{
    "disease_id": "DOID:0112181",
    "recommended_name": {
        "id": "DOID:0112181",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0112181",
            "name": "Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112181",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112181",
            "name": "AARRS",
            "description": ""
        },
        {
            "id": "DOID:0112181",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112181",
            "name": "Al Awadi-Raas-Rothschild syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112181",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112181",
            "name": "LPHAS",
            "description": ""
        },
        {
            "id": "DOID:0112181",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112181",
            "name": "Schinzel phocomelia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112181",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112181",
            "name": "aplasia/hypoplasia of limbs and pelvis",
            "description": ""
        },
        {
            "id": "DOID:0112181",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112181",
            "name": "congenital absence of ulna and fibula",
            "description": ""
        },
        {
            "id": "DOID:0112181",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112181",
            "name": "limb/pelvis-hypoplasia/aplasia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112181",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112181",
            "name": "severe limb deficit",
            "description": ""
        },
        {
            "id": "DOID:0112181",
            "resource": "Disease Ontology",
            "url": "https://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/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": "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": "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": [],
    "crossref": [
        {
            "id": "DOID:0112181",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112181",
            "categories": []
        },
        {
            "id": "MONDO:0010164",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010164",
            "categories": []
        },
        {
            "id": "MIM:276820",
            "database": "MIM",
            "url": "https://www.omim.org/entry/276820",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P24383-1",
            "uniprot_ac": "P24383",
            "uniprot_id": "WNT7A_MOUSE",
            "refseq_ac": "NP_033553",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Wnt-7a",
                    "type": "recommended"
                },
                {
                    "name": "postaxial hemimelia",
                    "type": "synonym"
                },
                {
                    "name": "protein Wnt-7a isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein Wnt-7a",
                    "type": "synonym"
                },
                {
                    "name": "wingless-related MMTV integration site 7A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wnt7a",
                    "type": "recommended"
                },
                {
                    "name": "Wnt-7a",
                    "type": "synonym"
                },
                {
                    "name": "Wnt7a",
                    "type": "synonym"
                },
                {
                    "name": "px",
                    "type": "synonym"
                },
                {
                    "name": "tw",
                    "type": "synonym"
                }
            ],
            "record_id": "P24383-1",
            "evidence": [
                {
                    "id": "0112181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112181"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00755-1",
            "uniprot_ac": "O00755",
            "uniprot_id": "WNT7A_HUMAN",
            "refseq_ac": "NP_004616",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Wnt-7a",
                    "type": "recommended"
                },
                {
                    "name": "protein Wnt-7a precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein Wnt-7a",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene Wnt7a protein",
                    "type": "synonym"
                },
                {
                    "name": "wingless-type MMTV integration site family, member 7A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WNT7A",
                    "type": "recommended"
                },
                {
                    "name": "SANTOS",
                    "type": "synonym"
                },
                {
                    "name": "WNT7A",
                    "type": "synonym"
                },
                {
                    "name": "Wnt-7a",
                    "type": "synonym"
                }
            ],
            "record_id": "O00755-1",
            "evidence": [
                {
                    "id": "276820",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/276820"
                },
                {
                    "id": "0112181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112181"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R9D3-1",
            "uniprot_ac": "M0R9D3",
            "uniprot_id": "M0R9D3_RAT",
            "refseq_ac": "NP_001093943",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Wnt",
                    "type": "recommended"
                },
                {
                    "name": "protein Wnt-7a",
                    "type": "synonym"
                },
                {
                    "name": "wingless-related MMTV integration site 7A",
                    "type": "synonym"
                },
                {
                    "name": "wingless-type MMTV integration site 7A",
                    "type": "synonym"
                },
                {
                    "name": "wingless-type MMTV integration site family, member 7A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wnt7a",
                    "type": "recommended"
                },
                {
                    "name": "Wnt7a",
                    "type": "synonym"
                }
            ],
            "record_id": "M0R9D3-1",
            "evidence": [
                {
                    "id": "0112181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112181"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28465-1",
            "uniprot_ac": "P28465",
            "uniprot_id": "WNT2_DROME",
            "refseq_ac": "NP_476810",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Wnt-2",
                    "type": "recommended"
                },
                {
                    "name": "CG1916-PA",
                    "type": "synonym"
                },
                {
                    "name": "Wnt oncogene analog 2, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Wnt2-PA",
                    "type": "synonym"
                },
                {
                    "name": "dWnt-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wnt2",
                    "type": "recommended"
                },
                {
                    "name": "CG1916",
                    "type": "synonym"
                },
                {
                    "name": "D-wnt-2",
                    "type": "synonym"
                },
                {
                    "name": "DWnt-2",
                    "type": "synonym"
                },
                {
                    "name": "DWnt2",
                    "type": "synonym"
                },
                {
                    "name": "Dm DWnt2",
                    "type": "synonym"
                },
                {
                    "name": "Dm-2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1916",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1916",
                    "type": "synonym"
                },
                {
                    "name": "Dwnt-2",
                    "type": "synonym"
                },
                {
                    "name": "Dwnt2",
                    "type": "synonym"
                },
                {
                    "name": "Wnt-2",
                    "type": "synonym"
                },
                {
                    "name": "Wnt2",
                    "type": "synonym"
                },
                {
                    "name": "Wnt",
                    "type": "synonym"
                },
                {
                    "name": "dWnt2",
                    "type": "synonym"
                },
                {
                    "name": "wnt-2",
                    "type": "synonym"
                },
                {
                    "name": "wnt2",
                    "type": "synonym"
                }
            ],
            "record_id": "P28465-1",
            "evidence": [
                {
                    "id": "0112181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112181"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112181"
}