{
  "id": 24805,
  "label": "severe spondylodysplastic dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800080",
  "properties": {
    "xrefs": [
      "GARD:0026429"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "An instance of spondylodysplastic dysplasia that has a high degree of severity."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 19472,
      "label": "spondylodysplastic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019193",
          "MEDGEN:1843363",
          "Orphanet:93434",
          "UMLS:C4736216",
          "icd11.foundation:329165933"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 9,
      "reference_id": "MONDO:0019694"
    }
  ],
  "children": [
    {
      "id": 9974,
      "label": "achondrogenesis type IA",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19438,
        24805,
        29241
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080054",
          "GARD:0000459",
          "ICD9:756.9",
          "MEDGEN:78546",
          "MESH:C536015",
          "OMIM:200600",
          "Orphanet:93299",
          "SCTID:42725006",
          "UMLS:C0265273"
        ],
        "synonyms": [
          "achondrogenesis, Houston-Harris type",
          "ACG1A",
          "Houston-Harris achondrogenesis",
          "achondrogenesis type 1A",
          "achondrogenesis, type 1A",
          "achondrogenesis, type IA"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008701"
    },
    {
      "id": 10813,
      "label": "spondylometaphyseal dysplasia, Sedaghatian type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17208,
        22996,
        24805
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112298",
          "GARD:0004993",
          "MEDGEN:340816",
          "MESH:C535798",
          "OMIM:250220",
          "Orphanet:93317",
          "UMLS:C1855229",
          "icd11.foundation:975738106"
        ],
        "synonyms": [
          "spondylometaphyseal dysplasia, Sedaghatian type",
          "SMDS",
          "Sedaghatian chondrodysplasia",
          "lethal metaphyseal dysplasia",
          "metaphyseal chondrodysplasia, congenital lethal",
          "spondylometaphyseal dysplasia Sedaghatian type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009593"
    },
    {
      "id": 10995,
      "label": "opsismodysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24805
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004098",
          "MEDGEN:140927",
          "MESH:C537122",
          "OMIM:258480",
          "Orphanet:2746",
          "SCTID:254068007",
          "UMLS:C0432219",
          "icd11.foundation:2147268863"
        ],
        "synonyms": [
          "opsismodysplasia",
          "OPSISMODYSPLASIA",
          "OPSMD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009785"
    },
    {
      "id": 11207,
      "label": "schneckenbecken dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7171,
        21354,
        24805
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050775",
          "GARD:0000169",
          "ICD9:756.9",
          "MEDGEN:98475",
          "MESH:C536637",
          "OMIM:269250",
          "Orphanet:3144",
          "SCTID:254049009",
          "UMLS:C0432194",
          "icd11.foundation:584032448"
        ],
        "synonyms": [
          "SLC35D1-CDG",
          "chondrodysplasia with snail-like pelvis",
          "schneckenbecken dysplasia",
          "SHNKND",
          "chondrodysplasia lethal neonatal with snail like pelvis",
          "chondrodysplasia, lethal neonatal, with snail-like pelvis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010013"
    },
    {
      "id": 14259,
      "label": "autosomal recessive spondylometaphyseal dysplasia, Megarbane type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17208,
        24805
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112304",
          "GARD:0017667",
          "MEDGEN:413221",
          "MESH:C567644",
          "OMIM:613320",
          "Orphanet:401979",
          "UMLS:C2750075"
        ],
        "synonyms": [
          "PAM16 spondylodysplastic dysplasia",
          "spondylodysplastic dysplasia caused by mutation in PAM16",
          "spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type",
          "SMDMDM",
          "autosomal recessive spondylometaphyseal dysplasia, Mégarbané type",
          "chondrodysplasia, Megarbane-Dagher-Melki type",
          "spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013223"
    }
  ],
  "roots": [
    {
      "id": 19472,
      "label": "spondylodysplastic dysplasia"
    }
  ]
}