{
    "disease_id": "DOID:0060714",
    "recommended_name": {
        "id": "DOID:0060714",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060714",
        "name": "autosomal recessive congenital ichthyosis 5",
        "description": "An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0060714",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060714",
            "name": "autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis",
            "description": ""
        },
        {
            "id": "DOID:0060714",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060714",
            "name": "ARCI5",
            "description": ""
        },
        {
            "id": "MONDO:0011485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011485",
            "name": "autosomal recessive congenital ichthyosis 5",
            "description": "An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13."
        },
        {
            "id": "MONDO:0011485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011485",
            "name": "ARCI5",
            "description": ""
        },
        {
            "id": "MONDO:0011485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011485",
            "name": "autosomal recessive congenital ichthyosis 5",
            "description": ""
        },
        {
            "id": "MONDO:0011485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011485",
            "name": "autosomal recessive congenital ichthyosis type 5",
            "description": ""
        },
        {
            "id": "MONDO:0011485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011485",
            "name": "ichthyosis, congenital, autosomal recessive type 5",
            "description": ""
        },
        {
            "id": "MONDO:0011485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011485",
            "name": "LI3, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0011485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011485",
            "name": "NNCI",
            "description": ""
        },
        {
            "id": "MONDO:0011485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011485",
            "name": "ichthyosis congenita 3",
            "description": ""
        },
        {
            "id": "MONDO:0011485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011485",
            "name": "ichthyosis congenita III",
            "description": ""
        },
        {
            "id": "MONDO:0011485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011485",
            "name": "ichthyosis lamellar 3",
            "description": ""
        },
        {
            "id": "MONDO:0011485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011485",
            "name": "ichthyosis, NONLAMELLAR and NONERYTHRODERMIC, congenital, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0011485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011485",
            "name": "ichthyosis, congenital, autosomal recessive 5",
            "description": ""
        },
        {
            "id": "MONDO:0011485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011485",
            "name": "ichthyosis, lamellar, 3",
            "description": ""
        },
        {
            "id": "MONDO:0011485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011485",
            "name": "ichthyosis, lamellar, 3, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0011485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011485",
            "name": "lamellar ichthyosis, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011485",
            "name": "type 3 lamellar ichthyosis",
            "description": ""
        },
        {
            "id": "MIM:604777",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604777",
            "name": "Ichthyosis, congenital, autosomal recessive 5",
            "description": "Ichthyosis, congenital, autosomal recessive 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060714"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060714",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060714",
            "categories": []
        },
        {
            "id": "MONDO:0011485",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011485",
            "categories": []
        },
        {
            "id": "MIM:604777",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604777",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6NT55-1",
            "uniprot_ac": "Q6NT55",
            "uniprot_id": "CP4FN_HUMAN",
            "refseq_ac": "NP_775754",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ultra-long-chain fatty acid omega-hydroxylase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.177",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450 4F22",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 4F22",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, family 2, subfamily E, polypeptide 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, family 4, subfamily F, polypeptide 22",
                    "type": "synonym"
                },
                {
                    "name": "ultra-long-chain fatty acid omega-hydroxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYP4F22",
                    "type": "recommended"
                },
                {
                    "name": "ARCI5",
                    "type": "synonym"
                },
                {
                    "name": "CYP4F22",
                    "type": "synonym"
                },
                {
                    "name": "INLNE",
                    "type": "synonym"
                },
                {
                    "name": "LI3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NT55-1",
            "evidence": [
                {
                    "id": "604777",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604777"
                },
                {
                    "id": "0060714",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060714"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21595-1",
            "uniprot_ac": "P21595",
            "uniprot_id": "CP56_YEAST",
            "refseq_ac": "NP_010690",
            "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": "Cytochrome P450-DIT2",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.-",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450 56",
                    "type": "synonym"
                },
                {
                    "name": "putative cytochrome P450",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DIT2",
                    "type": "recommended"
                },
                {
                    "name": "CYP56",
                    "type": "synonym"
                },
                {
                    "name": "D9509.20",
                    "type": "synonym"
                },
                {
                    "name": "DIT2",
                    "type": "synonym"
                }
            ],
            "record_id": "P21595-1",
            "evidence": [
                {
                    "id": "0060714",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060714"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A1W2Q6E6-1",
            "uniprot_ac": "A0A1W2Q6E6",
            "uniprot_id": "A0A1W2Q6E6_RAT",
            "refseq_ac": "NP_001386608",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 4F22",
                    "type": "recommended"
                },
                {
                    "name": "cytochrome P450 4F22",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, family 4, subfamily f, polypeptide 39",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp4f39",
                    "type": "recommended"
                },
                {
                    "name": "Cyp4f39",
                    "type": "synonym"
                },
                {
                    "name": "RGD1308796",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A1W2Q6E6-1",
            "evidence": [
                {
                    "id": "0060714",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060714"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060714"
}