{
    "disease_id": "DOID:2580", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008972", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008972", 
            "name": "rhizomelic chondrodysplasia punctata type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008972", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008972", 
            "name": "chondrodysplasia punctata, rhizomelic form"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008972", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008972", 
            "name": "rhizomelic chondrodysplasia punctata, type 1; RCDP1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008972", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008972", 
            "name": "rhizomelic chondrodysplasia punctata, type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008972", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008972", 
            "name": "Rcdp1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008972", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008972", 
            "name": "chondrodystrophia calcificans punctata"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008972", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008972", 
            "name": "PEX7 rhizomelic chondrodysplasia punctata"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008972", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008972", 
            "name": "rhizomelic chondrodysplasia punctata caused by mutation in PEX7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008972", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008972", 
            "name": "Pbd9"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008972", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008972", 
            "name": "peroxisome biogenesis disorder 9"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:2580", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:2580", 
            "name": "Chondrodysplasia Punctata, Rhizomelic Form"
        }, 
        {
            "url": "https://www.omim.org/entry/215100", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:215100", 
            "name": "Rhizomelic chondrodysplasia punctata 1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:2580", 
        "description": "A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity.", 
        "resource": "Disease Ontology", 
        "id": "DOID:2580", 
        "name": "rhizomelic chondrodysplasia punctata"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/215100", 
            "id": "215100", 
            "database": "MIM"
        }
    ]
}