{
    "disease_id": "DOID:0110212",
    "recommended_name": {
        "id": "DOID:0110212",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110212",
        "name": "Charcot-Marie-Tooth disease X-linked recessive 4",
        "description": "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26."
    },
    "synonyms": [
        {
            "id": "DOID:0110212",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110212",
            "name": "axonal motor sensory neuropathy with deafness and mental retardation",
            "description": ""
        },
        {
            "id": "DOID:0110212",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110212",
            "name": "CMT4X",
            "description": ""
        },
        {
            "id": "DOID:0110212",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110212",
            "name": "CMTX4",
            "description": ""
        },
        {
            "id": "DOID:0110212",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110212",
            "name": "Cowchock syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110212",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110212",
            "name": "NADMR",
            "description": ""
        },
        {
            "id": "DOID:0110212",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110212",
            "name": "NAMSD",
            "description": ""
        },
        {
            "id": "DOID:0110212",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110212",
            "name": "X-linked Charcot-Marie-Tooth disease type 4",
            "description": ""
        },
        {
            "id": "DOID:0110212",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110212",
            "name": "Charcot-Marie-Tooth disease with deafness and mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010689",
            "name": "Charcot-Marie-Tooth disease X-linked recessive 4",
            "description": "X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype."
        },
        {
            "id": "MONDO:0010689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010689",
            "name": "CMT4X",
            "description": ""
        },
        {
            "id": "MONDO:0010689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010689",
            "name": "CMTX 4",
            "description": ""
        },
        {
            "id": "MONDO:0010689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010689",
            "name": "CMTX4",
            "description": ""
        },
        {
            "id": "MONDO:0010689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010689",
            "name": "COWCK",
            "description": ""
        },
        {
            "id": "MONDO:0010689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010689",
            "name": "Charcot-Marie-Tooth disease X-linked recessive type 4",
            "description": ""
        },
        {
            "id": "MONDO:0010689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010689",
            "name": "Charcot-Marie-Tooth disease with deafness and intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010689",
            "name": "Charcot-Marie-Tooth disease with deafness and mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010689",
            "name": "Charcot-Marie-Tooth disease, X-linked recessive, 4",
            "description": ""
        },
        {
            "id": "MONDO:0010689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010689",
            "name": "Cowchock syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010689",
            "name": "NADMR",
            "description": ""
        },
        {
            "id": "MONDO:0010689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010689",
            "name": "NAMSD",
            "description": ""
        },
        {
            "id": "MONDO:0010689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010689",
            "name": "X-linked Charcot-Marie-Tooth disease type 4",
            "description": ""
        },
        {
            "id": "MONDO:0010689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010689",
            "name": "axonal motor sensory neuropathy with deafness and intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010689",
            "name": "cowchock syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010689",
            "name": "neuropathy, axonal motor-sensory with deafness and intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010689",
            "name": "neuropathy, axonal motor-sensory with deafness and mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010689",
            "name": "neuropathy, axonal motor-sensory, with deafness and mental retardation",
            "description": ""
        },
        {
            "id": "MIM:310490",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/310490",
            "name": "Charcot-Marie-Tooth disease, X-linked recessive, 4, with or without cerebellar ataxia",
            "description": "Charcot-Marie-Tooth disease, X-linked recessive, 4, with or without cerebellar ataxia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110212"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110212",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110212",
            "categories": []
        },
        {
            "id": "MONDO:0010689",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010689",
            "categories": []
        },
        {
            "id": "MIM:310490",
            "database": "MIM",
            "url": "https://www.omim.org/entry/310490",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z0X1-1",
            "uniprot_ac": "Q9Z0X1",
            "uniprot_id": "AIFM1_MOUSE",
            "refseq_ac": "NP_001277293",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apoptosis-inducing factor 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.6.99.-",
                    "type": "synonym"
                },
                {
                    "name": "Programmed cell death protein 8",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-inducing factor 1, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-inducing factor 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "harlequin",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aifm1",
                    "type": "recommended"
                },
                {
                    "name": "AIFsh2",
                    "type": "synonym"
                },
                {
                    "name": "AIF",
                    "type": "synonym"
                },
                {
                    "name": "Aifm1",
                    "type": "synonym"
                },
