{
    "disease_id": "DOID:0090023",
    "recommended_name": {
        "id": "DOID:0090023",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090023",
        "name": "split hand-foot malformation 4",
        "description": "A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28."
    },
    "synonyms": [
        {
            "id": "DOID:0090023",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090023",
            "name": "SHFM4",
            "description": ""
        },
        {
            "id": "MONDO:0011535",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011535",
            "name": "split hand-foot malformation 4",
            "description": "Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene."
        },
        {
            "id": "MONDO:0011535",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011535",
            "name": "SHFM4",
            "description": ""
        },
        {
            "id": "MONDO:0011535",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011535",
            "name": "TP63 split hand-foot malformation",
            "description": ""
        },
        {
            "id": "MONDO:0011535",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011535",
            "name": "split hand-foot malformation caused by mutation in TP63",
            "description": ""
        },
        {
            "id": "MONDO:0011535",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011535",
            "name": "split hand-foot malformation type 4",
            "description": ""
        },
        {
            "id": "MONDO:0011535",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011535",
            "name": "split-hand/foot malformation type 4",
            "description": ""
        },
        {
            "id": "MONDO:0011535",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011535",
            "name": "split-hand/foot malformation 4",
            "description": ""
        },
        {
            "id": "MIM:605289",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605289",
            "name": "Split-hand/foot malformation 4",
            "description": "Split-hand/foot malformation 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090023"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090023",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090023",
            "categories": []
        },
        {
            "id": "MONDO:0011535",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011535",
            "categories": []
        },
        {
            "id": "MIM:605289",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605289",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58JQ56-1",
            "uniprot_ac": "A0AC58JQ56",
            "uniprot_id": "A0AC58JQ56_DANRE",
            "refseq_ac": "XP_073808627",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor protein 63 (p63)",
                    "type": "recommended"
                },
                {
                    "name": "tumor protein 63 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tp63",
                    "type": "recommended"
                },
                {
                    "name": "DNp63",
                    "type": "synonym"
                },
                {
                    "name": "fc89f04",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd3516",
                    "type": "synonym"
                },
                {
                    "name": "p63",
                    "type": "synonym"
                },
                {
                    "name": "tp63",
                    "type": "synonym"
                },
                {
                    "name": "tp73l",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc89f04",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk85h07",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk88b02",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58JQ56-1",
            "evidence": [
                {
                    "id": "0090023",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090023"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88898-1",
            "uniprot_ac": "O88898",
            "uniprot_id": "P63_MOUSE",
            "refseq_ac": "NP_001120731",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor protein 63",
                    "type": "recommended"
                },
                {
                    "name": "TP63",
                    "type": "synonym"
                },
                {
                    "name": "Transformation-related protein 63",
                    "type": "synonym"
                },
                {
                    "name": "Tumor protein p73-like",
                    "type": "synonym"
                },
                {
                    "name": "p63",
                    "type": "synonym"
                },
                {
                    "name": "p73L",
                    "type": "synonym"
                },
                {
                    "name": "tumor protein 63 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "tumor protein 63",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tp63",
                    "type": "recommended"
                },
                {
                    "name": "Trp63",
                    "type": "recommended"
                },
                {
                    "name": "Ket",
                    "type": "synonym"
                },
                {
                    "name": "P51/P63",
                    "type": "synonym"
                },
                {
                    "name": "P63",
                    "type": "synonym"
                },
                {
                    "name": "P73l",
                    "type": "synonym"
                },
                {
                    "name": "Tp63",
                    "type": "synonym"
                },
                {
                    "name": "Tp73l",
                    "type": "synonym"
                },
                {
                    "name": "Trp53rp1",
                    "type": "synonym"
                },
                {
                    "name": "Trp63",
                    "type": "synonym"
                }
            ],
            "record_id": "O88898-1",
            "evidence": [
                {
                    "id": "0090023",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090023"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H3D4-1",
            "uniprot_ac": "Q9H3D4",
            "uniprot_id": "P63_HUMAN",
            "refseq_ac": "NP_001108450",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor protein 63",
                    "type": "recommended"
                },
                {
                    "name": "CUSP",
                    "type": "synonym"
                },
                {
                    "name": "Chronic ulcerative stomatitis protein",
                    "type": "synonym"
                },
                {
                    "name": "Keratinocyte transcription factor KET",
                    "type": "synonym"
                },
                {
                    "name": "TP63",
                    "type": "synonym"
                },
                {
                    "name": "Transformation-related protein 63",
                    "type": "synonym"
                },
                {
                    "name": "Tumor protein p73-like",
                    "type": "synonym"
                },
                {
                    "name": "amplified in squamous cell carcinoma",
                    "type": "synonym"
                },
                {
                    "name": "chronic ulcerative stomatitis protein",
                    "type": "synonym"
                },
                {
                    "name": "keratinocyte transcription factor KET",
                    "type": "synonym"
                },
                {
                    "name": "p40",
                    "type": "synonym"
                },
                {
                    "name": "p51",
                    "type": "synonym"
                },
                {
                    "name": "p63",
                    "type": "synonym"
                },
                {
                    "name": "p73L",
                    "type": "synonym"
                },
                {
                    "name": "transformation-related protein 63",
                    "type": "synonym"
                },
                {
