{
    "disease_id": "DOID:0110191",
    "recommended_name": {
        "id": "DOID:0110191",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110191",
        "name": "Charcot-Marie-Tooth disease type 4B1",
        "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2)."
    },
    "synonyms": [
        {
            "id": "DOID:0110191",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110191",
            "name": "CMT4B1",
            "description": ""
        },
        {
            "id": "DOID:0110191",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110191",
            "name": "Charcot-Marie-Tooth neuropathy type 4B1",
            "description": ""
        },
        {
            "id": "DOID:0110191",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110191",
            "name": "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1",
            "description": ""
        },
        {
            "id": "MONDO:0011066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011066",
            "name": "Charcot-Marie-Tooth disease type 4B1",
            "description": "Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus)."
        },
        {
            "id": "MONDO:0011066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011066",
            "name": "CMT4B1",
            "description": ""
        },
        {
            "id": "MONDO:0011066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011066",
            "name": "Charcot-Marie-Tooth disease type 4 caused by mutation in MTMR2",
            "description": ""
        },
        {
            "id": "MONDO:0011066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011066",
            "name": "Charcot-Marie-Tooth disease type 4B1",
            "description": ""
        },
        {
            "id": "MONDO:0011066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011066",
            "name": "MTMR2 Charcot-Marie-Tooth disease type 4",
            "description": ""
        },
        {
            "id": "MONDO:0011066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011066",
            "name": "CMT 4B",
            "description": ""
        },
        {
            "id": "MONDO:0011066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011066",
            "name": "CMT 4B1",
            "description": ""
        },
        {
            "id": "MONDO:0011066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011066",
            "name": "Charcot Marie Tooth disease type 4B1",
            "description": ""
        },
        {
            "id": "MONDO:0011066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011066",
            "name": "Charcot-Marie-Tooth disease, type 4B1",
            "description": ""
        },
        {
            "id": "MIM:601382",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601382",
            "name": "Charcot-Marie-Tooth disease, demyelinating, type 4B1",
            "description": "Charcot-Marie-Tooth disease, demyelinating, type 4B1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110191"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110191",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110191",
            "categories": []
        },
        {
            "id": "MONDO:0011066",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011066",
            "categories": []
        },
        {
            "id": "MIM:601382",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601382",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0JMK5-1",
            "uniprot_ac": "A0JMK5",
            "uniprot_id": "MTMR2_DANRE",
            "refseq_ac": "NP_571446",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.95",
                    "type": "synonym"
                },
                {
                    "name": "Myotubularin-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3-phosphate phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3-phosphate phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mtmr2",
                    "type": "recommended"
                },
                {
                    "name": "mtmr2",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-110k5.3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153915",
                    "type": "synonym"
                }
            ],
            "record_id": "A0JMK5-1",
            "evidence": [
                {
                    "id": "0110191",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110191"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58FYQ3-1",
            "uniprot_ac": "A0AC58FYQ3",
            "uniprot_id": "A0AC58FYQ3_DANRE",
            "refseq_ac": "XP_073762672",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.95",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin-related protein 1a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mtmr1a",
                    "type": "recommended"
                },
                {
                    "name": "mtmr1a",
                    "type": "synonym"
                },
                {
                    "name": "mtmr1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113282",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58FYQ3-1",
            "evidence": [
                {
                    "id": "0110191",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110191"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58I8Q3-1",
            "uniprot_ac": "A0AC58I8Q3",
            "uniprot_id": "A0AC58I8Q3_DANRE",
            "refseq_ac": "XP_073790617",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.95",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin-related protein 1b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mtmr1b",
                    "type": "recommended"
                },
                {
                    "name": "mtmr1b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi27f12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113186",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58I8Q3-1",
            "evidence": [
                {
                    "id": "0110191",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110191"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1N853-1",
            "uniprot_ac": "A0A8M1N853",
            "uniprot_id": "A0A8M1N853_DANRE",
            "refseq_ac": "NP_001032773",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myotubularin",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.95",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3-phosphate phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mtm1",
                    "type": "recommended"
                },
                {
                    "name": "fb19c01",
                    "type": "synonym"
                },
                {
                    "name": "im:6903724",
                    "type": "synonym"
                },
                {
                    "name": "mtm1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb19c01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:123266",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N853-1",
            "evidence": [
                {
                    "id": "0110191",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110191"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z2D1-1",
            "uniprot_ac": "Q9Z2D1",
            "uniprot_id": "MTMR2_MOUSE",
            "refseq_ac": "NP_076347",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.95",
                    "type": "synonym"
                },
                {
                    "name": "Myotubularin-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3-phosphate phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3-phosphate phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mtmr2",
                    "type": "recommended"
                },
                {
                    "name": "6030445P13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mtmr2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z2D1-1",
            "evidence": [
                {
                    "id": "0110191",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110191"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z2C4-1",
            "uniprot_ac": "Q9Z2C4",
            "uniprot_id": "MTMR1_MOUSE",
            "refseq_ac": "NP_001300631",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol-3-phosphate phosphatase MTMR1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.95",
                    "type": "synonym"
                },
                {
                    "name": "Myotubularin-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3-phosphate phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3-phosphate phosphatase MTMR1 isoform D",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3-phosphate phosphatase MTMR1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3-phosphate phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mtmr1",
                    "type": "recommended"
                },
                {
                    "name": "Mtmr1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z2C4-1",
            "evidence": [
                {
                    "id": "0110191",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110191"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z2C5-1",
            "uniprot_ac": "Q9Z2C5",
            "uniprot_id": "MTM1_MOUSE",
            "refseq_ac": "NP_001157662",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myotubularin",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.95",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3-phosphate phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3-phosphate phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mtm1",
