{
  "id": 24807,
  "label": "abnormal mineralization disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800096",
  "properties": {
    "xrefs": [
      "GARD:0026430"
    ],
    "synonyms": [
      "disorder of bone mineralization",
      "osteomalacia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A skeletal dysplasia where osteoid becomes calcified."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 18,
  "parents": [
    {
      "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": 8717,
      "label": "chondrocalcinosis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3545,
        7203,
        18954,
        21247,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001292",
          "MEDGEN:163633",
          "MESH:C563162",
          "NORD:930",
          "OMIM:118600",
          "Orphanet:1416",
          "UMLS:C0856830"
        ],
        "synonyms": [
          "Familial Calcium Pyrophosphate Deposition Disease",
          "calcium pyrophosphate dihydrate crystal deposition disease",
          "chondrocalcinosis 2",
          "chondrocalcinosis type 2",
          "familial CC",
          "familial CPPD",
          "familial articular chondrocalcinosis",
          "familial calcium pyrophosphate deposition",
          "familial calcium pyrophosphate dihydrate deposition disease",
          "hereditary CC",
          "hereditary articular chondrocalcinosis",
          "hereditary calcium pyrophosphate deposition",
          "CCAL2",
          "CPPDD",
          "Pseudogout, familial",
          "calcium gout",
          "calcium gout, familial",
          "calcium pyrophosphate arthropathy",
          "calcium pyrophosphate arthropathy, familial",
          "calcium pyrophosphate dihydrate deposition disease",
          "chondrocalcinosis familial articular",
          "chondrocalcinosis, familial articular"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007319"
    },
    {
      "id": 9116,
      "label": "hyperparathyroidism 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16003,
        18958,
        21247,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018253",
          "MEDGEN:333554",
          "MESH:C564166",
          "OMIM:145000",
          "UMLS:C1840402"
        ],
        "synonyms": [
          "hyperparathyroidism 1",
          "hyperparathyroidism type 1",
          "hyperparathyroidism, familial primary",
          "HRPT1",
          "hyperparathyroidism, familial isolated primary",
          "parathyroid adenoma, familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007767"
    },
    {
      "id": 9117,
      "label": "hyperparathyroidism 2 with jaw tumors",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16218,
        16897,
        18958,
        21247,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010829",
          "MEDGEN:310065",
          "NCIT:C48287",
          "OMIM:145001",
          "Orphanet:99880",
          "SCTID:702378002",
          "UMLS:C1704981"
        ],
        "synonyms": [
          "HPT-JT",
          "hyperparathyroidism 2 with jaw tumors",
          "hyperparathyroidism type 2",
          "hyperparathyroidism-2",
          "hyperparathyroidism-jaw tumor syndrome",
          "hyperparathyroidism-jaw tumour syndrome",
          "parathyroid adenoma with cystic changes",
          "HRPT2",
          "familial primary hyperparathyroidism with multiple ossifying jaw fibromas",
          "hereditary hyperparathyroidism-jaw tumor syndrome",
          "hereditary hyperparathyroidism-jaw tumour syndrome",
          "hyperparathyroidism 2",
          "hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas",
          "hyperparathyroidism-jaw tumor syndrome, hereditary",
          "hyperparathyroidism-jaw tumour syndrome, hereditary",
          "parathyroid adenomatosis, familial cystic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007768"
    },
    {
      "id": 9136,
      "label": "familial hypocalciuric hypercalcemia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18499,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060700",
          "GARD:0002796",
          "MEDGEN:137973",
          "MESH:C537145",
          "MedDRA:10068704",
          "OMIM:145980",
          "Orphanet:93372",
          "SCTID:704166007",
          "UMLS:C0342637"
        ],
        "synonyms": [
          "CASR familial hypocalciuric hypercalcemia",
          "FHH type 1",
          "HHC1",
          "familial benign hypercalcemia 1",
          "familial hypocalciuric hypercalcemia caused by mutation in CASR",
          "familial hypocalciuric hypercalcemia type 1",
          "hpocalciuric hypercalcemia, type I",
          "FBH1",
          "Fhh1",
          "familial benign hypercalcemia type 1",
          "hypercalcemia, familial benign",
          "hypercalcemia, familial benign type 1",
          "hypocalciuric hypercalcemia, acquired",
          "hypocalciuric hypercalcemia, familial, type 1",
          "hypocalciuric hypercalcemia, familial, type I"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007791"
    },
    {
      "id": 9938,
      "label": "autosomal dominant hypophosphatemic rickets",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2709,
        2903,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050948",
          "GARD:0016781",
          "MEDGEN:83346",
          "MESH:C562791",
          "OMIM:193100",
          "Orphanet:89937",
          "SCTID:237889002",
          "UMLS:C0342642"
        ],
        "synonyms": [
          "ADHR",
          "autosomal dominant hereditary hypophosphatemic rickets",
          "autosomal dominant hypophosphatemia",
