{
    "disease_id": "DOID:0112300",
    "recommended_name": {
        "id": "DOID:0112300",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112300",
        "name": "spondylometaphyseal dysplasia with cone-rod dystrophy",
        "description": "A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT1A gene on chromosome 3q29."
    },
    "synonyms": [
        {
            "id": "DOID:0112300",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112300",
            "name": "SMD-CRD",
            "description": ""
        },
        {
            "id": "DOID:0112300",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112300",
            "name": "SMDCRD",
            "description": ""
        },
        {
            "id": "DOID:0112300",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112300",
            "name": "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012160",
            "name": "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome",
            "description": "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive."
        },
        {
            "id": "MONDO:0012160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012160",
            "name": "SMD-CRD",
            "description": ""
        },
        {
            "id": "MONDO:0012160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012160",
            "name": "SmD-CRD",
            "description": ""
        },
        {
            "id": "MONDO:0012160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012160",
            "name": "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012160",
            "name": "SMDCRD",
            "description": ""
        },
        {
            "id": "MONDO:0012160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012160",
            "name": "spondylometaphyseal dysplasia with cone-rod dystrophy",
            "description": ""
        },
        {
            "id": "MIM:608940",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608940",
            "name": "Spondylometaphyseal dysplasia with cone-rod dystrophy",
            "description": "Spondylometaphyseal dysplasia with cone-rod dystrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112300"
    ],
    "unlinked_id_list": []
}