                    "type": "recommended"
                },
                {
                    "name": "Mtm1",
                    "type": "synonym"
                },
                {
                    "name": "Mtm",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA4176",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z2C5-1",
            "evidence": [
                {
                    "id": "0110191",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110191"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13614-1",
            "uniprot_ac": "Q13614",
            "uniprot_id": "MTMR2_HUMAN",
            "refseq_ac": "NP_001230500",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.95",
                    "type": "synonym"
                },
                {
                    "name": "Myotubularin-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3-phosphate phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3-phosphate phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide-3-phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MTMR2",
                    "type": "recommended"
                },
                {
                    "name": "CMT4B1",
                    "type": "synonym"
                },
                {
                    "name": "CMT4B",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1073",
                    "type": "synonym"
                },
                {
                    "name": "MTMR2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13614-1",
            "evidence": [
                {
                    "id": "601382",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601382"
                },
                {
                    "id": "0110191",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110191"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47147-1",
            "uniprot_ac": "P47147",
            "uniprot_id": "YMR1_YEAST",
            "refseq_ac": "NP_012644",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoinositide 3-phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.64",
                    "type": "synonym"
                },
                {
                    "name": "Yeast myotubularin-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3-phosphatase YMR1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YMR1",
                    "type": "recommended"
                },
                {
                    "name": "J2007",
                    "type": "synonym"
                },
                {
                    "name": "YMR1",
                    "type": "synonym"
                }
            ],
            "record_id": "P47147-1",
            "evidence": [
                {
                    "id": "0110191",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110191"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZA31-1",
            "uniprot_ac": "D3ZA31",
            "uniprot_id": "D3ZA31_RAT",
            "refseq_ac": "XP_006242584",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.95",
                    "type": "synonym"
                },
                {
                    "name": "Myotubularin-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3-phosphate phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin-related protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mtmr2",
                    "type": "recommended"
                },
                {
                    "name": "Mtmr2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZA31-1",
            "evidence": [
                {
                    "id": "0110191",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110191"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AXQ4-1",
            "uniprot_ac": "Q6AXQ4",
            "uniprot_id": "MTM1_RAT",
            "refseq_ac": "NP_001013065",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myotubularin",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.95",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3-phosphate phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "X-linked myotubular myopathy gene 1",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3-phosphate phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mtm1",
                    "type": "recommended"
                },
                {
                    "name": "Mtm1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AXQ4-1",
            "evidence": [
                {
                    "id": "0110191",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110191"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5Y1D5-1",
            "uniprot_ac": "A0A8I5Y1D5",
            "uniprot_id": "A0A8I5Y1D5_RAT",
            "refseq_ac": "XP_063133525",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.95",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3-phosphate phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin-related protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mtmr1",
                    "type": "recommended"
                },
                {
                    "name": "Mtmr1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5Y1D5-1",
            "evidence": [
                {
                    "id": "0110191",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110191"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMI9-1",
            "uniprot_ac": "Q9VMI9",
            "uniprot_id": "Q9VMI9_DROME",
            "refseq_ac": "NP_001285651",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.95",
                    "type": "synonym"
                },
                {
                    "name": "CG9115-PB",
                    "type": "synonym"
                },
                {
                    "name": "mtm-PB",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mtm",
                    "type": "recommended"
                },
                {
                    "name": "CG9115",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9115",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9115",
                    "type": "synonym"
                },
                {
                    "name": "MTM1/R1/R2",
                    "type": "synonym"
                },
                {
                    "name": "MTM1",
                    "type": "synonym"
                },
                {
                    "name": "Mtm",
                    "type": "synonym"
                },
                {
                    "name": "R2",
                    "type": "synonym"
                },
                {
                    "name": "dMTMH1",
                    "type": "synonym"
                },
                {
                    "name": "mtm1",
                    "type": "synonym"
                },
                {
                    "name": "mtm",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMI9-1",
            "evidence": [
                {
                    "id": "0110191",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110191"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13496-1",
            "uniprot_ac": "Q13496",
            "uniprot_id": "MTM1_HUMAN",
            "refseq_ac": "NP_000243",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myotubularin",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.95",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3-phosphate phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3-phosphate phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MTM1",
                    "type": "recommended"
                },
                {
                    "name": "CG2",
                    "type": "synonym"
                },
                {
                    "name": "CNMX",
                    "type": "synonym"
                },
                {
                    "name": "CNM",
                    "type": "synonym"
                },
                {
                    "name": "MTM1",
                    "type": "synonym"
                },
                {
                    "name": "MTMX",
                    "type": "synonym"
                },
                {
                    "name": "XLMTM",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13496-1",
            "evidence": [
                {
                    "id": "0110191",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110191"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13613-1",
            "uniprot_ac": "Q13613",
            "uniprot_id": "MTMR1_HUMAN",
            "refseq_ac": "NP_003819",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol-3-phosphate phosphatase MTMR1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.95",
                    "type": "synonym"
                },
                {
                    "name": "Myotubularin-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3-phosphate phosphatase MTMR1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3-phosphate phosphatase MTMR1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3-phosphate phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MTMR1",
                    "type": "recommended"
                },
                {
                    "name": "MTMR1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13613-1",
            "evidence": [
                {
                    "id": "0110191",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110191"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110191"
}