{
    "disease_id": "DOID:0060712",
    "recommended_name": {
        "id": "DOID:0060712",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060712",
        "name": "autosomal recessive congenital ichthyosis 4A",
        "description": "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35."
    },
    "synonyms": [
        {
            "id": "DOID:0060712",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060712",
            "name": "ARCI4A",
            "description": ""
        },
        {
            "id": "DOID:0060712",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060712",
            "name": "ICR2B",
            "description": ""
        },
        {
            "id": "DOID:0060712",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060712",
            "name": "ichthyosis congenita IIB",
            "description": ""
        },
        {
            "id": "DOID:0060712",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060712",
            "name": "lamellar ichthyosis 2",
            "description": ""
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "autosomal recessive congenital ichthyosis 4A",
            "description": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene."
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "ARCI4A",
            "description": ""
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "ICR2B",
            "description": ""
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "autosomal recessive congenital ichthyosis type 4A",
            "description": ""
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "ichthyosis, congenital, autosomal recessive type 4A",
            "description": ""
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "LI2",
            "description": ""
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "ichthyosis lamellar 2",
            "description": ""
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "ichthyosis, congenital, autosomal recessive 4A",
            "description": ""
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "ichthyosis, lamellar, 2",
            "description": ""
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "lamellar ichthyosis, type 2",
            "description": ""
        },
        {
            "id": "MIM:601277",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601277",
            "name": "Ichthyosis, congenital, autosomal recessive 4A",
            "description": "Ichthyosis, congenital, autosomal recessive 4A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060712"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060712",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060712",
            "categories": []
        },
        {
            "id": "MONDO:0011026",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "categories": []
        },
        {
            "id": "MIM:601277",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601277",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7T793-1",
            "uniprot_ac": "A0A8N7T793",
            "uniprot_id": "A0A8N7T793_DANRE",
            "refseq_ac": "XP_686632",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein abca12",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein abca12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "abca12",
                    "type": "recommended"
                },
                {
                    "name": "abca12",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7T793-1",
            "evidence": [
                {
                    "id": "0060712",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060712"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q876-1",
            "uniprot_ac": "E9Q876",
            "uniprot_id": "ABCAC_MOUSE",
            "refseq_ac": "NP_780419",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucosylceramide transporter ABCA12",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family A member 12",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family A (ABC1), member 12",
                    "type": "synonym"
                },
                {
                    "name": "glucosylceramide transporter ABCA12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abca12",
                    "type": "recommended"
                },
                {
                    "name": "4832428G11Rik",
                    "type": "synonym"
                },
                {
                    "name": "4833417A11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Abca12",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q876-1",
            "evidence": [
                {
                    "id": "0060712",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060712"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86UK0-1",
            "uniprot_ac": "Q86UK0",
            "uniprot_id": "ABCAC_HUMAN",
            "refseq_ac": "NP_056472",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucosylceramide transporter ABCA12",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette 12",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family A member 12",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette transporter 12",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family A (ABC1), member 12",
                    "type": "synonym"
                },
                {
                    "name": "glucosylceramide transporter ABCA12 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "glucosylceramide transporter ABCA12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ABCA12",
                    "type": "recommended"
                },
                {
                    "name": "ABC12",
                    "type": "synonym"
                },
                {
                    "name": "ABCA12",
                    "type": "synonym"
                },
                {
                    "name": "ARCI4A",
                    "type": "synonym"
                },
                {
                    "name": "ARCI4B",
                    "type": "synonym"
                },
                {
                    "name": "ICR2B",
                    "type": "synonym"
                },
                {
                    "name": "LI2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86UK0-1",
            "evidence": [
                {
                    "id": "601277",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601277"
                },
                {
                    "id": "0060712",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060712"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A7J3-1",
            "uniprot_ac": "D4A7J3",
            "uniprot_id": "D4A7J3_RAT",
            "refseq_ac": "NP_001414620",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP binding cassette subfamily A member 12",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family A member 12",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family A (ABC1), member 12",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, subfamily A (ABC1), member 12",
                    "type": "synonym"
                },
                {
                    "name": "glucosylceramide transporter ABCA12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abca12",
                    "type": "recommended"
                },
                {
                    "name": "Abca12",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A7J3-1",
            "evidence": [
                {
                    "id": "0060712",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060712"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "X2JG15-1",
            "uniprot_ac": "X2JG15",
            "uniprot_id": "X2JG15_DROME",
            "refseq_ac": "NP_001285513",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG34120-PE",
                    "type": "synonym"
                },
                {
                    "name": "Lipid droplet defective, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "ldd-PE",
                    "type": "synonym"
                },
                {
                    "name": "lipid droplet defective, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ldd",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:AT04622",
                    "type": "synonym"
                },
                {
                    "name": "CG1819",
                    "type": "synonym"
                },
                {
                    "name": "CG32516",
                    "type": "synonym"
                },
                {
                    "name": "CG34120",
                    "type": "synonym"
                },
                {
                    "name": "DmCG1819",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34120",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34120",
                    "type": "synonym"
                },
                {
                    "name": "ldd",
                    "type": "synonym"
                }
            ],
            "record_id": "X2JG15-1",
            "evidence": [
                {
                    "id": "0060712",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060712"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060712"
}