaly synostosis syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures."
      },
      "child_count": 6,
      "reference_id": "MONDO:0008803"
    },
    {
      "id": 10158,
      "label": "C syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16087,
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111581",
          "GARD:0005978",
          "MEDGEN:167105",
          "MESH:C537418",
          "NORD:882",
          "OMIM:211750",
          "Orphanet:1308",
          "SCTID:715409005",
          "UMLS:C0796095",
          "icd11.foundation:1482041278"
        ],
        "synonyms": [
          "C syndrome",
          "OTCS",
          "Opitz C trigonocephaly",
          "Opitz trigonocephaly C syndrome",
          "Opitz trigonocephaly syndrome",
          "trigonocephaly C syndrome",
          "trigonocephaly syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008893"
    },
    {
      "id": 10283,
      "label": "cranioectodermal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        12769,
        16201,
        16302,
        16626,
        19138
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050577",
          "GARD:0000359",
          "ICD9:756.9",
          "MEDGEN:1641011",
          "NCIT:C129305",
          "OMIMPS:218330",
          "Orphanet:1515",
          "SCTID:254093009",
          "UMLS:C4551571",
          "icd11.foundation:1588881145"
        ],
        "synonyms": [
          "CED",
          "Sensenbrenner syndrome",
          "cranioectodermal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)."
      },
      "child_count": 35,
      "reference_id": "MONDO:0009032"
    },
    {
      "id": 10287,
      "label": "cardiocranial syndrome, Pfeiffer type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16087,
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008586",
          "MEDGEN:346598",
          "MESH:C535578",
          "OMIM:218450",
          "Orphanet:2872",
          "SCTID:720606005",
          "UMLS:C1857495",
          "icd11.foundation:629231429"
        ],
        "synonyms": [
          "Pfeiffer-Singer-Zschiesche syndrome",
          "craniosynostosis-congenital heart disease-intellectual disability syndrome",
          "sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis",
          "Cardiocranial syndrome",
          "Pfeiffer Cardiocranial syndrome",
          "Pfeiffer Singer Zschiesche syndrome",
          "Pfeiffer-type cardiocranial syndrome",
          "craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009036"
    },
    {
      "id": 10289,
      "label": "craniosynostosis-fibular aplasia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024646",
          "MEDGEN:347468",
          "MESH:C565665",
          "OMIM:218550",
          "Orphanet:1533",
          "SCTID:732250002",
          "UMLS:C1857492"
        ],
        "synonyms": [
          "Lowry syndrome",
          "craniosynostosis with fibular aplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009038"
    },
    {
      "id": 10290,
      "label": "Baller-Gerold syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050654",
          "GARD:0001602",
          "MEDGEN:120532",
          "MESH:C536788",
          "NANDO:1201059",
          "NORD:834",
          "OMIM:218600",
          "Orphanet:1225",
          "SCTID:77608001",
          "UMLS:C0265308",
          "icd11.foundation:1650688177"
        ],
        "synonyms": [
          "Baller-Gerold syndrome",
          "BALLER-Gerold syndrome",
          "BGS",
          "craniosynostosis with radial defects",
          "craniosynostosis-radial aplasia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009039"
    },
    {
      "id": 10293,
      "label": "craniotelencephalic dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201,
        18774
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001605",
          "MEDGEN:347462",
          "MESH:C535597",
          "OMIM:218670",
          "Orphanet:1528",
          "SCTID:715422002",
          "UMLS:C1857471",
          "icd11.foundation:1684038717"
        ],
        "synonyms": [
          "craniotelencephalic dysplasia",
          "Complex of anomalies involving the cranium and brain"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009042"
    },
    {
      "id": 11277,
      "label": "Summitt syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000127",
          "MEDGEN:369198",
          "MESH:C538142",
          "NORD:1746",
          "OMIM:272350",
          "Orphanet:3210",
          "SCTID:733606001",
          "UMLS:C1802405"
        ],
        "synonyms": [
          "Summitt syndrome",
          "Summitt's acrocephalosyndactyly",
          "recessive acrocephalosyndactyly with normal intelligence"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010090"
    },
    {
      "id": 11414,
      "label": "X-linked intellectual disability-plagiocephaly syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16087,
        16201,
        19742
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002765",
          "MEDGEN:419824",
          "MESH:C537512",
          "OMIM:300064",
          "Orphanet:2898",
          "SCTID:719812008",
          "UMLS:C2931516"
        ],
        "synonyms": [
          "Hyde Forster-McCarthy-Berry syndrome",
          "Hyde Forster McCarthy Berry syndrome",
          "intellectual disability, X-linked Hyde-Forster type",
          "intellectual disability, X-linked, Hyde-Forster type",
