{
    "disease_id": "DOID:0110151",
    "recommended_name": {
        "id": "DOID:0110151",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110151",
        "name": "Charcot-Marie-Tooth disease type 1C",
        "description": "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110151",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110151",
            "name": "CMT slow nerve conduction type C",
            "description": ""
        },
        {
            "id": "DOID:0110151",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110151",
            "name": "CMT1C",
            "description": ""
        },
        {
            "id": "DOID:0110151",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110151",
            "name": "Charcot-Marie-Tooth neuropathy type 1C",
            "description": ""
        },
        {
            "id": "DOID:0110151",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110151",
            "name": "HMSN IC",
            "description": ""
        },
        {
            "id": "DOID:0110151",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110151",
            "name": "HMSN1C",
            "description": ""
        },
        {
            "id": "DOID:0110151",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110151",
            "name": "neuropathy hereditary motor and sensory type 1C",
            "description": ""
        },
        {
            "id": "MONDO:0010995",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010995",
            "name": "Charcot-Marie-Tooth disease type 1C",
            "description": "Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene."
        },
        {
            "id": "MONDO:0010995",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010995",
            "name": "CMT1C",
            "description": ""
        },
        {
            "id": "MONDO:0010995",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010995",
            "name": "Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF",
            "description": ""
        },
        {
            "id": "MONDO:0010995",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010995",
            "name": "Charcot-Marie-Tooth disease, type 1C",
            "description": ""
        },
        {
            "id": "MONDO:0010995",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010995",
            "name": "HMSN1C",
            "description": ""
        },
        {
            "id": "MONDO:0010995",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010995",
            "name": "LITAF Charcot-Marie-Tooth disease type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010995",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010995",
            "name": "CMT 1C",
            "description": ""
        },
        {
            "id": "MONDO:0010995",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010995",
            "name": "Charcot Marie Tooth disease type 1C",
            "description": ""
        },
        {
            "id": "MONDO:0010995",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010995",
            "name": "Charcot-Marie-Tooth disease, demyelinating, type 1C",
            "description": ""
        },
        {
            "id": "MIM:601098",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601098",
            "name": "Charcot-Marie-Tooth disease, demyelinating, type 1C",
            "description": "Charcot-Marie-Tooth disease, demyelinating, type 1C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110151"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110151",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110151",
            "categories": []
        },
        {
            "id": "MONDO:0010995",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010995",
            "categories": []
        },
        {
            "id": "MIM:601098",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601098",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6GMG8-1",
            "uniprot_ac": "Q6GMG8",
            "uniprot_id": "LITAF_DANRE",
            "refseq_ac": "NP_001002184",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipopolysaccharide-induced tumor necrosis factor-alpha factor homolog",
                    "type": "recommended"
                },
                {
                    "name": "LPS-induced TNF-alpha factor homolog",
                    "type": "synonym"
                },
                {
                    "name": "lipopolysaccharide-induced tumor necrosis factor-alpha factor homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "litaf",
                    "type": "recommended"
                },
                {
                    "name": "fb12g04",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd5018",
                    "type": "synonym"
                },
                {
                    "name": "litaf",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb12g04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:91882",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6GMG8-1",
            "evidence": [
                {
                    "id": "0110151",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110151"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JLJ0-1",
            "uniprot_ac": "Q9JLJ0",
            "uniprot_id": "LITAF_MOUSE",
            "refseq_ac": "NP_064364",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipopolysaccharide-induced tumor necrosis factor-alpha factor homolog",
                    "type": "recommended"
                },
                {
                    "name": "Estrogen-enhanced transcript protein",
                    "type": "synonym"
                },
                {
                    "name": "LITAF-like protein",
                    "type": "synonym"
                },
                {
                    "name": "LPS-induced TNF-alpha factor homolog",
                    "type": "synonym"
                },
                {
                    "name": "NEDD4 WW domain-binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Nedd4 WW domain-binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "estrogen-enhanced transcript protein",
                    "type": "synonym"
                },
                {
                    "name": "lipopolysaccharide-induced tumor necrosis factor-alpha factor homolog",
                    "type": "synonym"
                },
                {
                    "name": "mEET",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Litaf",
                    "type": "recommended"
                },
                {
                    "name": "3222402J11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Litaf",
                    "type": "synonym"
                },
                {
                    "name": "N4WBP3",
                    "type": "synonym"
                },
                {
                    "name": "N4wbp3",
                    "type": "synonym"
                },
                {
                    "name": "TBX1",
                    "type": "synonym"
                },
                {
                    "name": "Tbx1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JLJ0-1",
            "evidence": [
                {
                    "id": "0110151",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110151"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99732-1",
            "uniprot_ac": "Q99732",
            "uniprot_id": "LITAF_HUMAN",
            "refseq_ac": "NP_001129944",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipopolysaccharide-induced tumor necrosis factor-alpha factor",
                    "type": "recommended"
                },
                {
                    "name": "LPS-induced TNF-alpha factor",
                    "type": "synonym"
                },
                {
                    "name": "Small integral membrane protein of lysosome/late endosome",
                    "type": "synonym"
                },
                {
                    "name": "lipopolysaccharide-induced TNF-alpha factor",
                    "type": "synonym"
                },
                {
                    "name": "lipopolysaccharide-induced tumor necrosis factor-alpha factor isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "lipopolysaccharide-induced tumor necrosis factor-alpha factor",
                    "type": "synonym"
                },
                {
                    "name": "p53-induced gene 7 protein",
                    "type": "synonym"
                },
                {
                    "name": "small integral membrane protein of lysosome/late endosome",
                    "type": "synonym"
                },
                {
                    "name": "small integral membrane protein of the late endosome",
                    "type": "synonym"
                },
                {
                    "name": "tumor protein p53 inducible protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LITAF",
