{
    "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 the LMBR1 gene 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": "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones."
        },
        {
            "id": "MONDO:0008572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008572",
            "name": "Werner mesomelic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008572",
            "name": "absent tibia-polydactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008572",
            "name": "hypoplastic or aplastic tibia with polydactyly",
            "description": ""
        },
        {
            "id": "MONDO:0008572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008572",
            "name": "hypoplastic tibiae-postaxial polydactyly 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": "THYP",
            "description": ""
        },
        {
            "id": "MONDO:0008572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008572",
            "name": "absence of tibia with polydactyly",
            "description": ""
        },
        {
            "id": "MONDO:0008572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008572",
            "name": "polydactyly with absent tibia",
            "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": "tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome",
            "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"
        }
    ]
}