          "intellectual disability, X-linked, with craniofacial dysmorphism",
          "intellectual disability, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features",
          "mental retardation, X-linked Hyde-Forster type",
          "mental retardation, X-linked, Hyde-Forster type",
          "mental retardation, X-linked, with craniofacial dysmorphism",
          "mental retardation, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features",
          "plagiocephaly and X-linked intellectual disability",
          "plagiocephaly and X-linked mental retardation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked intellectual disability-plagiocephaly syndrome is characterized by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010237"
    },
    {
      "id": 11986,
      "label": "Lowry-MacLean syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7019,
        16087,
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003300",
          "MEDGEN:167095",
          "MESH:C537037",
          "OMIM:600252",
          "Orphanet:2409",
          "SCTID:721974000",
          "UMLS:C0796020",
          "icd11.foundation:698387769"
        ],
        "synonyms": [
          "Lowry-MacLean syndrome",
          "Lowry MacLean syndrome",
          "intellectual disability, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure",
          "mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure"
        ],
        "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": "Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010851"
    },
    {
      "id": 11999,
      "label": "pseudoaminopterin syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16087,
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004544",
          "MEDGEN:163196",
          "MESH:C535823",
          "OMIM:600325",
          "Orphanet:221120",
          "SCTID:715867000",
          "UMLS:C0795939",
          "icd11.foundation:893045173"
        ],
        "synonyms": [
          "ASSA",
          "aminopterin syndrome-like sine aminopterin",
          "pseudoaminopterin syndrome",
          "aminopterin syndrome sine aminopterin"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010865"
    },
    {
      "id": 12062,
      "label": "craniosynostosis 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061012",
          "GARD:0024762",
          "MEDGEN:813247",
          "OMIM:600775",
          "UMLS:C3806917"
        ],
        "synonyms": [
          "ERF craniosynostosis",
          "ERF-related craniosynostosis",
          "craniosynostosis 4",
          "craniosynostosis caused by mutation in ERF",
          "craniosynostosis type 4",
          "CRS4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010929"
    },
    {
      "id": 12185,
      "label": "holoprosencephaly-craniosynostosis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002454",
          "MEDGEN:330464",
          "MESH:C537684",
          "OMIM:601370",
          "Orphanet:2163",
          "SCTID:715434005",
          "UMLS:C1832424"
        ],
        "synonyms": [
          "Camero-Lituania-Cohen syndrome",
          "Genoa syndrome",
          "Semilobar holoprosencephaly and primary craniosynostosis",
          "camera Lituania Cohen syndrome",
          "holoprosencephaly craniosynostosis",
          "holoprosencephaly, SEMILOBAR, with craniosynostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011059"
    },
    {
      "id": 12191,
      "label": "Hunter-McAlpine craniosynostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002754",
          "MEDGEN:321949",
          "MESH:C536072",
          "OMIM:601379",
          "Orphanet:97340",
          "SCTID:721227001",
          "UMLS:C1832408",
          "icd11.foundation:1445975694"
        ],
        "synonyms": [
          "Hunter-McAlpine craniosynostosis syndrome",
          "Hunter-McAlpine syndrome",
          "craniosynostosis, mental deficiency, almond-shaped palpebral fissures, downturned mouth, mild acral-skeletal anomalies, and short stature"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Hunter-McAlpine craniosynostosis is characterized by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011065"
    },
    {
      "id": 12257,
      "label": "Curry-Jones syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201,
        29224
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005584",
          "MEDGEN:167083",
          "MESH:C536735",
          "OMIM:601707",
          "Orphanet:1553",
          "SCTID:720819006",
          "UMLS:C0795915"
        ],
        "synonyms": [
          "Curry-Jones syndrome, somatic mosaic",
          "corpus callosum agenesis-polysyndactyly syndrome",
          "curry-Jones syndrome",
          "CRJS",
          "corpus callosum agenesis polysyndactyly",
          "craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development",
          "curry Jones syndrome",
          "curry-JONES syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011134"
    },
    {
      "id": 12373,
      "label": "craniomicromelic syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001583",
          "MEDGEN:355396",
          "MESH:C566522",
          "OMIM:602558",
          "Orphanet:1524",
          "SCTID:725098001",
          "UMLS:C1865184",
          "icd11.foundation:1734157428"
        ],
        "synonyms": [
          "craniomicromelic syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011253"
