{
  "id": 8488,
  "label": "Hypoglossia-hypodactyly syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007073",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025062",
          "Orphanet:102284"
        ],
        "synonyms": [
          "MCA/variable MR",
          "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"
        ]
      },
      "child_count": 69,
      "reference_id": "MONDO:0015160"
    },
    {
      "id": 17499,
      "label": "oromandibular-limb hypogenesis syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16328
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 8,
      "reference_id": "MONDO:0017139"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:68378"
        ],
        "synonyms": [
          "congenital limb malformation"
        ]
      },
      "child_count": 107,
      "reference_id": "MONDO:0019054"
    },
    {
      "id": 19479,
      "label": "non-syndromic limb reduction defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019210",
          "MEDGEN:1842256",
          "Orphanet:93457",
          "UMLS:C5680277"
        ],
        "synonyms": [
          "non-syndromic limb hypoplasia",
          "nonsyndromic limb reduction defect",
          "isolated limb reduction defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 40,
      "reference_id": "MONDO:0019713"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    },
    {
      "id": 17499,
      "label": "oromandibular-limb hypogenesis syndrome"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation"
    },
    {
      "id": 19479,
      "label": "non-syndromic limb reduction defect"
    }
  ]
}