                    "name": "tumor protein 63 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "tumor protein 63",
                    "type": "synonym"
                },
                {
                    "name": "tumor protein p53-competing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TP63",
                    "type": "recommended"
                },
                {
                    "name": "AIS",
                    "type": "synonym"
                },
                {
                    "name": "B(p51A)",
                    "type": "synonym"
                },
                {
                    "name": "B(p51B)",
                    "type": "synonym"
                },
                {
                    "name": "EEC3",
                    "type": "synonym"
                },
                {
                    "name": "KET",
                    "type": "synonym"
                },
                {
                    "name": "LMS",
                    "type": "synonym"
                },
                {
                    "name": "NBP",
                    "type": "synonym"
                },
                {
                    "name": "OFC8",
                    "type": "synonym"
                },
                {
                    "name": "P63",
                    "type": "synonym"
                },
                {
                    "name": "P73H",
                    "type": "synonym"
                },
                {
                    "name": "P73L",
                    "type": "synonym"
                },
                {
                    "name": "RHS",
                    "type": "synonym"
                },
                {
                    "name": "SHFM4",
                    "type": "synonym"
                },
                {
                    "name": "TP53CP",
                    "type": "synonym"
                },
                {
                    "name": "TP53L",
                    "type": "synonym"
                },
                {
                    "name": "TP63",
                    "type": "synonym"
                },
                {
                    "name": "TP73L",
                    "type": "synonym"
                },
                {
                    "name": "p40",
                    "type": "synonym"
                },
                {
                    "name": "p51",
                    "type": "synonym"
                },
                {
                    "name": "p53CP",
                    "type": "synonym"
                },
                {
                    "name": "p63",
                    "type": "synonym"
                },
                {
                    "name": "p73H",
                    "type": "synonym"
                },
                {
                    "name": "p73L",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H3D4-1",
            "evidence": [
                {
                    "id": "605289",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605289"
                },
                {
                    "id": "0090023",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090023"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JJP6-1",
            "uniprot_ac": "Q9JJP6",
            "uniprot_id": "P63_RAT",
            "refseq_ac": "NP_001120811",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor protein 63",
                    "type": "recommended"
                },
                {
                    "name": "Keratinocyte transcription factor KET",
                    "type": "synonym"
                },
                {
                    "name": "TP63",
                    "type": "synonym"
                },
                {
                    "name": "Transformation-related protein 63",
                    "type": "synonym"
                },
                {
                    "name": "Tumor protein p73-like",
                    "type": "synonym"
                },
                {
                    "name": "keratinocyte transcription factor KET",
                    "type": "synonym"
                },
                {
                    "name": "p63",
                    "type": "synonym"
                },
                {
                    "name": "p73L",
                    "type": "synonym"
                },
                {
                    "name": "transformation related protein 63",
                    "type": "synonym"
                },
                {
                    "name": "tumor protein 63 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "tumor protein 63 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tp63",
                    "type": "recommended"
                },
                {
                    "name": "Ket",
                    "type": "synonym"
                },
                {
                    "name": "P63",
                    "type": "synonym"
                },
                {
                    "name": "P73l",
                    "type": "synonym"
                },
                {
                    "name": "Tp63",
                    "type": "synonym"
                },
                {
                    "name": "Tp73l",
                    "type": "synonym"
                },
                {
                    "name": "Trp63",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJP6-1",
            "evidence": [
                {
                    "id": "0090023",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090023"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IMZ4-1",
            "uniprot_ac": "Q8IMZ4",
            "uniprot_id": "Q8IMZ4_DROME",
            "refseq_ac": "NP_996267",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG33336-PB",
                    "type": "synonym"
                },
                {
                    "name": "Dmp53",
                    "type": "synonym"
                },
                {
                    "name": "P53, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "drosophila p53",
                    "type": "synonym"
                },
                {
                    "name": "p53, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "p53-PB",
                    "type": "synonym"
                },
                {
                    "name": "p53-like regulator of apoptosis and cell cycle",
                    "type": "synonym"
                },
                {
                    "name": "protein 53",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "p53",
                    "type": "recommended"
                },
                {
                    "name": "CG10873",
                    "type": "synonym"
                },
                {
                    "name": "CG31325",
                    "type": "synonym"
                },
                {
                    "name": "CG33336",
                    "type": "synonym"
                },
                {
                    "name": "D-p53",
                    "type": "synonym"
                },
                {
                    "name": "DMP53",
                    "type": "synonym"
                },
                {
                    "name": "Dm-P53",
                    "type": "synonym"
                },
                {
                    "name": "DmP53",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33336",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33336",
                    "type": "synonym"
                },
                {
                    "name": "Dmp53",
                    "type": "synonym"
                },
                {
                    "name": "Dp53",
                    "type": "synonym"
                },
                {
                    "name": "P53",
                    "type": "synonym"
                },
                {
                    "name": "dmP53",
                    "type": "synonym"
                },
                {
                    "name": "dmp53",
                    "type": "synonym"
                },
                {
                    "name": "dp53",
                    "type": "synonym"
                },
                {
                    "name": "p53",
                    "type": "synonym"
                },
                {
                    "name": "prac",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IMZ4-1",
            "evidence": [
                {
                    "id": "0090023",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090023"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090023"
}