{
    "disease_id": "DOID:0060450",
    "recommended_name": {
        "id": "DOID:0060450",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060450",
        "name": "Lisch epithelial corneal dystrophy",
        "description": "An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns and that has_material_basis_in the MCOLN1 gene on Chr. 19."
    },
    "synonyms": [
        {
            "id": "DOID:0060450",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060450",
            "name": "LECD",
            "description": ""
        },
        {
            "id": "DOID:0060450",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060450",
            "name": "band-shaped and whorled microcystic",
            "description": ""
        },
        {
            "id": "MONDO:0010425",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010425",
            "name": "Lisch epithelial corneal dystrophy",
            "description": "Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision."
        },
        {
            "id": "MONDO:0010425",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010425",
            "name": "LECD",
            "description": ""
        },
        {
            "id": "MONDO:0010425",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010425",
            "name": "Lisch epithelial corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010425",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010425",
            "name": "band-shaped and whorled microcystic dystrophy of the corneal epithelium",
            "description": ""
        },
        {
            "id": "MONDO:0010425",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010425",
            "name": "corneal dystrophy, Lisch epithelial, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010425",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010425",
            "name": "corneal dystrophy, Lisch epithelial",
            "description": ""
        },
        {
            "id": "MONDO:0010425",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010425",
            "name": "Lisch epithelial corneal dystrophy",
            "description": "Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision."
        },
        {
            "id": "MONDO:0010425",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010425",
            "name": "LECD",
            "description": ""
        },
        {
            "id": "MONDO:0010425",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010425",
            "name": "Lisch epithelial corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010425",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010425",
            "name": "band-shaped and whorled microcystic dystrophy of the corneal epithelium",
            "description": ""
        },
        {
            "id": "MONDO:0010425",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010425",
            "name": "corneal dystrophy, Lisch epithelial, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010425",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010425",
            "name": "corneal dystrophy, Lisch epithelial",
            "description": ""
        },
        {
            "id": "MIM:620763",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620763",
            "name": "Corneal dystrophy, Lisch epithelial",
            "description": "Corneal dystrophy, Lisch epithelial"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060450"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060450",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060450",
            "categories": []
        },
        {
            "id": "MONDO:0010425",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010425",
            "categories": []
        },
        {
            "id": "MIM:620763",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620763",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2BGV1-1",
            "uniprot_ac": "A2BGV1",
            "uniprot_id": "A2BGV1_DANRE",
            "refseq_ac": "NP_001315094",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mucolipin-1a",
                    "type": "synonym"
                },
                {
                    "name": "mucolipin 1.1",
                    "type": "synonym"
                },
                {
                    "name": "mucolipin 1a",
                    "type": "synonym"
                },
                {
                    "name": "mucolipin 1",
                    "type": "synonym"
                },
                {
                    "name": "mucolipin-1a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mcoln1a",
                    "type": "recommended"
                },
                {
                    "name": "mcoln1.1",
                    "type": "synonym"
                },
                {
                    "name": "mcoln1a",
                    "type": "synonym"
                },
                {
                    "name": "mcoln1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63619",
                    "type": "synonym"
                }
            ],
            "record_id": "A2BGV1-1",
            "evidence": [
                {
                    "id": "0060450",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060450"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99J21-1",
            "uniprot_ac": "Q99J21",
            "uniprot_id": "MCLN1_MOUSE",
            "refseq_ac": "NP_444407",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mucolipin-1",
                    "type": "recommended"
                },
                {
                    "name": "Mucolipidin",
                    "type": "synonym"
                },
                {
                    "name": "TRPML1",
                    "type": "synonym"
                },
                {
                    "name": "Transient receptor potential-mucolipin 1",
                    "type": "synonym"
                },
                {
                    "name": "mucolipin-1",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential-mucolipin 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mcoln1",
                    "type": "recommended"
                },
                {
                    "name": "2210015I05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mcoln1",
                    "type": "synonym"
                },
                {
                    "name": "TRPML1",
                    "type": "synonym"
                },
                {
                    "name": "Trpml1",
                    "type": "synonym"
                },
                {
                    "name": "mucolipidin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99J21-1",
            "evidence": [
                {
                    "id": "0060450",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060450"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9GZU1-1",
            "uniprot_ac": "Q9GZU1",
            "uniprot_id": "MCLN1_HUMAN",
            "refseq_ac": "NP_065394",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mucolipin-1",
                    "type": "recommended"
                },
                {
                    "name": "MG-2",
                    "type": "synonym"
                },
                {
                    "name": "ML1",
                    "type": "synonym"
                },
                {
                    "name": "Mucolipidin",
                    "type": "synonym"
                },
                {
                    "name": "TRPML1",
                    "type": "synonym"
                },
                {
                    "name": "Transient receptor potential channel mucolipin 1",
                    "type": "synonym"
                },
                {
                    "name": "mucolipidin",
                    "type": "synonym"
                },
                {
                    "name": "mucolipidosis type IV protein",
                    "type": "synonym"
                },
                {
                    "name": "mucolipin-1",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel mucolipin subfamily member 1",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential channel mucolipin 1",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential mucolipin 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCOLN1",
                    "type": "recommended"
                },
                {
                    "name": "LECD",
                    "type": "synonym"
                },
                {
                    "name": "MCOLN1",
                    "type": "synonym"
                },
                {
                    "name": "MG-2",
                    "type": "synonym"
                },
                {
                    "name": "ML1",
                    "type": "synonym"
                },
                {
                    "name": "ML4",
                    "type": "synonym"
                },
                {
                    "name": "MLIV",
                    "type": "synonym"
                },
                {
                    "name": "MST080",
                    "type": "synonym"
                },
                {
                    "name": "MSTP080",
                    "type": "synonym"
                },
                {
                    "name": "TRP-ML1",
                    "type": "synonym"
                },
                {
                    "name": "TRPM-L1",
                    "type": "synonym"
                },
                {
                    "name": "TRPML1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9GZU1-1",
            "evidence": [
                {
                    "id": "620763",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620763"
                },
                {
                    "id": "0060450",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060450"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6G3L4-1",
            "uniprot_ac": "A0A8I6G3L4",
            "uniprot_id": "A0A8I6G3L4_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mucolipin TRP cation channel 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mcoln1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6G3L4-1",
            "evidence": [
                {
                    "id": "0060450",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060450"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VW35-1",
            "uniprot_ac": "Q9VW35",
            "uniprot_id": "Q9VW35_DROME",
            "refseq_ac": "NP_001163472",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG42638-PA",
                    "type": "synonym"
                },
                {
                    "name": "Transient receptor potential cation channel, mucolipin",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpml",
                    "type": "recommended"
                },
                {
                    "name": "CG42638",
                    "type": "synonym"
                },
                {
                    "name": "CG8743",
                    "type": "synonym"
                },
                {
                    "name": "CT25240",
                    "type": "synonym"
                },
                {
                    "name": "DmTRPML",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42638",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8743",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42638",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8743",
                    "type": "synonym"
                },
                {
                    "name": "TRPML",
                    "type": "synonym"
                },
                {
                    "name": "l(3)76BDi",
                    "type": "synonym"
                },
                {
                    "name": "noncoding_13567",
                    "type": "synonym"
                },
                {
                    "name": "trpml",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VW35-1",
            "evidence": [
                {
                    "id": "0060450",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060450"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060450"
}