{
    "disease_id": "DOID:0111735",
    "recommended_name": {
        "id": "DOID:0111735",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111735",
        "name": "X-linked deafness 4",
        "description": "An X-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that has_material_basis_in mutation in the SMPX gene on chromosome Xp22.12."
    },
    "synonyms": [
        {
            "id": "DOID:0111735",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111735",
            "name": "DFN6",
            "description": ""
        },
        {
            "id": "DOID:0111735",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111735",
            "name": "DFNX4",
            "description": ""
        },
        {
            "id": "DOID:0111735",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111735",
            "name": "X-linked progressive deafness 6",
            "description": ""
        },
        {
            "id": "DOID:0111735",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111735",
            "name": "nonsyndromic sensorineural progressive deafness 6",
            "description": ""
        },
        {
            "id": "MONDO:0010238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010238",
            "name": "hearing loss, X-linked 4",
            "description": "Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene."
        },
        {
            "id": "MONDO:0010238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010238",
            "name": "SMPX X-linked nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010238",
            "name": "X-linked nonsyndromic deafness caused by mutation in SMPX",
            "description": ""
        },
        {
            "id": "MONDO:0010238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010238",
            "name": "deafness, X-linked 4",
            "description": ""
        },
        {
            "id": "MONDO:0010238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010238",
            "name": "deafness, X-linked 4, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010238",
            "name": "deafness, X-linked type 4",
            "description": ""
        },
        {
            "id": "MONDO:0010238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010238",
            "name": "deafness, nonsyndromic sensorineural progressive 6",
            "description": ""
        },
        {
            "id": "MONDO:0010238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010238",
            "name": "DFNX4",
            "description": ""
        },
        {
            "id": "MIM:300066",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300066",
            "name": "Deafness, X-linked, 4",
            "description": "Deafness, X-linked, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111735"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111735",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111735",
            "categories": []
        },
        {
            "id": "MONDO:0010238",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010238",
            "categories": []
        },
        {
            "id": "MIM:300066",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300066",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9DC77-1",
            "uniprot_ac": "Q9DC77",
            "uniprot_id": "SMPX_MOUSE",
            "refseq_ac": "NP_001239520",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small muscular protein",
                    "type": "recommended"
                },
                {
                    "name": "Chisel protein",
                    "type": "synonym"
                },
                {
                    "name": "Stretch-responsive skeletal muscle protein",
                    "type": "synonym"
                },
                {
                    "name": "cardiac and skeletal muscle protein",
                    "type": "synonym"
                },
                {
                    "name": "chisel protein",
                    "type": "synonym"
                },
                {
                    "name": "small muscular protein",
                    "type": "synonym"
                },
                {
                    "name": "stretch-responsive skeletal muscle protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smpx",
                    "type": "recommended"
                },
                {
                    "name": "1010001C09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Csl",
                    "type": "synonym"
                },
                {
                    "name": "Smpx",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DC77-1",
            "evidence": [
                {
                    "id": "0111735",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111735"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UHP9-1",
            "uniprot_ac": "Q9UHP9",
            "uniprot_id": "SMPX_HUMAN",
            "refseq_ac": "NP_055147",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small muscular protein",
                    "type": "recommended"
                },
                {
                    "name": "Stretch-responsive skeletal muscle protein",
                    "type": "synonym"
                },
                {
                    "name": "deafness, X-linked 6, sensorineural",
                    "type": "synonym"
                },
                {
                    "name": "small muscular protein",
                    "type": "synonym"
                },
                {
                    "name": "stretch-responsive skeletal muscle protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMPX",
                    "type": "recommended"
                },
                {
                    "name": "Chisel",
                    "type": "synonym"
                },
                {
                    "name": "Csl",
                    "type": "synonym"
                },
                {
                    "name": "DFN6",
                    "type": "synonym"
                },
                {
                    "name": "DFNX4",
                    "type": "synonym"
                },
                {
                    "name": "MPD7",
                    "type": "synonym"
                },
                {
                    "name": "SMPX",
                    "type": "synonym"
                },
                {
                    "name": "SRMX",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UHP9-1",
            "evidence": [
                {
                    "id": "300066",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300066"
                },
                {
                    "id": "0111735",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111735"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q925F0-1",
            "uniprot_ac": "Q925F0",
            "uniprot_id": "SMPX_RAT",
            "refseq_ac": "NP_445847",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small muscular protein",
                    "type": "recommended"
                },
                {
                    "name": "Stretch-responsive skeletal muscle protein",
                    "type": "synonym"
                },
                {
                    "name": "small muscular protein",
                    "type": "synonym"
                },
                {
                    "name": "stretch-responsive skeletal muscle protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smpx",
                    "type": "recommended"
                },
                {
                    "name": "Smpx",
                    "type": "synonym"
                },
                {
                    "name": "Srmx",
                    "type": "synonym"
                }
            ],
            "record_id": "Q925F0-1",
            "evidence": [
                {
                    "id": "0111735",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111735"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111735"
}