{
    "disease_id": "DOID:0110201",
    "recommended_name": {
        "id": "DOID:0110201",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110201",
        "name": "Charcot-Marie-Tooth disease recessive intermediate A",
        "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110201",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110201",
            "name": "CMTRIA",
            "description": ""
        },
        {
            "id": "DOID:0110201",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110201",
            "name": "RI-CMTA",
            "description": ""
        },
        {
            "id": "DOID:0110201",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110201",
            "name": "Charcot-Marie-Tooth neuropathy recessive intermediate A",
            "description": ""
        },
        {
            "id": "DOID:0110201",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110201",
            "name": "autosomal recessive intermediate Charcot-Marie-Tooth disease type A",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "Charcot-Marie-Tooth disease recessive intermediate A",
            "description": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology."
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "CMTRIA",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "Charcot-Marie-Tooth disease caused by mutation in GDAP1",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "Charcot-Marie-Tooth disease recessive intermediate type A",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "Charcot-Marie-Tooth disease, recessive Intermediate type a",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "GDAP1 Charcot-Marie-Tooth disease",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "RI-CMT type A",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "RI-CMTA",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "autosomal recessive intermediate Charcot-Marie-Tooth disease type A",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "Charcot-Marie-Tooth disease, recessive intermediate A",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "Charcot-Marie-Tooth disease, recessive intermediate, A",
            "description": ""
        },
        {
            "id": "MIM:608340",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608340",
            "name": "Charcot-Marie-Tooth disease, recessive intermediate A",
            "description": "Charcot-Marie-Tooth disease, recessive intermediate A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110201"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110201",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110201",
            "categories": []
        },
        {
            "id": "MONDO:0012014",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "categories": []
        },
        {
            "id": "MIM:608340",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608340",
            "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": "0110201",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110201"
                }
            ]
        },
        {
            "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": "608340",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608340"
                },
                {
                    "id": "0110201",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110201"
                }
            ]
        },
        {
            "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": "0110201",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110201"
                }
            ]
        },
        {
            "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": "0110201",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110201"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110201"
}