{
  "id": 19702,
  "label": "pseudohypoparathyroidism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019992",
  "properties": {
    "xrefs": [
      "DOID:4184",
      "GARD:0010758",
      "ICD10CM:E20.1",
      "ICD9:275.49",
      "MEDGEN:46178",
      "MESH:D011547",
      "MedDRA:10037126",
      "NANDO:1200776",
      "NANDO:2100126",
      "NANDO:2200349",
      "NCIT:C99027",
      "NORD:1627",
      "Orphanet:97593",
      "SCTID:58976002",
      "UMLS:C0033806",
      "icd11.foundation:1225154856"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 6470,
      "label": "inborn metal metabolism disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:896",
          "GARD:0024088",
          "MEDGEN:6325",
          "MESH:D008664",
          "UMLS:C0025534"
        ],
        "synonyms": [
          "metal metabolism disorder",
          "metal metabolism, inborn error"
        ],
        "definition": "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals."
      },
      "child_count": 9,
      "reference_id": "MONDO:0004689"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019900",
          "MEDGEN:1826093",
          "Orphanet:139009",
          "UMLS:C5680623"
        ]
      },
      "child_count": 114,
      "reference_id": "MONDO:0015327"
    },
    {
      "id": 16626,
      "label": "inherited renal tubular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20667,
        23932
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020306",
          "MEDGEN:1826140",
          "Orphanet:183592",
          "UMLS:C5680544"
        ],
        "synonyms": [
          "genetic renal tubular disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 56,
      "reference_id": "MONDO:0015962"
    },
    {
      "id": 16764,
      "label": "hereditary hypoparathyroidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3460,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020407",
          "MEDGEN:1842344",
          "Orphanet:208593",
          "UMLS:C5680825"
        ],
        "synonyms": [
          "genetic hypoparathyroidism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An instance of hypoparathyroidism that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 6,
      "reference_id": "MONDO:0016165"
    }
  ],
  "children": [
    {
      "id": 8492,
      "label": "pseudohypoparathyroidism type 1A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19473,
        19702,
        25052
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080053",
          "GARD:0007486",
          "ICD9:275.49",
          "MEDGEN:488447",
          "MESH:C537045",
          "NANDO:1201075",
          "NCIT:C129721",
          "OMIM:103580",
          "Orphanet:79443",
          "SCTID:58833000",
          "UMLS:C3494506",
          "icd11.foundation:1513156369"
        ],
        "synonyms": [
          "AHO-PHP syndrome Ia",
          "Albright hereditary osteodystrophy",
          "Albright hereditary osteodystrophy with multiple hormone resistance",
          "Albright hereditary osteodystrophy-PHP syndrome Ia",
          "PHP1A",
          "Pseudohypoparathyroidism Ia",
          "Pseudohypoparathyroidism type 1A",
          "AHO",
          "PHP 1A",
          "Pseudohypoparathyroidism, type 1A",
          "Pseudohypoparathyroidism, type IA"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007078"
    },
    {
      "id": 10022,
      "label": "pseudohypoparathyroidism type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19702
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010682",
          "ICD9:275.49",
          "MEDGEN:444371",
          "MESH:C548077",
          "NANDO:1201078",
          "OMIM:203330",
          "Orphanet:94090",
          "SCTID:42183005",
          "UMLS:C2932717",
          "icd11.foundation:1650158822"
        ],
        "synonyms": [
          "PHP II",
          "PHP2",
          "Php 2",
          "pseudohypoparathyroidism, type II"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008749"
    },
    {
      "id": 12417,
      "label": "pseudohypoparathyroidism type 1B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19702,
        25052
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080222",
          "GARD:0010680",
          "MEDGEN:350343",
          "MESH:C548075",
          "NANDO:1201076",
          "OMIM:603233",
          "Orphanet:94089",
          "UMLS:C1864100",
          "icd11.foundation:440485628"
        ],
        "synonyms": [
          "pseudohypoparathyroidism Ib",
          "PHP1B",
          "Php 1B",
          "pseudohypoparathyroidism type IB",
          "pseudohypoparathyroidism, type 1B",
          "pseudohypoparathyroidism, type IB"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011301"
    },
    {
      "id": 13951,
      "label": "pseudohypoparathyroidism type 1C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18458,
        18462,
        19473,
        19702,
        25052
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051013",
          "GARD:0010681",
          "MEDGEN:420958",
          "MESH:C548076",
          "NANDO:1201077",
          "OMIM:612462",
          "Orphanet:79444",
          "SCTID:717792007",
          "UMLS:C2932716",
          "icd11.foundation:1401673748"
        ],
        "synonyms": [
          "pseudohypoparathyroidism Ic",
          "PHP1C",
          "Php 1C",
          "pseudohypoparathyroidism, type 1C",
          "pseudohypoparathyroidism, type IC"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012911"
    },
    {
      "id": 13952,
      "label": "pseudopseudohypoparathyroidism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19473,
        19702,
        25052
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4183",
          "GARD:0007860",
          "ICD9:275.49",
          "MEDGEN:10995",
          "MESH:D011556",
          "NANDO:2200348",
          "NCIT:C129722",
          "OMIM:612463",
          "Orphanet:665",
          "Orphanet:79445",
          "SCTID:237659007",
          "UMLS:C0033835",
          "icd11.foundation:245649135"
        ],
        "synonyms": [
          "Albright Hereditary osteodystrophy with multiple hormone resistance",
          "Albright hereditary osteodystrophy-PPHP syndrome",
          "Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]",
          "aho-PPHP syndrome",
          "pseudopseudohypoparathyroidism",
          "Albright hereditary osteodystrophy without multiple hormone resistance",
          "PPHP",
          "Pseudopseudo-hypoparathyroidism",
          "pseudo-pseudohypoparathyroidism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012912"
    }
  ],
  "roots": [
    {
      "id": 6470,
      "label": "inborn metal metabolism disorder"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 16626,
      "label": "inherited renal tubular disease"
    },
    {
      "id": 16764,
      "label": "hereditary hypoparathyroidism"
    }
  ]
}