{
    "disease_id": "DOID:0090024",
    "recommended_name": {
        "id": "DOID:0090024",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090024",
        "name": "split hand-foot malformation 1 with sensorineural hearing loss",
        "description": "A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21."
    },
    "synonyms": [
        {
            "id": "DOID:0090024",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090024",
            "name": "SHFM1D",
            "description": ""
        },
        {
            "id": "DOID:0090024",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090024",
            "name": "congenital deafness with split hands and feet",
            "description": ""
        },
        {
            "id": "MONDO:0009080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009080",
            "name": "split hand-foot malformation 1 with sensorineural hearing loss",
            "description": "Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit."
        },
        {
            "id": "MONDO:0009080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009080",
            "name": "SHFM1D",
            "description": ""
        },
        {
            "id": "MONDO:0009080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009080",
            "name": "split hand-foot malformation 1 with sensorineural hearing loss",
            "description": ""
        },
        {
            "id": "MONDO:0009080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009080",
            "name": "split-hand/foot malformation 1 with sensorineural hearing loss",
            "description": ""
        },
        {
            "id": "MONDO:0009080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009080",
            "name": "split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:220600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/220600",
            "name": "Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive",
            "description": "Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090024"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090024",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090024",
            "categories": []
        },
        {
            "id": "MONDO:0009080",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009080",
            "categories": []
        },
        {
            "id": "MIM:220600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/220600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P50576-1",
            "uniprot_ac": "P50576",
            "uniprot_id": "DLX5A_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Dlx5a",
                    "type": "recommended"
                },
                {
                    "name": "DLX-4",
                    "type": "synonym"
                },
                {
                    "name": "Distal-less homeobox protein 5a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dlx5a",
                    "type": "recommended"
                },
                {
                    "name": "dlx4",
                    "type": "synonym"
                }
            ],
            "record_id": "P50576-1",
            "evidence": [
                {
                    "id": "0090024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090024"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70396-1",
            "uniprot_ac": "P70396",
            "uniprot_id": "DLX5_MOUSE",
            "refseq_ac": "NP_034186",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein DLX-5",
                    "type": "recommended"
                },
                {
                    "name": "homeobox protein DLX-5 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein DLX-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dlx5",
                    "type": "recommended"
                },
                {
                    "name": "Dlx5",
                    "type": "synonym"
                }
            ],
            "record_id": "P70396-1",
            "evidence": [
                {
                    "id": "0090024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090024"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56178-1",
            "uniprot_ac": "P56178",
            "uniprot_id": "DLX5_HUMAN",
            "refseq_ac": "NP_005212",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein DLX-5",
                    "type": "recommended"
                },
                {
                    "name": "distal-less homeo box 5",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein DLX-5",
                    "type": "synonym"
                },
                {
                    "name": "split hand/foot malformation type 1 with sensorineural hearing loss",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DLX5",
                    "type": "recommended"
                },
                {
                    "name": "DLX5",
                    "type": "synonym"
                },
                {
                    "name": "SHFM1D",
                    "type": "synonym"
                },
                {
                    "name": "SHFM1",
                    "type": "synonym"
                }
            ],
            "record_id": "P56178-1",
            "evidence": [
                {
                    "id": "220600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/220600"
                },
                {
                    "id": "0090024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090024"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50575-1",
            "uniprot_ac": "P50575",
            "uniprot_id": "DLX5_RAT",
            "refseq_ac": "NP_037075",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein DLX-5",
                    "type": "recommended"
                },
                {
                    "name": "DLX-3",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein DLX-3",
                    "type": "synonym"
                },
                {
                    "name": "RDLX",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein DLX-3",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein DLX-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dlx5",
                    "type": "recommended"
                },
                {
                    "name": "Dlx5",
                    "type": "synonym"
                },
                {
                    "name": "RDLX",
                    "type": "synonym"
                }
            ],
            "record_id": "P50575-1",
            "evidence": [
                {
                    "id": "0090024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090024"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20009-1",
            "uniprot_ac": "P20009",
            "uniprot_id": "DLL_DROME",
            "refseq_ac": "NP_523857",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeotic protein distal-less",
                    "type": "recommended"
                },
                {
                    "name": "CG3629-PA",
                    "type": "synonym"
                },
                {
                    "name": "Distal-less, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Distall-less",
                    "type": "synonym"
                },
                {
                    "name": "Dll-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein brista",
                    "type": "synonym"
                },
                {
                    "name": "brista",
                    "type": "synonym"
                },
                {
                    "name": "distal-less",
                    "type": "synonym"
                },
                {
                    "name": "distalless",
                    "type": "synonym"
                },
                {
                    "name": "distallless",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of Arp",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dll",
                    "type": "recommended"
                },
                {
                    "name": "2.7",
                    "type": "synonym"
                },
                {
                    "name": "Art",
                    "type": "synonym"
                },
                {
                    "name": "BR",
                    "type": "synonym"
                },
                {
                    "name": "Ba",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:LP01770",
                    "type": "synonym"
                },
                {
                    "name": "CG3629",
                    "type": "synonym"
                },
                {
                    "name": "DLL",
                    "type": "synonym"
                },
                {
                    "name": "Dll",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3629",
                    "type": "synonym"
                },
                {
                    "name": "E(Arp)",
                    "type": "synonym"
                },
                {
                    "name": "En(Arp)",
                    "type": "synonym"
                },
                {
                    "name": "dll",
                    "type": "synonym"
                },
                {
                    "name": "l(2)01092",
                    "type": "synonym"
                },
                {
                    "name": "l(2)387",
                    "type": "synonym"
                }
            ],
            "record_id": "P20009-1",
            "evidence": [
                {
                    "id": "0090024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090024"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090024"
}