                    "type": "recommended"
                },
                {
                    "name": "LITAF",
                    "type": "synonym"
                },
                {
                    "name": "PIG7",
                    "type": "synonym"
                },
                {
                    "name": "SIMPLE",
                    "type": "synonym"
                },
                {
                    "name": "TP53I7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99732-1",
            "evidence": [
                {
                    "id": "601098",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601098"
                },
                {
                    "id": "0110151",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110151"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C0T0-1",
            "uniprot_ac": "P0C0T0",
            "uniprot_id": "LITAF_RAT",
            "refseq_ac": "NP_001099205",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipopolysaccharide-induced tumor necrosis factor-alpha factor homolog",
                    "type": "recommended"
                },
                {
                    "name": "Eet-1",
                    "type": "synonym"
                },
                {
                    "name": "Estrogen-enhanced transcript protein 1",
                    "type": "synonym"
                },
                {
                    "name": "LPS-induced TN factor",
                    "type": "synonym"
                },
                {
                    "name": "LPS-induced TNF-alpha factor homolog",
                    "type": "synonym"
                },
                {
                    "name": "estrogen-enhanced transcript protein 1",
                    "type": "synonym"
                },
                {
                    "name": "estrogen-responsive uterine transcript",
                    "type": "synonym"
                },
                {
                    "name": "lipopolysaccharide-induced tumor necrosis factor-alpha factor homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Litaf",
                    "type": "recommended"
                },
                {
                    "name": "EET-1",
                    "type": "synonym"
                },
                {
                    "name": "Litaf",
                    "type": "synonym"
                },
                {
                    "name": "Pig7",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C0T0-1",
            "evidence": [
                {
                    "id": "0110151",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110151"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W217-1",
            "uniprot_ac": "Q9W217",
            "uniprot_id": "Q9W217_DROME",
            "refseq_ac": "NP_001303360",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "LITAF domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG30269-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG30269",
                    "type": "recommended"
                },
                {
                    "name": "CG13515",
                    "type": "synonym"
                },
                {
                    "name": "CG30269",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG30269",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG30269",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W217-1",
            "evidence": [
                {
                    "id": "0110151",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110151"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4K8A8-1",
            "uniprot_ac": "A0A0B4K8A8",
            "uniprot_id": "A0A0B4K8A8_DROME",
            "refseq_ac": "NP_001246468",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "LITAF domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG4250-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BcDNA:RH52355",
                    "type": "recommended"
                },
                {
                    "name": "Dmel\\CG4250",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RH52355",
                    "type": "synonym"
                },
                {
                    "name": "CG4250",
                    "type": "synonym"
                },
                {
                    "name": "CT13934",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4250",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4250",
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                }
            ],
            "record_id": "A0A0B4K8A8-1",
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                {
                    "id": "0110151",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110151"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W221-1",
            "uniprot_ac": "Q9W221",
            "uniprot_id": "Q9W221_DROME",
            "refseq_ac": "NP_001246465",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "LITAF domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG13510-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Dmel\\CG13510",
                    "type": "recommended"
                },
                {
                    "name": "CG13510",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13510",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13510",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W221-1",
            "evidence": [
                {
                    "id": "0110151",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110151"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8MME9-1",
            "uniprot_ac": "Q8MME9",
            "uniprot_id": "Q8MME9_DROME",
            "refseq_ac": "NP_726223",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "LITAF domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG30273-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "CG13515",
                    "type": "recommended"
                },
                {
                    "name": "CG13515",
                    "type": "synonym"
                },
                {
                    "name": "CG30273",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG30273",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG30273",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110151",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110151"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IRE5-1",
            "uniprot_ac": "Q8IRE5",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "LITAF domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG32280-PD",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BcDNA:GM08588",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GM08588",
                    "type": "synonym"
                },
                {
                    "name": "CG32280",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32280",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32280",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IRE5-1",
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                {
                    "id": "0110151",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110151"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1P0-1",
            "uniprot_ac": "Q9W1P0",
            "uniprot_id": "Q9W1P0_DROME",
            "refseq_ac": "NP_611801",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "LITAF domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG13559-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG13559",
                    "type": "recommended"
                },
                {
                    "name": "CG13559",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13559",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13559",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1P0-1",
            "evidence": [
                {
                    "id": "0110151",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110151"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2PE16-1",
            "uniprot_ac": "Q2PE16",
            "uniprot_id": "Q2PE16_DROME",
            "refseq_ac": "NP_001033966",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "LITAF domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG13516-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG13516",
                    "type": "recommended"
                },
                {
                    "name": "BP1036",
                    "type": "synonym"
                },
                {
                    "name": "CG13516",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13516",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13516",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2PE16-1",
            "evidence": [
                {
                    "id": "0110151",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110151"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110151"
}