{
    "disease_id": "DOID:0090067",
    "recommended_name": {
        "id": "DOID:0090067",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090067",
        "name": "Fuhrmann syndrome",
        "description": "A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25."
    },
    "synonyms": [
        {
            "id": "MONDO:0009232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009232",
            "name": "Fuhrmann syndrome",
            "description": "Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly."
        },
        {
            "id": "MONDO:0009232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009232",
            "name": "Fuhrmann syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009232",
            "name": "Fuhrmann-Rieger-de Sousa syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009232",
            "name": "fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009232",
            "name": "bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies",
            "description": ""
        },
        {
            "id": "MIM:228930",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/228930",
            "name": "Fuhrmann syndrome",
            "description": "Fuhrmann syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090067"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090067",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090067",
            "categories": []
        },
        {
            "id": "MONDO:0009232",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009232",
            "categories": []
        },
        {
            "id": "MIM:228930",
            "database": "MIM",
            "url": "https://www.omim.org/entry/228930",
            "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": "0090067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090067"
                }
            ]
        },
        {
            "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": "228930",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/228930"
                },
                {
                    "id": "0090067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090067"
                }
            ]
        },
        {
            "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": "0090067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090067"
                }
            ]
        },
        {
            "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": "0090067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090067"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090067"
}