{
  "id": 19476,
  "label": "chondrodysplasia punctata",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019701",
  "properties": {
    "xrefs": [
      "DOID:2581",
      "GARD:0008542",
      "ICD10CM:Q77.3",
      "ICD9:756.59",
      "MEDGEN:3052",
      "MESH:D002806",
      "NANDO:2201017",
      "NCIT:C84632",
      "Orphanet:93442",
      "SCTID:360507004",
      "UMLS:C0008445",
      "icd11.foundation:1923035846"
    ],
    "synonyms": [
      "CDP",
      "chondrodysplasia calcificans congenita",
      "chondrodysplasia punctata (stippled epiphyses) Group",
      "chondrodysplasia punctata congenita"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "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": 10232,
      "label": "Greenberg dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19104,
        19476,
        20345
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111588",
          "GARD:0008754",
          "MEDGEN:418969",
          "MESH:C535858",
          "NANDO:2201361",
          "OMIM:215140",
          "Orphanet:1426",
          "SCTID:389261002",
          "UMLS:C2931048",
          "icd11.foundation:1858458540"
        ],
        "synonyms": [
          "Greenberg dysplasia",
          "hem dysplasia",
          "hydrops-ectopic calcification-motheaten syndrome",
          "skeletal dysplasia, Greenberg type",
          "GRBGD",
          "Greenberg skeletal dysplasia",
          "autosomal recessive lethal chondrodystrophy with congenital hydrops",
          "chondrodystrophy, hydropic and prenatally lethal type",
          "hem",
          "hem skeletal dysplasia",
          "hem/Greenberg dysplasia",
          "hydrops, ectopic calcification, moth-eaten skeletal dysplasia",
          "hydrops-ectopic calcification-moth-eaten skeletal dysplasia",
          "moth-eaten skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008974"
    },
    {
      "id": 10720,
      "label": "Keutel syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16087,
        18956,
        19476
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008449",
          "MEDGEN:383722",
          "MESH:C536167",
          "OMIM:245150",
          "Orphanet:85202",
          "SCTID:724208006",
          "UMLS:C1855607",
          "icd11.foundation:1083151379"
        ],
        "synonyms": [
          "Keutel syndrome",
          "pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome",
          "KEUTEL syndrome",
          "KTLS",
          "pulmonic stenosis brachytelephalangism and calcification of cartilages",
          "pulmonic stenosis, brachytelephalangism, and calcification of cartilages"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Keutel syndrome is characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009495"
    },
    {
      "id": 11768,
      "label": "CHILD syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3036,
        6801,
        16089,
        16607,
        17598,
        19104,
        19476,
        21247,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111822",
          "GARD:0006039",
          "ICD9:759.89",
          "MEDGEN:82697",
          "MESH:C562515",
          "NANDO:1200629",
          "NANDO:2200998",
          "NANDO:2201358",
          "NORD:1284",
          "OMIM:308050",
          "Orphanet:139",
          "SCTID:17608003",
          "UMLS:C0265267"
        ],
        "synonyms": [
          "CHILD syndrome",
          "CHILD syndrome, X-linked dominant",
          "Ichthyosis, CHILD Syndrome",
          "child nevus",
          "child syndrome",
          "congenital hemidysplasia with ichthyosiform erythroderma and limb defects",
          "congenital hemidysplasia with ichthyosiform nevus and limb defects",
          "ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs",
          "ichthyosis, child syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010621"
    },
    {
      "id": 15509,
      "label": "fatty acyl-CoA reductase 1 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7019,
        19476,
        24013
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081243",
          "GARD:0013319",
          "MEDGEN:863781",
          "OMIM:616154",
          "Orphanet:438178",
          "UMLS:C4015344"
        ],
        "synonyms": [
          "FAR1 deficiency",
          "fatty acyl-CoA reductase 1 deficiency",
          "fatty acyl-CoA reductase 1 disorder",
          "fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency",
          "rhizomelic chondrodysplasia punctata type 4",
          "severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency",
          "severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency",
          "severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder",
          "PFCRD",
          "peroxisomal fatty acyl-CoA reductase 1 disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A rhizomelic chondrodysplasia punctate that has material basis in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014510"
    },
    {
      "id": 16531,
      "label": "non-rhizomelic chondrodysplasia punctata",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19476
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018679",
          "MEDGEN:1842643",
          "Orphanet:176",
          "UMLS:C5681009"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission."
      },
      "child_count": 3,
      "reference_id": "MONDO:0015775"
    },
    {
      "id": 16532,
      "label": "rhizomelic chondrodysplasia punctata",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019,
        18162,
        19476
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2580",
          "GARD:0013160",
          "ICD10CM:E71.540",
          "MEDGEN:79471",
          "MESH:D018902",
          "NCIT:C85047",
          "OMIMPS:215100",
          "Orphanet:177",
          "SCTID:56692003",
          "UMLS:C0282529",
          "icd11.foundation:260357080"
        ],
        "synonyms": [
          "RCDP",
          "rhizomelic chondrodysplasia punctata",
          "rhizomelic chondrodysplasia punctata syndrome",
          "rhizomelic dwarfism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth."
      },
      "child_count": 12,
      "reference_id": "MONDO:0015776"
    },
    {
      "id": 19237,
      "label": "Astley-Kendall dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19476
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019050",
          "MEDGEN:224886",
          "MESH:C535392",
          "NANDO:2201362",
          "Orphanet:85175",
          "SCTID:389263004",
          "UMLS:C1300228",
          "icd11.foundation:1367227076"
        ],
        "synonyms": [
          "Astley-Kendall syndrome",
          "short limbed dwarfism with extensive stippling"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019408"
    },
    {
      "id": 19931,
      "label": "dappled diaphyseal dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19476
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025165",
          "ICD9:756.59",
          "MEDGEN:468529",
          "Orphanet:99645",
          "SCTID:389262009",
          "UMLS:C1300227",
          "icd11.foundation:2067032637"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020473"
    }
  ],
  "roots": [
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}