          "autosomal dominant hypophosphatemic rickets",
          "hereditary hypophosphatemic rickets, autosomal dominant",
          "hypophosphatemic rickets, autosomal dominant",
          "hypophosphatemia, autosomal dominant",
          "vitamin D-resistant rickets, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008660"
    },
    {
      "id": 10629,
      "label": "neonatal severe primary hyperparathyroidism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16897,
        18958,
        21247,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002838",
          "MEDGEN:331326",
          "MESH:C563375",
          "NCIT:C131853",
          "OMIM:239200",
          "Orphanet:417",
          "SCTID:715218009",
          "UMLS:C1832615",
          "icd11.foundation:1929875111"
        ],
        "synonyms": [
          "NSHPT",
          "hyperparathyroidism, neonatal",
          "Nsph",
          "hyperparathyroidism, neonatal severe",
          "hyperparathyroidism, neonatal severe primary",
          "neonatal severe hyperparathyroidism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009397"
    },
    {
      "id": 10659,
      "label": "hypophosphatemic rickets, autosomal recessive, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17643,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018416",
          "MEDGEN:1632314",
          "MESH:C562792",
          "OMIM:241520",
          "UMLS:C4551495"
        ],
        "synonyms": [
          "DMP1 autosomal recessive hypophosphatemic rickets",
          "autosomal recessive hypophosphatemic rickets caused by mutation in DMP1",
          "hypophosphatemic rickets, AR",
          "hypophosphatemic rickets, autosomal recessive, 1",
          "hypophosphatemic rickets, autosomal recessive, type 1",
          "ARHR1",
          "Arhr",
          "hypophosphatemia, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009430"
    },
    {
      "id": 10660,
      "label": "hereditary hypophosphatemic rickets with hypercalciuria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2709,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050947",
          "GARD:0016977",
          "MEDGEN:501133",
          "MESH:C562793",
          "NCIT:C131450",
          "OMIM:241530",
          "Orphanet:157215",
          "SCTID:237891005",
          "UMLS:C1853271"
        ],
        "synonyms": [
          "HHRH",
          "hypercalciuric hypophosphatemic rickets",
          "hypophosphatemic hypercalciuric rickets",
          "hypophosphatemic rickets with hypercalciuria",
          "hypercalciuric rickets",
          "hypophosphatemic rickets with hypercalciuria, hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009431"
    },
    {
      "id": 11368,
      "label": "vitamin D-dependent rickets, type 2A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19432,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080884",
          "GARD:0018169",
          "MEDGEN:90989",
          "MESH:C562794",
          "NCIT:C131075",
          "OMIM:277440",
          "SCTID:237894002",
          "UMLS:C0342646"
        ],
        "synonyms": [
          "VDR vitamin D-dependent rickets, type 2",
          "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia",
          "rickets, vitamin D-resistant, type IIA",
          "vitamin D dependent rickets 2a",
          "vitamin D receptor deficiency rickets",
          "vitamin D-dependent rickets, type 2 caused by mutation in VDR",
          "vitamin D-dependent rickets, type 2A",
          "vitamin d-dependent rickets type II with alopecia",
          "Pddr 2A",
          "Pseudovitamin D-deficiency, type 2A",
          "VDDR2A",
          "generalised resistance to 1,25-dihydroxyvitamin D",
          "generalized resistance to 1,25-dihydroxyvitamin D",
          "hypocalcemic vitamin D-resistant rickets",
          "rickets, hereditary vitamin D-resistant",
          "rickets-alopecia syndrome",
          "vitamin D-dependent rickets, type 2A, with or without alopecia",
          "vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010186"
    },
    {
      "id": 11524,
      "label": "hypophosphatemic rickets, X-linked recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20040,
        20126,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080353",
          "GARD:0015011",
          "MEDGEN:335115",
          "OMIM:300554",
          "UMLS:C1845168"
        ],
        "synonyms": [
          "CLCN5 X-linked hypophosphatemic rickets",
          "X-linked hypophosphatemic rickets caused by mutation in CLCN5",
          "hypophosphatemic rickets, X-linked recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010358"
    },
    {
      "id": 11766,
      "label": "X-linked dominant hypophosphatemic rickets",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20039,
        20126,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050445",
          "GARD:0012943",
          "MEDGEN:196551",
          "NANDO:1200779",
          "NCIT:C85234",
          "OMIM:307800",
          "Orphanet:89936",
          "SCTID:82236004",
          "UMLS:C0733682"
        ],
        "synonyms": [
          "X-linked hypophosphatemia",
          "X-linked hypophosphatemic rickets",
          "X-linked dominant hypophosphatemic rickets",
          "X-linked hereditary hypophosphatemic rickets",
          "XLH",
          "hereditary hypophosphatemic rickets, X-linked",
          "hypophosphatemic rickets, X-linked",
          "hypophosphatemic rickets, X-linked dominant, X-linked dominant",
          "rickets, vitamin D-resistant",
          "vitamin D-resistant rickets, X-linked",
          "HPDR",
          "HYP",
