{
    "disease_id": "DOID:0110205",
    "recommended_name": {
        "id": "DOID:0110205",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110205",
        "name": "Charcot-Marie-Tooth disease dominant intermediate E",
        "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32."
    },
    "synonyms": [
        {
            "id": "DOID:0110205",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110205",
            "name": "CMTDIE",
            "description": ""
        },
        {
            "id": "DOID:0110205",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110205",
            "name": "Charcot-Marie-Tooth disease-nephropathy syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110205",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110205",
            "name": "Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis",
            "description": ""
        },
        {
            "id": "DOID:0110205",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110205",
            "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type E",
            "description": ""
        },
        {
            "id": "MONDO:0013758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013758",
            "name": "Charcot-Marie-Tooth disease dominant intermediate E",
            "description": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterized by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown."
        },
        {
            "id": "MONDO:0013758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013758",
            "name": "CMTDIE",
            "description": ""
        },
        {
            "id": "MONDO:0013758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013758",
            "name": "Charcot-Marie-Tooth disease dominant intermediate E",
            "description": ""
        },
        {
            "id": "MONDO:0013758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013758",
            "name": "Charcot-Marie-Tooth disease dominant intermediate type E",
            "description": ""
        },
        {
            "id": "MONDO:0013758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013758",
            "name": "Charcot-Marie-Tooth disease, dominant Intermediate type E",
            "description": ""
        },
        {
            "id": "MONDO:0013758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013758",
            "name": "Charcot-Marie-Tooth disease-nephropathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013758",
            "name": "Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis",
            "description": ""
        },
        {
            "id": "MONDO:0013758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013758",
            "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type E",
            "description": ""
        },
        {
            "id": "MONDO:0013758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013758",
            "name": "Charcot-Marie-Tooth disease - nephropathy",
            "description": ""
        },
        {
            "id": "MONDO:0013758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013758",
            "name": "Charcot-Marie-Tooth disease, dominant intermediate E",
            "description": ""
        },
        {
            "id": "MIM:614455",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614455",
            "name": "Charcot-Marie-Tooth disease, dominant intermediate E",
            "description": "Charcot-Marie-Tooth disease, dominant intermediate E"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110205"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110205",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110205",
            "categories": []
        },
        {
            "id": "MONDO:0013758",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013758",
            "categories": []
        },
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            "id": "MIM:614455",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614455",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0ACD6B5E5",
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            "refseq_ac": "XP_001920056",
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            "species": [
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
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                }
            ],
            "protein_names": [
                {
                    "name": "FH2 domain-containing protein 1",
                    "type": "synonym"
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                    "name": "fhdc1",
                    "type": "recommended"
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                    "type": "synonym"
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                },
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            "glycoprotein": "yes",
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                    "name": "Mus musculus",
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                }
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                    "name": "2610204M08Rik",
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                    "id": "0110205",
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            "glycoprotein": "yes",
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                }
            ],
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                    "name": "FH2 domain-containing protein 1",
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            ],
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                    "name": "Fhdc1",
                    "type": "recommended"
                },
                {
                    "name": "6330505N24Rik",
                    "type": "synonym"
                },
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                    "name": "Fhdc1",
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                    "name": "Gm126",
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                },
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                    "name": "Inf1",
                    "type": "synonym"
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                    "id": "0110205",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110205"
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            "uniprot_ac": "Q27J81",
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                    "type": "recommended"
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                    "name": "Rattus norvegicus",
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            ],
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                    "name": "Inverted formin-2",
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                    "type": "recommended"
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                    "id": "0110205",
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                    "name": "Drosophila melanogaster",
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                    "name": "FHDC1",
                    "type": "recommended"
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                    "name": "FHDC1",
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                    "id": "0110205",
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            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110205"
}