{
    "disease_id": "DOID:0110185",
    "recommended_name": {
        "id": "DOID:0110185",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110185",
        "name": "Charcot-Marie-Tooth disease type 4A",
        "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110185",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110185",
            "name": "CMT4A",
            "description": ""
        },
        {
            "id": "DOID:0110185",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110185",
            "name": "Charcot-Marie-Tooth neuropathy type 4A",
            "description": ""
        },
        {
            "id": "DOID:0110185",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110185",
            "name": "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A",
            "description": ""
        },
        {
            "id": "MONDO:0008961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008961",
            "name": "Charcot-Marie-Tooth disease type 4A",
            "description": "Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities."
        },
        {
            "id": "MONDO:0008961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008961",
            "name": "CMT4A",
            "description": ""
        },
        {
            "id": "MONDO:0008961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008961",
            "name": "Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1",
            "description": ""
        },
        {
            "id": "MONDO:0008961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008961",
            "name": "GDAP1 Charcot-Marie-Tooth disease type 4",
            "description": ""
        },
        {
            "id": "MONDO:0008961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008961",
            "name": "Charcot Marie Tooth disease type 4A",
            "description": ""
        },
        {
            "id": "MONDO:0008961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008961",
            "name": "Charcot-Marie-Tooth disease, type 4A",
            "description": ""
        },
        {
            "id": "MIM:214400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/214400",
            "name": "Charcot-Marie-Tooth disease, demyelinating, type 4A",
            "description": "Charcot-Marie-Tooth disease, demyelinating, type 4A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110185"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110185",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110185",
            "categories": []
        },
        {
            "id": "MONDO:0008961",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008961",
            "categories": []
        },
        {
            "id": "MIM:214400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/214400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O88741-1",
            "uniprot_ac": "O88741",
            "uniprot_id": "GDAP1_MOUSE",
            "refseq_ac": "NP_034397",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ganglioside-induced differentiation-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "GDAP1",
                    "type": "synonym"
                },
                {
                    "name": "ganglioside-induced differentiation-associated protein 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gdap1",
                    "type": "recommended"
                },
                {
                    "name": "Gdap1",
                    "type": "synonym"
                }
            ],
            "record_id": "O88741-1",
            "evidence": [
                {
                    "id": "0110185",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110185"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TB36-1",
            "uniprot_ac": "Q8TB36",
            "uniprot_id": "GDAP1_HUMAN",
            "refseq_ac": "NP_001035808",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ganglioside-induced differentiation-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Charcot-Marie-Tooth neuropathy 4A",
                    "type": "synonym"
                },
                {
                    "name": "GDAP1",
                    "type": "synonym"
                },
                {
                    "name": "ganglioside-induced differentiation-associated protein 1 isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GDAP1",
                    "type": "recommended"
                },
                {
                    "name": "CMT4A",
                    "type": "synonym"
                },
                {
                    "name": "CMT4",
                    "type": "synonym"
                },
                {
                    "name": "CMTRIA",
                    "type": "synonym"
                },
                {
                    "name": "GDAP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TB36-1",
            "evidence": [
                {
                    "id": "214400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/214400"
                },
                {
                    "id": "0110185",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110185"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A5X7-1",
            "uniprot_ac": "D4A5X7",
            "uniprot_id": "D4A5X7_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ganglioside-induced differentiation-associated protein 1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Gdap1",
                    "type": "recommended"
                }
            ],
            "record_id": "D4A5X7-1",
            "evidence": [
                {
                    "id": "0110185",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110185"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VRJ3-1",
            "uniprot_ac": "Q9VRJ3",
            "uniprot_id": "Q9VRJ3_DROME",
            "refseq_ac": "NP_647945",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4623-PA",
                    "type": "synonym"
                },
                {
                    "name": "GDAP1 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Gdap1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Gdap1-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gdap1",
                    "type": "recommended"
                },
                {
                    "name": "CG4623",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4623",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4623",
                    "type": "synonym"
                },
                {
                    "name": "GDAP1",
                    "type": "synonym"
                },
                {
                    "name": "Gdap1",
                    "type": "synonym"
                },
                {
                    "name": "Gdap",
                    "type": "synonym"
                },
                {
                    "name": "dGdap1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VRJ3-1",
            "evidence": [
                {
                    "id": "0110185",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110185"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110185"
}