{
    "disease_id": "DOID:0060715",
    "recommended_name": {
        "id": "DOID:0060715",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060715",
        "name": "autosomal recessive congenital ichthyosis 6",
        "description": "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33."
    },
    "synonyms": [
        {
            "id": "DOID:0060715",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060715",
            "name": "ARCI6",
            "description": ""
        },
        {
            "id": "MONDO:0012847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012847",
            "name": "autosomal recessive congenital ichthyosis 6",
            "description": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene."
        },
        {
            "id": "MONDO:0012847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012847",
            "name": "ARCI6",
            "description": ""
        },
        {
            "id": "MONDO:0012847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012847",
            "name": "autosomal recessive congenital ichthyosis type 6",
            "description": ""
        },
        {
            "id": "MONDO:0012847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012847",
            "name": "ichthyosis, congenital, autosomal recessive type 6",
            "description": ""
        },
        {
            "id": "MONDO:0012847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012847",
            "name": "ichthyosis, congenital, autosomal recessive 6",
            "description": ""
        },
        {
            "id": "MIM:612281",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612281",
            "name": "Ichthyosis, congenital, autosomal recessive 6",
            "description": "Ichthyosis, congenital, autosomal recessive 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060715"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060715",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060715",
            "categories": []
        },
        {
            "id": "MONDO:0012847",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012847",
            "categories": []
        },
        {
            "id": "MIM:612281",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612281",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QHP8-1",
            "uniprot_ac": "F1QHP8",
            "uniprot_id": "F1QHP8_DANRE",
            "refseq_ac": "XP_021324484",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Magnesium transporter NIPA4 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "magnesium transporter NIPA4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nipal4",
                    "type": "recommended"
                },
                {
                    "name": "nipal4",
                    "type": "synonym"
                },
                {
                    "name": "zgc:91960",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QHP8-1",
            "evidence": [
                {
                    "id": "0060715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BZF2-1",
            "uniprot_ac": "Q8BZF2",
            "uniprot_id": "NIPA4_MOUSE",
            "refseq_ac": "NP_766112",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Magnesium transporter NIPA4",
                    "type": "recommended"
                },
                {
                    "name": "Ichthyin",
                    "type": "synonym"
                },
                {
                    "name": "NIPA-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Non-imprinted in Prader-Willi/Angelman syndrome region protein 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ichthyin",
                    "type": "synonym"
                },
                {
                    "name": "magnesium transporter NIPA4",
                    "type": "synonym"
                },
                {
                    "name": "non-imprinted in Prader-Willi/Angelman syndrome region protein 4 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nipal4",
                    "type": "recommended"
                },
                {
                    "name": "9530066K23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ichn",
                    "type": "synonym"
                },
                {
                    "name": "Nipa4",
                    "type": "synonym"
                },
                {
                    "name": "Nipal4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BZF2-1",
            "evidence": [
                {
                    "id": "0060715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0D2K0-1",
            "uniprot_ac": "Q0D2K0",
            "uniprot_id": "NIPA4_HUMAN",
            "refseq_ac": "NP_001092757",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Magnesium transporter NIPA4",
                    "type": "recommended"
                },
                {
                    "name": "Ichthyin",
                    "type": "synonym"
                },
                {
                    "name": "NIPA-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Non-imprinted in Prader-Willi/Angelman syndrome region protein 4",
                    "type": "synonym"
                },
                {
                    "name": "magnesium transporter NIPA4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "magnesium transporter NIPA4",
                    "type": "synonym"
                },
                {
                    "name": "non-imprinted in Prader-Willi/Angelman syndrome region protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NIPAL4",
                    "type": "recommended"
                },
                {
                    "name": "ARCI6",
                    "type": "synonym"
                },
                {
                    "name": "ICHN",
                    "type": "synonym"
                },
                {
                    "name": "ICHTHYIN",
                    "type": "synonym"
                },
                {
                    "name": "ICHYN",
                    "type": "synonym"
                },
                {
                    "name": "NIPA4",
                    "type": "synonym"
                },
                {
                    "name": "NIPAL4",
                    "type": "synonym"
                },
                {
                    "name": "SLC57A6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0D2K0-1",
            "evidence": [
                {
                    "id": "612281",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612281"
                },
                {
                    "id": "0060715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZA72-1",
            "uniprot_ac": "D3ZA72",
            "uniprot_id": "D3ZA72_RAT",
            "refseq_ac": "NP_001100465",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NIPA-like domain containing 4",
                    "type": "synonym"
                },
                {
                    "name": "magnesium transporter NIPA4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nipal4",
                    "type": "recommended"
                },
                {
                    "name": "Nipal4",
                    "type": "synonym"
                },
                {
                    "name": "RGD1309452",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZA72-1",
            "evidence": [
                {
                    "id": "0060715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PD12-1",
            "uniprot_ac": "M9PD12",
            "uniprot_id": "M9PD12_DROME",
            "refseq_ac": "NP_001260421",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG12292-PB",
                    "type": "synonym"
                },
                {
                    "name": "Spichthyin, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "spichthyin, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "spichthyin",
                    "type": "synonym"
                },
                {
                    "name": "spict-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spict",
                    "type": "recommended"
                },
                {
                    "name": "CG12292",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12292",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12292",
                    "type": "synonym"
                },
                {
                    "name": "Spict",
                    "type": "synonym"
                },
                {
                    "name": "spg6",
                    "type": "synonym"
                },
                {
                    "name": "spict",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PD12-1",
            "evidence": [
                {
                    "id": "0060715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060715"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060715"
}