{
    "disease_id": "DOID:0112181",
    "recommended_name": {
        "id": "DOID:0112181",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112181",
        "name": "Schinzel type phocomelia",
        "description": "A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112181",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112181",
            "name": "Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112181",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112181",
            "name": "AARRS",
            "description": ""
        },
        {
            "id": "DOID:0112181",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112181",
            "name": "Al Awadi-Raas-Rothschild syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112181",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112181",
            "name": "LPHAS",
            "description": ""
        },
        {
            "id": "DOID:0112181",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112181",
            "name": "Schinzel phocomelia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112181",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112181",
            "name": "aplasia/hypoplasia of limbs and pelvis",
            "description": ""
        },
        {
            "id": "DOID:0112181",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112181",
            "name": "congenital absence of ulna and fibula",
            "description": ""
        },
        {
            "id": "DOID:0112181",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112181",
            "name": "limb/pelvis-hypoplasia/aplasia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112181",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112181",
            "name": "severe limb deficit",
            "description": ""
        },
        {
            "id": "DOID:0112181",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112181",
            "name": "absence of ulna and fibula with severe limb deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010164",
            "name": "phocomelia, Schinzel type",
            "description": "Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder."
        },
        {
            "id": "MONDO:0010164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010164",
            "name": "Al Awadi-Raas-Rothschild syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010164",
            "name": "aplasia/hypoplasia of limbs and pelvis",
            "description": ""
        },
        {
            "id": "MONDO:0010164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010164",
            "name": "congenital absence of ulna and fibula",
            "description": ""
        },
        {
            "id": "MONDO:0010164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010164",
            "name": "severe limb deficit",
            "description": ""
        },
        {
            "id": "MONDO:0010164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010164",
            "name": "AARRS",
            "description": ""
        },
        {
            "id": "MONDO:0010164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010164",
            "name": "Al Awadi Teebi Farag syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010164",
            "name": "Al-Awadi-Raas-Rothschild syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010164",
            "name": "Al-Awadi/Raas-Rothschild syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010164",
            "name": "Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010164",
            "name": "Schinzel phocomelia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010164",
            "name": "Teebi Naguib Al Awadi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010164",
            "name": "absence of ulna and fibula with severe limb deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010164",
            "name": "limb/pelvis-hypoplasia/aplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010164",
            "name": "profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence",
            "description": ""
        },
        {
            "id": "MONDO:0010164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010164",
            "name": "ulna and fibula absence of with severe limb deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010164",
            "name": "ulna and fibula, absence of, with severe limb deficiency",
            "description": ""
        },
        {
            "id": "MIM:276820",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/276820",
            "name": "Limb pelvis hypoplasia aplasia syndrome",
            "description": "Limb pelvis hypoplasia aplasia syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112181"
    ],
    "unlinked_id_list": []
}