{
    "disease_id": "DOID:0111564",
    "recommended_name": {
        "id": "DOID:0111564",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111564",
        "name": "hypoplastic or aplastic tibia with polydactyly",
        "description": "A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of LMBR1 on chromosome 7q36.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111564",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111564",
            "name": "Werner mesomelic syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111564",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111564",
            "name": "absence of tibia with polydactyly",
            "description": ""
        },
        {
            "id": "DOID:0111564",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111564",
            "name": "absent tibia-polydactyly syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111564",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111564",
            "name": "hypoplastic tibiae-postaxial polydactyly syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111564",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111564",
            "name": "tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008572",
            "name": "tibia, hypoplasia or aplasia of, with polydactyly",
            "description": ""
        },
        {
            "id": "MONDO:0008572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008572",
            "name": "tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia",
            "description": ""
        },
        {
            "id": "MONDO:0008572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008572",
            "name": "THYP",
            "description": ""
        },
        {
            "id": "MONDO:0008572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008572",
            "name": "tibia, hypoplasia or aplasia of, with polydactyly; THYP",
            "description": ""
        },
        {
            "id": "MONDO:0008572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008572",
            "name": "tibia, hypoplasia or aplasia of, with polydactyly",
            "description": ""
        },
        {
            "id": "MIM:188740",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/188740",
            "name": "Hypoplasia or aplasia of tibia with polydactyly",
            "description": "Hypoplasia or aplasia of tibia with polydactyly"
        }
    ]
}