          "XLHR",
          "hypophophatemia, X-linked",
          "hypophophatemic vitamin D-resistant rickets",
          "hypophosphatemia, X-linked",
          "hypophosphatemic rickets, X-linked dominant",
          "hypophosphatemic vitamin D-resistant rickets"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010619"
    },
    {
      "id": 11946,
      "label": "vitamin D hydroxylation-deficient rickets, type 1B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4594,
        11127,
        23508,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080887",
          "GARD:0018415",
          "MEDGEN:374020",
          "MESH:C564005",
          "NCIT:C131074",
          "OMIM:600081",
          "UMLS:C1838657"
        ],
        "synonyms": [
          "CYP2R1 vitamin D-dependent rickets, type 1",
          "Vitam D hydroxylation-deficient rickets type 1b",
          "rickets due to defect in vitamin D 25-hydroxylation deficiency",
          "vitamin D 25-Hydroxylase deficiency",
          "vitamin D hydroxylation-deficient rickets type 1b",
          "vitamin D hydroxylation-deficient rickets, type 1B",
          "vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1",
          "25-Hydroxyvitamin D3 deficiency, selective",
          "Pseudovitamin D3 deficiency rickets due to 25-Hydroxylase deficiency",
          "VDDR1B",
          "vitamin D-dependent rickets, type 1B"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010810"
    },
    {
      "id": 12064,
      "label": "vitamin D-dependent rickets, type 2B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19432,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080885",
          "GARD:0018170",
          "MEDGEN:411667",
          "NANDO:1200779",
          "NCIT:C131076",
          "OMIM:600785",
          "SCTID:237895001",
          "UMLS:C2748783"
        ],
        "synonyms": [
          "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopecia",
          "vitamin D dependent rickets 2b",
          "vitamin D receptor signaling defect rickets",
          "vitamin D receptor signalling defect rickets",
          "vitamin D resistant rickets",
          "vitamin D-dependent rickets type II without alopecia",
          "VDDR2B",
          "vitamin D-dependent rickets, type 2B, with normal vitamin D receptor"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010931"
    },
    {
      "id": 13457,
      "label": "hyperparathyroidism 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16003,
        18958,
        21247,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018255",
          "MEDGEN:355277",
          "MESH:C566450",
          "OMIM:610071",
          "UMLS:C1864729"
        ],
        "synonyms": [
          "HRPT3",
          "hyperparathyroidism 3",
          "hyperparathyroidism, familial isolated"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012406"
    },
    {
      "id": 14255,
      "label": "hypophosphatemic rickets, autosomal recessive, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17643,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018417",
          "MEDGEN:442380",
          "MESH:C567647",
          "NORD:2000",
          "OMIM:613312",
          "UMLS:C2750078"
        ],
        "synonyms": [
          "Autosomal Recessive Hypophosphatemic Rickets Type 2",
          "ENPP1 autosomal recessive hypophosphatemic rickets",
          "autosomal recessive hypophosphatemic rickets caused by mutation in ENPP1",
          "hypophosphatemic rickets, autosomal recessive, 2",
          "hypophosphatemic rickets, autosomal recessive, type 2",
          "ARHR2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013219"
    },
    {
      "id": 20129,
      "label": "vitamin D-dependent rickets, type 1A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11127,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080886",
          "GARD:0018636",
          "OMIM:264700"
        ],
        "synonyms": [
          "vitamin D-dependent rickets, type 1A",
          "vitamin D-dependent rickets, type I",
          "1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective",
          "1-Alpha-Hydroxylase deficiency",
          "25-hydroxycholecalciferol-1-Hydroxylase deficiency",
          "PDDR 1A",
          "VDDR1A",
          "pseudovitamin D-deficiency rickets, type 1A",
          "vitamin D dependency, type 1",
          "vitamin D hydroxylation-deficient rickets, type 1A"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020723"
    },
    {
      "id": 21515,
      "label": "hyperparathyroidism 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16003,
        18958,
        21247,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018256",
          "MEDGEN:1386327",
          "OMIM:617343",
          "UMLS:C4479229"
        ],
        "synonyms": [
          "GCM2 familial isolated hyperparathyroidism",
          "familial isolated hyperparathyroidism caused by mutation in GCM2",
          "hyperparathyroidism 4",
          "hyperparathyroidism type 4",
          "HRPT4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024570"
    },
    {
      "id": 22278,
      "label": "hyperparathyroidism, transient neonatal",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16765,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016304",
          "MEDGEN:722059",
          "OMIM:618188",
          "UMLS:C1300287"
        ],
        "synonyms": [
          "HRPTTN",
          "hyperparathyroidism, transient neonatal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032591"
    }
  ],
  "roots": [
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}