{
  "id": 17499,
  "label": "oromandibular-limb hypogenesis syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017139",
  "properties": {
    "xrefs": [
      "GARD:0004116",
      "MEDGEN:1843329",
      "Orphanet:2749",
      "UMLS:C5679764",
      "icd11.foundation:1665391511"
    ],
    "synonyms": [
      "Oroacral syndrome",
      "oro-mandibular-limb hypogenesis syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 16328,
      "label": "oromandibular-limb anomalies syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        18362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019996",
          "MEDGEN:1842880",
          "Orphanet:156215",
          "UMLS:C5680663",
          "icd11.foundation:1868700139"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0015498"
    }
  ],
  "children": [
    {
      "id": 8488,
      "label": "Hypoglossia-hypodactyly syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16088,
        17499,
        18956,
        19479
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000068",
          "ICD9:759.89",
          "MEDGEN:354928",
          "NORD:1215",
          "OMIM:103300",
          "Orphanet:989",
          "SCTID:35031005",
          "UMLS:C1863203"
        ],
        "synonyms": [
          "Hanhart Syndrome",
          "Hanhart syndrome",
          "Jussieu syndrome",
          "aglossia-adactylia syndrome",
          "Hypoglossia-hypodactylia",
          "Hypoglossia-hypodactylia syndrome",
          "aglossia adactylia",
          "aglossia-adactylia",
          "oromandibular limb hypoplasia",
          "peromelia with micrognathia",
          "peromelia with micrognathism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007073"
    },
    {
      "id": 14042,
      "label": "isolated congenital hypoglossia/aglossia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3409,
        17499
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016972",
          "MEDGEN:411249",
          "OMIM:612776",
          "Orphanet:141152",
          "UMLS:C2748587"
        ],
        "synonyms": [
          "hypoglossia with situs inversus",
          "hypoglossia, isolated"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0006858",
            "name": "mouth disorder"
          }
        ],
        "definition": "Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS)."
      },
      "child_count": 4,
      "reference_id": "MONDO:0013003"
    },
    {
      "id": 16224,
      "label": "Charlie M syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16089,
        17499
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001261",
          "MEDGEN:1379887",
          "Orphanet:1406",
          "SCTID:733034007",
          "UMLS:C4518555",
          "icd11.foundation:1284734481"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015367"
    },
    {
      "id": 16251,
      "label": "glossopalatine ankylosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17499
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019954",
          "MEDGEN:929238",
          "Orphanet:141163",
          "SCTID:717814004",
          "UMLS:C4303569",
          "icd11.foundation:1608847387"
        ],
        "synonyms": [
          "Cosack syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterized by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015399"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16328,
      "label": "oromandibular-limb anomalies syndrome"
    }
  ]
}