{
  "id": 19473,
  "label": "acromelic dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019695",
  "properties": {
    "xrefs": [
      "GARD:0019194",
      "MEDGEN:1843369",
      "Orphanet:93436",
      "UMLS:C4736195",
      "icd11.foundation:177141175"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "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": 2733,
      "label": "geleophysic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19473
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111724",
          "GARD:0002449",
          "ICD9:759.89",
          "MEDGEN:483679",
          "MedDRA:10063361",
          "OMIMPS:231050",
          "Orphanet:2623",
          "SCTID:28557005",
          "UMLS:C3489726",
          "icd11.foundation:518828851"
        ],
        "synonyms": [
          "geleophysic dwarfism",
          "geleophysic dwarfism syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \"happy'')."
      },
      "child_count": 3,
      "reference_id": "MONDO:0000127"
    },
    {
      "id": 8474,
      "label": "Acromicric dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19473
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111243",
          "GARD:0000007",
          "ICD9:756.59",
          "MEDGEN:78549",
          "MESH:C535662",
          "NORD:725",
          "OMIM:102370",
          "Orphanet:969",
          "SCTID:254090007",
          "UMLS:C0265287",
          "icd11.foundation:1006372687"
        ],
        "synonyms": [
          "Acromicric dysplasia",
          "ACMICD",
          "Acromicric skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007055"
    },
    {
      "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": 8527,
      "label": "Angel-shaped phalango-epiphyseal dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19473
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000671",
          "MEDGEN:366028",
          "MESH:C536361",
          "MedDRA:10066017",
          "OMIM:105835",
          "Orphanet:63442",
          "SCTID:720984008",
          "UMLS:C1739384",
          "icd11.foundation:1095628863"
        ],
        "synonyms": [
          "ASPED",
          "Angel shaped phalangoepiphyseal dysplasia",
          "Angel-shaped phalangoepiphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007114"
    },
    {
      "id": 9044,
      "label": "Myhre syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16087,
        19473,
        24323
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002572",
          "ICD9:759.89",
          "MEDGEN:167103",
          "MESH:C537620",
          "NCIT:C123815",
          "NORD:1481",
          "OMIM:139210",
          "Orphanet:2588",
          "SCTID:699316006",
          "UMLS:C0796081"
        ],
        "synonyms": [
          "Myhre syndrome",
          "facial dysmorphism-intellectual disability-short stature-hearing loss syndrome",
          "Growth mental deficiency syndrome of Myhre",
          "Growth-mental deficiency syndrome of Myhre",
          "LAPS syndrome",
          "MYHRE syndrome",
          "MYHRS",
          "facial dysmorphism - intellectual deficit - short stature - hearing loss",
          "laryngotracheal stenosis, arthropathy, prognathism, and short stature"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Myhre syndrome is characterized by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007688"
    },
    {
      "id": 9229,
      "label": "Leri pleonosteosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18956,
        19473
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000088",
          "MEDGEN:331978",
          "MESH:C537118",
          "NORD:1364",
          "OMIM:151200",
          "Orphanet:2900",
          "UMLS:C1835450"
        ],
        "synonyms": [
          "Leri pleonosteosis",
          "leri pleonosteosis chromosome duplication syndrome",
          "Leri type pleonosteosis",
          "Leri's pleonosteosis",
          "chromosome 8q22.1 DUPLICATION syndrome",
          "pleonosteosis Leri type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007894"
    },
    {
      "id": 9534,
      "label": "peripheral dysostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19473
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002015",
          "MEDGEN:1648357",
          "OMIM:170700",
          "Orphanet:1795",
          "UMLS:C4721502"
        ],
        "synonyms": [
          "peripheral dysostosis",
          "dysostosis peripheral"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008227"
    },
    {
      "id": 11165,
      "label": "short-rib thoracic dysplasia 9 with or without polydactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        18735,
        19473,
        24234
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110097",
          "GARD:0015227",
          "ICD9:759.89",
          "MEDGEN:341455",
          "OMIM:266920",
          "Orphanet:140969",
          "SCTID:254092004",
          "UMLS:C1849437"
        ],
        "synonyms": [
          "Conorenal syndrome",
          "Mainzer Saldino syndrome",
          "Mainzer-Saldino syndrome",
          "SRTD9",
          "Saldino-Mainzer syndrome",
          "renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome",
          "short-rib thoracic dysplasia 9 with or without polydactyly",
          "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009964"
    },
    {
      "id": 11452,
