{
    "disease_id": "DOID:0060292", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010555", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010555", 
            "name": "arse X-linked chondrodysplasia punctata"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010555", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010555", 
            "name": "chondrodysplasia punctata 1, X-linked recessive; CDPX1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010555", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010555", 
            "name": "CDPX1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010555", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010555", 
            "name": "CPXR"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010555", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010555", 
            "name": "brachytelephalangic chondrodysplasia punctata"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010555", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010555", 
            "name": "chondrodysplasia punctata 1, X-linked recessive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010555", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010555", 
            "name": "arylsulfatase E deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010555", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010555", 
            "name": "chondrodysplasia punctata 1 X-linked recessive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010555", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010555", 
            "name": "X-linked chondrodysplasia punctata caused by mutation in arse"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010555", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010555", 
            "name": "chondrodysplasia punctata, brachytelephalangic"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010555", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010555", 
            "name": "chondrodysplasia punctata brachytelephalangic"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060292", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060292", 
            "name": "chondrodystrophia calcificans congenita"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060292", 
        "description": "A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, has_material_basis_in X-linked recessive inheritance, has_material_basis_in deficiency of arylsulfatase E. and is associated with associated with vitamin K-related teratogenicity.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060292", 
        "name": "X-linked chondrodysplasia punctata 1"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060292#disease-associations", 
            "id": "0060292", 
            "database": "Alliance of Genome Resources"
        }
    ]
}