{
    "disease_id": "DOID:0110092",
    "recommended_name": {
        "id": "DOID:0110092",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110092",
        "name": "short-rib thoracic dysplasia 6 with or without polydactyly",
        "description": "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33."
    },
    "synonyms": [
        {
            "id": "DOID:0110092",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110092",
            "name": "Majewski syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110092",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110092",
            "name": "SRPS2A",
            "description": ""
        },
        {
            "id": "DOID:0110092",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110092",
            "name": "SRTD6",
            "description": ""
        },
        {
            "id": "DOID:0110092",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110092",
            "name": "polydactyly with neonatal chondrodystrophy, type II",
            "description": ""
        },
        {
            "id": "DOID:0110092",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110092",
            "name": "short rib-polydactyly syndrome type IIA",
            "description": ""
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "short-rib thoracic dysplasia 6 with or without polydactyly",
            "description": "A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia."
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "short-rib thoracic dysplasia 6 with or without polydactyly",
            "description": ""
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "Srps, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "polydactyly with neonatal chondrodystrophy type II",
            "description": ""
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "SRTD6",
            "description": ""
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "short-rib thoracic dysplasia 6 with or without polydactyly; SRTD6",
            "description": ""
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "SRPS2A",
            "description": ""
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "short rib-polydactyly syndrome type IIA",
            "description": ""
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "short rib-polydactyly syndrome, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "Majewski syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "polydactyly with neonatal chondrodystrophy, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "polydactyly with neonatal chondrodystrophy, type II",
            "description": ""
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "short rib-polydactyly syndrome, type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "short rib-polydactyly syndrome type II",
            "description": ""
        },
        {
            "id": "MIM:263520",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/263520",
            "name": "Short-rib thoracic dysplasia 6 with or without polydactyly",
            "description": "Short-rib thoracic dysplasia 6 with or without polydactyly"
        }
    ]
}