{
    "disease_id": "DOID:0060292",
    "recommended_name": {
        "id": "DOID:0060292",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060292",
        "name": "X-linked chondrodysplasia punctata 1",
        "description": "A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22."
    },
    "synonyms": [
        {
            "id": "DOID:0060292",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060292",
            "name": "chondrodystrophia calcificans congenita",
            "description": ""
        },
        {
            "id": "MONDO:0010555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010555",
            "name": "X-linked chondrodysplasia punctata 1",
            "description": "Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones."
        },
        {
            "id": "MONDO:0010555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010555",
            "name": "ARSE X-linked chondrodysplasia punctata",
            "description": ""
        },
        {
            "id": "MONDO:0010555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010555",
            "name": "X-linked chondrodysplasia punctata 1",
            "description": ""
        },
        {
            "id": "MONDO:0010555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010555",
            "name": "X-linked chondrodysplasia punctata caused by mutation in ARSE",
            "description": ""
        },
        {
            "id": "MONDO:0010555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010555",
            "name": "X-linked chondrodysplasia punctata caused by mutation in arse",
            "description": ""
        },
        {
            "id": "MONDO:0010555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010555",
            "name": "arse X-linked chondrodysplasia punctata",
            "description": ""
        },
        {
            "id": "MONDO:0010555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010555",
            "name": "brachytelephalangic chondrodysplasia punctata",
            "description": ""
        },
        {
            "id": "MONDO:0010555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010555",
            "name": "chondrodysplasia punctata, X-linked recessive, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010555",
            "name": "CDPX1",
            "description": ""
        },
        {
            "id": "MONDO:0010555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010555",
            "name": "CPXR",
            "description": ""
        },
        {
            "id": "MONDO:0010555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010555",
            "name": "arylsulfatase E deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010555",
            "name": "chondrodysplasia punctata 1 X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010555",
            "name": "chondrodysplasia punctata 1, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010555",
            "name": "chondrodysplasia punctata brachytelephalangic",
            "description": ""
        },
        {
            "id": "MONDO:0010555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010555",
            "name": "chondrodysplasia punctata, brachytelephalangic",
            "description": ""
        },
        {
            "id": "MIM:302950",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/302950",
            "name": "Chondrodysplasia punctata 1, X-linked recessive",
            "description": "Chondrodysplasia punctata 1, X-linked recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060292"
    ],
    "unlinked_id_list": []
}