{
    "disease_id": "DOID:0110198",
    "recommended_name": {
        "id": "DOID:0110198",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110198",
        "name": "Charcot-Marie-Tooth disease recessive intermediate C",
        "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0110198",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110198",
            "name": "CMTRIC",
            "description": ""
        },
        {
            "id": "DOID:0110198",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110198",
            "name": "RI-CMT type C",
            "description": ""
        },
        {
            "id": "DOID:0110198",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110198",
            "name": "RI-CMTC",
            "description": ""
        },
        {
            "id": "DOID:0110198",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110198",
            "name": "autosomal recessive intermediate Charcot-Marie-Tooth disease type C",
            "description": ""
        },
        {
            "id": "MONDO:0014154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014154",
            "name": "Charcot-Marie-Tooth disease recessive intermediate C",
            "description": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy."
        },
        {
            "id": "MONDO:0014154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014154",
            "name": "CMTRIC",
            "description": ""
        },
        {
            "id": "MONDO:0014154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014154",
            "name": "Charcot-Marie-Tooth disease caused by mutation in PLEKHG5",
            "description": ""
        },
        {
            "id": "MONDO:0014154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014154",
            "name": "Charcot-Marie-Tooth disease recessive intermediate type C",
            "description": ""
        },
        {
            "id": "MONDO:0014154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014154",
            "name": "Charcot-Marie-Tooth disease, recessive Intermediate type C",
            "description": ""
        },
        {
            "id": "MONDO:0014154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014154",
            "name": "PLEKHG5 Charcot-Marie-Tooth disease",
            "description": ""
        },
        {
            "id": "MONDO:0014154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014154",
            "name": "RI-CMT type C",
            "description": ""
        },
        {
            "id": "MONDO:0014154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014154",
            "name": "RI-CMTC",
            "description": ""
        },
        {
            "id": "MONDO:0014154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014154",
            "name": "autosomal recessive intermediate Charcot-Marie-Tooth disease type C",
            "description": ""
        },
        {
            "id": "MONDO:0014154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014154",
            "name": "Charcot-Marie-Tooth disease, recessive intermediate C",
            "description": ""
        },
        {
            "id": "MIM:615376",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615376",
            "name": "Charcot-Marie-Tooth disease, recessive intermediate C",
            "description": "Charcot-Marie-Tooth disease, recessive intermediate C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110198"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110198",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110198",
            "categories": []
        },
        {
            "id": "MONDO:0014154",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014154",
            "categories": []
        },
        {
            "id": "MIM:615376",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615376",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B6G0-1",
            "uniprot_ac": "A0ACD6B6G0",
            "uniprot_id": "A0ACD6B6G0_DANRE",
            "refseq_ac": "XP_009304320",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pleckstrin homology domain-containing family G member 5 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain-containing family G member 5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "plekhg5a",
                    "type": "recommended"
                },
                {
                    "name": "plekhg5a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B6G0-1",
            "evidence": [
                {
                    "id": "0110198",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110198"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66T02-1",
            "uniprot_ac": "Q66T02",
            "uniprot_id": "PKHG5_MOUSE",
            "refseq_ac": "NP_001272928",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pleckstrin homology domain-containing family G member 5",
                    "type": "recommended"
                },
                {
                    "name": "PH domain-containing family G member 5",
                    "type": "synonym"
                },
                {
                    "name": "RhoA-specific guanine exchange factor SYX1",
                    "type": "synonym"
                },
                {
                    "name": "RhoA-specific guanine exchange factor SYX2",
                    "type": "synonym"
                },
                {
                    "name": "SYX",
                    "type": "synonym"
                },
                {
                    "name": "Synectin-binding RhoA exchange factor",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain-containing family G member 5 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "synectin-binding RhoA exchange factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plekhg5",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa0720",
                    "type": "synonym"
                },
                {
                    "name": "Plekhg5",
                    "type": "synonym"
                },
                {
                    "name": "Syx",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66T02-1",
            "evidence": [
                {
                    "id": "0110198",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110198"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94827-5",
            "uniprot_ac": "O94827",
            "uniprot_id": "PKHG5_HUMAN",
            "refseq_ac": "NP_001036129",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pleckstrin homology domain-containing family G member 5",
                    "type": "recommended"
                },
                {
                    "name": "GEF720",
                    "type": "synonym"
                },
                {
                    "name": "Guanine nucleotide exchange factor 720",
                    "type": "synonym"
                },
                {
                    "name": "NFkB activating protein",
                    "type": "synonym"
                },
                {
                    "name": "PH domain-containing family G member 5",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide exchange factor 720",
                    "type": "synonym"
                },
                {
                    "name": "novel PH domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain containing, family G (with RhoGef domain) member 5",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain-containing family G member 5 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain-containing family G member 5",
                    "type": "synonym"
                },
                {
                    "name": "synectin-binding guanine exchange factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLEKHG5",
                    "type": "recommended"
                },
                {
                    "name": "ARHGEF45",
                    "type": "synonym"
                },
                {
                    "name": "CMTRIC",
                    "type": "synonym"
                },
                {
                    "name": "DSMA4",
                    "type": "synonym"
                },
                {
                    "name": "GEF720",
                    "type": "synonym"
                },
                {
                    "name": "HMNR4",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0720",
                    "type": "synonym"
                },
                {
                    "name": "PLEKHG5",
                    "type": "synonym"
                },
                {
                    "name": "Syx",
                    "type": "synonym"
                },
                {
                    "name": "Tech",
                    "type": "synonym"
                }
            ],
            "record_id": "O94827-5",
            "evidence": [
                {
                    "id": "615376",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615376"
                },
                {
                    "id": "0110198",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110198"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6RFZ7-1",
            "uniprot_ac": "Q6RFZ7",
            "uniprot_id": "PKHG5_RAT",
            "refseq_ac": "NP_958429",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pleckstrin homology domain-containing family G member 5",
                    "type": "recommended"
                },
                {
                    "name": "Neuronal RhoA GEF protein",
                    "type": "synonym"
                },
                {
                    "name": "PH domain-containing family G member 5",
                    "type": "synonym"
                },
                {
                    "name": "Transcript highly enriched in cortex and hippocampus",
                    "type": "synonym"
                },
                {
                    "name": "neuronal RhoA GEF protein",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain containing, family G (with RhoGef domain) member 5",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain-containing family G member 5 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain-containing family G member 5",
                    "type": "synonym"
                },
                {
                    "name": "transcript highly enriched in cortex and hippocampus",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plekhg5",
                    "type": "recommended"
                },
                {
                    "name": "Plekhg5",
                    "type": "synonym"
                },
                {
                    "name": "Tech",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6RFZ7-1",
            "evidence": [
                {
                    "id": "0110198",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110198"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VW85-1",
            "uniprot_ac": "Q9VW85",
            "uniprot_id": "Q9VW85_DROME",
            "refseq_ac": "NP_649182",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DH domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG42674-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG13811",
                    "type": "recommended"
                },
                {
                    "name": "CG13812",
                    "type": "recommended"
                },
                {
                    "name": "CG7323",
                    "type": "recommended"
                },
                {
                    "name": "CG13811",
                    "type": "synonym"
                },
                {
                    "name": "CG13812",
                    "type": "synonym"
                },
                {
                    "name": "CG32223",
                    "type": "synonym"
                },
                {
                    "name": "CG42348",
                    "type": "synonym"
                },
                {
                    "name": "CG42674",
                    "type": "synonym"
                },
                {
                    "name": "CG7323",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42674",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42674",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VW85-1",
            "evidence": [
                {
                    "id": "0110198",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110198"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110198"
}