      "label": "terminal osseous dysplasia-pigmentary defects syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19470,
        19473
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112149",
          "GARD:0016769",
          "MEDGEN:335344",
          "MESH:C564554",
          "OMIM:300244",
          "Orphanet:88630",
          "UMLS:C1846129"
        ],
        "synonyms": [
          "terminal osseous dysplasia, X-linked dominant",
          "Odpd",
          "Odpf syndrome",
          "TOD",
          "osseous dysplasia, digital, with Facial pigmentary defects and multiple frenula",
          "terminal osseous dysplasia",
          "terminal osseous dysplasia and pigmentary defects"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A syndrome characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010279"
    },
    {
      "id": 11663,
      "label": "intellectual disability-balding-patella luxation-acromicria syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16087,
        19473
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000257",
          "MEDGEN:401129",
          "MESH:C536638",
          "OMIM:300977",
          "Orphanet:3041",
          "SCTID:722002002",
          "UMLS:C1866985"
        ],
        "synonyms": [
          "SHLTS",
          "Scholte syndrome",
          "Scholte-Begeer-van Essen syndrome",
          "SCHOLTE syndrome",
          "early balding, patella luxation, acromicria and hypogonadism",
          "early balding, patella luxation, acromicria, and hypogonadism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010505"
    },
    {
      "id": 12982,
      "label": "acrocapitofemoral dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7171,
        19473
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050604",
          "GARD:0010605",
          "MEDGEN:334681",
          "MESH:C564334",
          "OMIM:607778",
          "Orphanet:63446",
          "SCTID:720416007",
          "UMLS:C1843096",
          "icd11.foundation:687396416"
        ],
        "synonyms": [
          "acrocapitofemoral dysplasia",
          "ACFD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011907"
    },
    {
      "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"
    },
    {
      "id": 15923,
      "label": "short stature-brachydactyly-obesity-global developmental delay syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16087,
        19473,
        24320
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017817",
          "MEDGEN:934656",
          "OMIM:617157",
          "Orphanet:464288",
          "UMLS:C4310689"
        ],
        "synonyms": [
          "SBIDDS",
          "short stature, brachydactyly, intellectual developmental disability, and seizures"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014944"
    },
    {
      "id": 18149,
      "label": "trichorhinophalangeal syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19138,
        19473
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021451",
          "ICD9:759.89",
          "MEDGEN:539179",
          "OMIMPS:190350",
          "Orphanet:324764",
          "SCTID:18077009",
          "UMLS:C0265255"
        ],
        "synonyms": [
          "TRPS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0017951"
    },
    {
      "id": 18256,
      "label": "Weill-Marchesani syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905,
        4370,
        16089,
        19473
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050475",
          "GARD:0004936",
          "ICD9:759.89",
          "MEDGEN:82705",
          "MESH:D056846",
          "MedDRA:10064963",
          "NCIT:C85226",
          "NORD:1842",
          "OMIMPS:277600",
          "Orphanet:3449",
          "SCTID:2884008",
          "UMLS:C0265313"
        ],
        "synonyms": [
          "Weill Marchesani Syndrome",
          "spherophakia-brachymorphia syndrome",
          "WM syndrome",
          "WMS",
          "mesodermal dysmorphodystrophy congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma."
      },
      "child_count": 16,
      "reference_id": "MONDO:0018096"
    },
    {
      "id": 19235,
      "label": "craniofacial conodysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19473
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019049",
          "MEDGEN:929531",
          "Orphanet:85168",
          "UMLS:C4303862"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Craniofacial conodysplasia is characterized by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019406"
    },
    {
      "id": 19540,
      "label": "acrodysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16319,
        19473
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14669",
          "GARD:0005724",
          "ICD9:756.59",
          "MEDGEN:113097",
          "MESH:C538179",
          "NORD:722",
          "OMIMPS:101800",
          "Orphanet:950",
          "SCTID:66758006",
          "UMLS:C0220659",
          "icd11.foundation:477546932"
        ],
        "synonyms": [
          "Arkless-Graham syndrome",
          "Maroteaux-Malamut syndrome",
          "acrodysplasia",
          "nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome",
          "peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay."
      },
      "child_count": 4,
      "reference_id": "MONDO:0019797"
    }
  ],
  "roots": [
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}