{
    "disease_id": "DOID:0110193",
    "recommended_name": {
        "id": "DOID:0110193",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110193",
        "name": "Charcot-Marie-Tooth disease type 4F",
        "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110193",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110193",
            "name": "CMT4F",
            "description": ""
        },
        {
            "id": "MONDO:0013959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013959",
            "name": "Charcot-Marie-Tooth disease type 4F",
            "description": "Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones."
        },
        {
            "id": "MONDO:0013959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013959",
            "name": "CMT4F",
            "description": ""
        },
        {
            "id": "MONDO:0013959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013959",
            "name": "Charcot-Marie-Tooth disease type 4 caused by mutation in PRX",
            "description": ""
        },
        {
            "id": "MONDO:0013959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013959",
            "name": "Charcot-Marie-Tooth disease type 4 caused by mutation in Prx",
            "description": ""
        },
        {
            "id": "MONDO:0013959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013959",
            "name": "Charcot-Marie-Tooth disease, type 4F",
            "description": ""
        },
        {
            "id": "MONDO:0013959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013959",
            "name": "PRX Charcot-Marie-Tooth disease type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013959",
            "name": "Prx Charcot-Marie-Tooth disease type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013959",
            "name": "Charcot-Marie-Tooth disease, demyelinating, type 4F",
            "description": ""
        },
        {
            "id": "MIM:614895",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614895",
            "name": "Charcot-Marie-Tooth disease, demyelinating, type 4F",
            "description": "Charcot-Marie-Tooth disease, demyelinating, type 4F"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110193"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110193",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110193",
            "categories": []
        },
        {
            "id": "MONDO:0013959",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013959",
            "categories": []
        },
        {
            "id": "MIM:614895",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614895",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32T901-1",
            "uniprot_ac": "A0AB32T901",
            "uniprot_id": "A0AB32T901_DANRE",
            "refseq_ac": "NP_001429171",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Periaxin",
                    "type": "recommended"
                },
                {
                    "name": "periaxin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prx",
                    "type": "recommended"
                },
                {
                    "name": "fi18g02",
                    "type": "synonym"
                },
                {
                    "name": "im:7153437",
                    "type": "synonym"
                },
                {
                    "name": "prx",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-14c7.2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-14c7.3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi18g02",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T901-1",
            "evidence": [
                {
                    "id": "0110193",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110193"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O55103-1",
            "uniprot_ac": "O55103",
            "uniprot_id": "PRAX_MOUSE",
            "refseq_ac": "NP_062285",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Periaxin",
                    "type": "recommended"
                },
                {
                    "name": "periaxin isoform S",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prx",
                    "type": "recommended"
                },
                {
                    "name": "L-Periaxin",
                    "type": "synonym"
                },
                {
                    "name": "Prx",
                    "type": "synonym"
                }
            ],
            "record_id": "O55103-1",
            "evidence": [
                {
                    "id": "0110193",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110193"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BXM0-1",
            "uniprot_ac": "Q9BXM0",
            "uniprot_id": "PRAX_HUMAN",
            "refseq_ac": "NP_066007",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Periaxin",
                    "type": "recommended"
                },
                {
                    "name": "periaxin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRX",
                    "type": "recommended"
                },
                {
                    "name": "CMT4F",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1620",
                    "type": "synonym"
                },
                {
                    "name": "PRX",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BXM0-1",
            "evidence": [
                {
                    "id": "614895",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614895"
                },
                {
                    "id": "0110193",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110193"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63425-1",
            "uniprot_ac": "Q63425",
            "uniprot_id": "PRAX_RAT",
            "refseq_ac": "NP_076466",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Periaxin",
                    "type": "recommended"
                },
                {
                    "name": "periaxin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prx",
                    "type": "recommended"
                },
                {
                    "name": "Prx",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63425-1",
            "evidence": [
                {
                    "id": "0110193",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110193"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110193"
}