    },
    {
      "id": 12394,
      "label": "Muenke syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060703",
          "GARD:0007097",
          "MEDGEN:355217",
          "MESH:C537369",
          "NCIT:C84904",
          "OMIM:602849",
          "Orphanet:1535",
          "Orphanet:53271",
          "SCTID:440350001",
          "SCTID:720814001",
          "UMLS:C1864436",
          "icd11.foundation:1860572017"
        ],
        "synonyms": [
          "FGFR3-related craniosynostosis",
          "MNKES",
          "Muenke syndrome",
          "craniosynostosis - dysmorphism - brachydactyly",
          "craniosynostosis brachydactyly",
          "craniosynostosis with facial dysmorphism and brachydactyly syndrome",
          "craniosynostosis-dysmorphism-brachydactyly syndrome",
          "glass-chapman-hockley syndrome",
          "syndrome of coronal craniosynostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011274"
    },
    {
      "id": 12405,
      "label": "craniosynostosis-anal anomalies-porokeratosis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009506",
          "MEDGEN:351066",
          "MESH:C536789",
          "OMIM:603116",
          "Orphanet:85199",
          "SCTID:720812002",
          "UMLS:C1864186"
        ],
        "synonyms": [
          "CAP syndrome",
          "CDAGS syndrome",
          "craniosynostosis and clavicular hypoplasia, delayed closure of the fontanel, anal anomalies and genitourinary malformations",
          "craniosynostosis, anal anomalies, and porokeratosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011287"
    },
    {
      "id": 12583,
      "label": "craniosynostosis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061009",
          "GARD:0005538",
          "MEDGEN:346753",
          "OMIM:604757",
          "Orphanet:1541",
          "SCTID:720817008",
          "UMLS:C1858160"
        ],
        "synonyms": [
          "CRS2",
          "MSX2-related craniosynostosis",
          "Warman-Mulliken-Hayward syndrome",
          "craniosynostosis 2",
          "craniosynostosis type 2",
          "craniosynostosis, Warman type",
          "Warman Mulliken Hayward syndrome",
          "craniosynostosis Warman type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011481"
    },
    {
      "id": 12872,
      "label": "cloverleaf skull-multiple congenital anomalies syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016811",
          "MEDGEN:375942",
          "MESH:C564611",
          "OMIM:607161",
          "Orphanet:93267",
          "SCTID:717771007",
          "UMLS:C1846671"
        ],
        "synonyms": [
          "multiple congenital anomalies syndrome with cloverleaf skull"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011788"
    },
    {
      "id": 13103,
      "label": "craniosynostosis-intracranial calcifications syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016653",
          "MEDGEN:333981",
          "MESH:C564241",
          "OMIM:608432",
          "Orphanet:52054",
          "SCTID:720816004",
          "UMLS:C1842058"
        ],
        "synonyms": [
          "Longman-Tolmie syndrome",
          "craniosynostosis, calcification of basal ganglia, and facial dysmorphism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012035"
    },
    {
      "id": 13873,
      "label": "Crouzon syndrome-acanthosis nigricans syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111161",
          "GARD:0016810",
          "MEDGEN:394201",
          "MESH:C567382",
          "NCIT:C38145",
          "OMIM:612247",
          "Orphanet:93262",
          "SCTID:702361006",
          "UMLS:C2677099"
        ],
        "synonyms": [
          "CAN",
          "Chronic kidney allograft nephropathy",
          "Crouzon-dermoskeletal syndrome",
          "Crouzonodermoskeletal syndrome",
          "chronic allograft nephropathy",
          "Crouzon syndrome with acanthosis nigricans",
          "can"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012833"
    },
    {
      "id": 14641,
      "label": "craniosynostosis and dental anomalies",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017309",
          "MEDGEN:481703",
          "OMIM:614188",
          "Orphanet:284149",
          "UMLS:C3280073"
        ],
        "synonyms": [
          "Kreiborg-Pakistani syndrome",
          "craniosynostosis and dental anomalies",
          "CRSDA",
          "craniosynostosis-dental anomalies"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013615"
    },
    {
      "id": 14759,
      "label": "lethal occipital encephalocele-skeletal dysplasia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017348",
          "MEDGEN:482359",
          "OMIM:614416",
          "Orphanet:293925",
          "UMLS:C3280729"
        ],
        "synonyms": [
          "craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies",
          "RHFCA",
          "radiohumeral fusions with other skeletal and craniofacial anomalies"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013740"
    },
    {
      "id": 15136,
      "label": "TCF12-related craniosynostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061011",
          "GARD:0018047",
          "MEDGEN:811568",
          "OMIM:615314",
          "Orphanet:672979",
          "UMLS:C3715051"
        ],
        "synonyms": [
          "TCF12 craniosynostosis",
          "TCF12-related craniosynostosis",