                {
                    "name": "Aif",
                    "type": "synonym"
                },
                {
                    "name": "Hq",
                    "type": "synonym"
                },
                {
                    "name": "Pdcd8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0X1-1",
            "evidence": [
                {
                    "id": "0110212",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110212"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95831-1",
            "uniprot_ac": "O95831",
            "uniprot_id": "AIFM1_HUMAN",
            "refseq_ac": "NP_001124318",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apoptosis-inducing factor 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.6.99.-",
                    "type": "synonym"
                },
                {
                    "name": "Programmed cell death protein 8",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-inducing factor 1, mitochondrial isoform AIFsh",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-inducing factor 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-inducing factor, mitochondrion-associated, 1",
                    "type": "synonym"
                },
                {
                    "name": "auditory neuropathy, X-linked recessive 1",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death 8 (apoptosis-inducing factor)",
                    "type": "synonym"
                },
                {
                    "name": "striatal apoptosis-inducing factor",
                    "type": "synonym"
                },
                {
                    "name": "testicular secretory protein Li 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AIFM1",
                    "type": "recommended"
                },
                {
                    "name": "AIFM1",
                    "type": "synonym"
                },
                {
                    "name": "AIF",
                    "type": "synonym"
                },
                {
                    "name": "AUNX1",
                    "type": "synonym"
                },
                {
                    "name": "CMT2D",
                    "type": "synonym"
                },
                {
                    "name": "CMTX4",
                    "type": "synonym"
                },
                {
                    "name": "COWCK",
                    "type": "synonym"
                },
                {
                    "name": "COXPD6",
                    "type": "synonym"
                },
                {
                    "name": "DFNX5",
                    "type": "synonym"
                },
                {
                    "name": "NADMR",
                    "type": "synonym"
                },
                {
                    "name": "NAMSD",
                    "type": "synonym"
                },
                {
                    "name": "PDCD8",
                    "type": "synonym"
                },
                {
                    "name": "SEMDHL",
                    "type": "synonym"
                }
            ],
            "record_id": "O95831-1",
            "evidence": [
                {
                    "id": "310490",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/310490"
                },
                {
                    "id": "0110212",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110212"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JM53-1",
            "uniprot_ac": "Q9JM53",
            "uniprot_id": "AIFM1_RAT",
            "refseq_ac": "NP_112646",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apoptosis-inducing factor 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.6.99.-",
                    "type": "synonym"
                },
                {
                    "name": "Programmed cell death protein 8",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-inducing factor 1, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-inducing factor 1, mitochondrial-like",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-inducing factor 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-inducing factor, mitochondrion-associated 1",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death 8 (apoptosis-inducing factor)",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aifm1",
                    "type": "recommended"
                },
                {
                    "name": "Aifm1",
                    "type": "synonym"
                },
                {
                    "name": "Aif",
                    "type": "synonym"
                },
                {
                    "name": "Pdcd8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JM53-1",
            "evidence": [
                {
                    "id": "0110212",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110212"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQ79-2",
            "uniprot_ac": "Q9VQ79",
            "uniprot_id": "AIFM1_DROME",
            "refseq_ac": "NP_608649",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative apoptosis-inducing factor 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.6.99.-",
                    "type": "synonym"
                },
                {
                    "name": "AIF-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG7263-PA",
                    "type": "synonym"
                },
                {
                    "name": "DmAIF",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis inducing factor, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis inducing factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AIF",
                    "type": "recommended"
                },
                {
                    "name": "AIF",
                    "type": "synonym"
                },
                {
                    "name": "CG7263",
                    "type": "synonym"
                },
                {
                    "name": "DmAIF",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7263",
                    "type": "synonym"
                },
                {
                    "name": "SD03428p",
                    "type": "synonym"
                },
                {
                    "name": "aif",
                    "type": "synonym"
                },
                {
                    "name": "dAIF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQ79-2",
            "evidence": [
                {
                    "id": "0110212",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110212"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110212"
}