{
    "disease_id": "DOID:0080352",
    "recommended_name": {
        "id": "DOID:0080352",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080352",
        "name": "X-linked chondrodysplasia punctata 2",
        "description": "A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11."
    },
    "synonyms": [
        {
            "id": "DOID:0080352",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080352",
            "name": "Conradi-Hunermann Syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080352",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080352",
            "name": "Happle syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "X-linked chondrodysplasia punctata 2",
            "description": "A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature."
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "CDPX2",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "CDPXD",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "Conrad Hunermann Happle syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "Conradi Hunermann syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "Conradi-Hunermann syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "Conradi-Hunermann-Happle syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "Conradi-Hnermann-Happle syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "EBP chondrodysplasia punctata",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "Happle syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "X-linked chondrodysplasia punctata type 2",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "chondrodysplasia punctata 2 X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "chondrodysplasia punctata 2, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "chondrodysplasia punctata caused by mutation in EBP",
            "description": ""
        },
        {
            "id": "MONDO:0020603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020603",
            "name": "chondrodysplasia punctata, X-linked dominant, X-linked dominant",
            "description": ""
        },
        {
            "id": "MIM:302960",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/302960",
            "name": "Chondrodysplasia punctata 2, X-linked dominant",
            "description": "Chondrodysplasia punctata 2, X-linked dominant"
        }
    ]
}