          "craniosynostosis 3",
          "craniosynostosis caused by mutation in TCF12",
          "craniosynostosis type 3",
          "CRS3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014128"
    },
    {
      "id": 15556,
      "label": "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16087,
        16201,
        24272,
        24323
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070062",
          "GARD:0017797",
          "MEDGEN:903767",
          "NORD:1954",
          "OMIM:616268",
          "Orphanet:457193",
          "UMLS:C4225396"
        ],
        "synonyms": [
          "Arboleda-Tham syndrome",
          "KAT6A Syndrome",
          "MRD32",
          "autosomal dominant intellectual disability 32",
          "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome",
          "intellectual disability, autosomal dominant type 32",
          "mental retardation, autosomal dominant type 32",
          "autosomal dominant non-syndromic intellectual disability 32",
          "intellectual disability, autosomal dominant 32",
          "mental retardation, autosomal dominant 32"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014558"
    },
    {
      "id": 16055,
      "label": "cloverleaf skull-asphyxiating thoracic dysplasia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000853",
          "MEDGEN:1674171",
          "Orphanet:100978",
          "UMLS:C5190852"
        ],
        "synonyms": [
          "Benallegue-Lacete syndrome",
          "Benallegue Lacete syndrome",
          "cloverleaf skull and asphyxiating thoracic dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015086"
    },
    {
      "id": 16308,
      "label": "craniosynostosis, Philadelphia type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001601",
          "MEDGEN:321988",
          "MESH:C563368",
          "Orphanet:1527",
          "SCTID:720818003",
          "UMLS:C1832590",
          "icd11.foundation:234032200"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015467"
    },
    {
      "id": 16309,
      "label": "craniosynostosis-cataract syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:1530"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015468"
    },
    {
      "id": 16468,
      "label": "familial scaphocephaly syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020113",
          "MEDGEN:797875",
          "MedDRA:10072229",
          "Orphanet:169163",
          "UMLS:C3267076"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0015704"
    },
    {
      "id": 16509,
      "label": "craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020127",
          "MEDGEN:923699",
          "Orphanet:171839",
          "SCTID:720815000",
          "UMLS:C3267187"
        ],
        "synonyms": [
          "Berant syndrome",
          "Capra-DeMarco syndrome",
          "familial scaphocephaly-radioulnar synostosis syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015751"
    },
    {
      "id": 16553,
      "label": "osteosclerosis-developmental delay-craniosynostosis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020147",
          "MEDGEN:928487",
          "Orphanet:178377",
          "SCTID:722117000",
          "UMLS:C4302818"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015800"
    },
    {
      "id": 16847,
      "label": "craniosynostosis, Herrmann-Opitz type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018762",
          "MEDGEN:1633959",
          "Orphanet:2145",
          "UMLS:C4706536",
          "icd11.foundation:2048918601"
        ],
        "synonyms": [
          "Herrmann Opitz craniosynostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016291"
    },
    {
      "id": 18227,
      "label": "trigonocephaly-broad thumbs syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002756",
          "MEDGEN:930637",
          "Orphanet:3365",
          "SCTID:719949001",
          "UMLS:C4304968"
        ],
        "synonyms": [
          "Hunter-Rudd-Hoffmann syndrome",
          "Hunter Rudd Hoffmann syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018064"
    },
    {
      "id": 19539,
      "label": "acrocephalosyndactyly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16201,
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12960",
          "GARD:0025147",
          "ICD9:755.55",
          "MEDGEN:267602",
          "MedDRA:10000590",
          "NCIT:C34348",
          "Orphanet:946",
          "SCTID:268262006",
          "UMLS:C1510455"
        ],
        "synonyms": [
          "ACS",
          "acrocephalosyndactylia",
          "acrocephalosyndactyly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations."
      },
      "child_count": 8,
      "reference_id": "MONDO:0019796"
    },
    {
      "id": 22492,
      "label": "Weiss-Kruszka syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16088,
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027945",
          "MEDGEN:1799530",
          "OMIM:618619",
          "Orphanet:502430",
          "UMLS:C5568107"
        ],
        "synonyms": [
          "WSKA",
          "Weiss-Kruszka syndrome",
          "ZNF462 disorder",
          "metopic ridging-ptosis-facial dysmorphism syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032836"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16310,
      "label": "craniosynostosis"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}