{
    "disease_id": "DOID:0080568",
    "recommended_name": {
        "id": "DOID:0080568",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080568",
        "name": "congenital disorder of glycosylation Iq",
        "description": "A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12."
    },
    "synonyms": [
        {
            "id": "DOID:0080568",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080568",
            "name": "congenital disorder of glycosylation 1q",
            "description": ""
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "SRD5A3-congenital disorder of glycosylation",
            "description": "A rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation."
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "CDG syndrome type Iq",
            "description": ""
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "CDG-Iq",
            "description": ""
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "CDG1Q",
            "description": ""
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "SRD5A3-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "SRD5A3-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "congenital disorder of glycosylation type 1q",
            "description": ""
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "congenital disorder of glycosylation type Iq",
            "description": ""
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "CDGIq",
            "description": ""
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "SRD5A3-CDG (CDG-Iq)",
            "description": ""
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "congenital disorder of glycosylation, type Iq",
            "description": ""
        },
        {
            "id": "MIM:612379",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612379",
            "name": "Congenital disorder of glycosylation 1Q",
            "description": "Congenital disorder of glycosylation 1Q"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080568"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080568",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080568",
            "categories": []
        },
        {
            "id": "MONDO:0012885",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "categories": []
        },
        {
            "id": "MIM:612379",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612379",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9H8P0-1",
            "uniprot_ac": "Q9H8P0",
            "uniprot_id": "SR5A3_HUMAN",
            "refseq_ac": "NP_078868",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyprenal reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.22",
                    "type": "synonym"
                },
                {
                    "name": "1.3.1.94",
                    "type": "synonym"
                },
                {
                    "name": "3-oxo-5-alpha-steroid 4-dehydrogenase (NADP(+))",
                    "type": "synonym"
                },
                {
                    "name": "3-oxo-5-alpha-steroid 4-dehydrogenase 3",
                    "type": "synonym"
                },
                {
                    "name": "S5AR 3",
                    "type": "synonym"
                },
                {
                    "name": "SR type 3",
                    "type": "synonym"
                },
                {
                    "name": "Steroid 5-alpha-reductase 2-like",
                    "type": "synonym"
                },
                {
                    "name": "Steroid 5-alpha-reductase 3",
                    "type": "synonym"
                },
                {
                    "name": "polyprenal reductase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "polyprenal reductase",
                    "type": "synonym"
                },
                {
                    "name": "probable polyprenol reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SRD5A3",
                    "type": "recommended"
                },
                {
                    "name": "CDG1P",
                    "type": "synonym"
                },
                {
                    "name": "CDG1Q",
                    "type": "synonym"
                },
                {
                    "name": "KRIZI",
                    "type": "synonym"
                },
                {
                    "name": "S5AR 3",
                    "type": "synonym"
                },
                {
                    "name": "S5AR",
                    "type": "synonym"
                },
                {
                    "name": "SRD5A2L1",
                    "type": "synonym"
                },
                {
                    "name": "SRD5A2L",
                    "type": "synonym"
                },
                {
                    "name": "SRD5A3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H8P0-1",
            "evidence": [
                {
                    "id": "79644",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/79644#disease"
                },
                {
                    "id": "0012885",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012885"
                },
                {
                    "id": "612379",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612379"
                },
                {
                    "id": "SRD5A3",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/SRD5A3/#!details"
                },
                {
                    "id": "0080568",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080568"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5RIU9-1",
            "uniprot_ac": "Q5RIU9",
            "uniprot_id": "SR5A3_DANRE",
            "refseq_ac": "NP_001038404",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyprenal reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.22",
                    "type": "synonym"
                },
                {
                    "name": "1.3.1.94",
                    "type": "synonym"
                },
                {
                    "name": "3-oxo-5-alpha-steroid 4-dehydrogenase 3",
                    "type": "synonym"
                },
                {
                    "name": "S5AR 3",
                    "type": "synonym"
                },
                {
                    "name": "SR type 3",
                    "type": "synonym"
                },
                {
                    "name": "Steroid 5-alpha-reductase 3",
                    "type": "synonym"
                },
                {
                    "name": "polyprenal reductase",
                    "type": "synonym"
                },
                {
                    "name": "probable polyprenol reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "srd5a3",
                    "type": "recommended"
                },
                {
                    "name": "S5AR 3",
                    "type": "synonym"
                },
                {
                    "name": "fj40g12",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-278f21.3",
                    "type": "synonym"
                },
                {
                    "name": "srd5a2l",
                    "type": "synonym"
                },
                {
                    "name": "srd5a3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj40g12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RIU9-1",
            "evidence": [
                {
                    "id": "0080568",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080568"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WUP4-1",
            "uniprot_ac": "Q9WUP4",
            "uniprot_id": "SR5A3_MOUSE",
            "refseq_ac": "NP_065636",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyprenal reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.22",
                    "type": "synonym"
                },
                {
                    "name": "1.3.1.94",
                    "type": "synonym"
                },
                {
                    "name": "3-oxo-5-alpha-steroid 4-dehydrogenase 3",
                    "type": "synonym"
                },
                {
                    "name": "H5AR gene",
                    "type": "synonym"
                },
                {
                    "name": "H5AR",
                    "type": "synonym"
                },
                {
                    "name": "S5AR 3",
                    "type": "synonym"
                },
                {
                    "name": "SR type 3",
                    "type": "synonym"
                },
                {
                    "name": "Steroid 5-alpha-reductase 2-like",
                    "type": "synonym"
                },
                {
                    "name": "Steroid 5-alpha-reductase 3",
                    "type": "synonym"
                },
                {
                    "name": "polyprenal reductase",
                    "type": "synonym"
                },
                {
                    "name": "probable polyprenol reductase",
                    "type": "synonym"
                },
                {
                    "name": "steroid 5 alpha-reductase 2 like",
                    "type": "synonym"
                },
                {
                    "name": "steroid 5 alpha-reductase 2-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Srd5a3",
                    "type": "recommended"
                },
                {
                    "name": "1110025P14Rik",
                    "type": "synonym"
                },
                {
                    "name": "A430076C09",
                    "type": "synonym"
                },
                {
                    "name": "D730040M03Rik",
                    "type": "synonym"
                },
                {
                    "name": "H5ar",
                    "type": "synonym"
                },
                {
                    "name": "S5AR 3",
                    "type": "synonym"
                },
                {
                    "name": "Srd5a2l",
                    "type": "synonym"
                },
                {
                    "name": "Srd5a3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WUP4-1",
            "evidence": [
                {
                    "id": "0080568",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080568"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40526-1",
            "uniprot_ac": "P40526",
            "uniprot_id": "DFG10_YEAST",
            "refseq_ac": "NP_012215",
            "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": "Polyprenal reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.94",
                    "type": "synonym"
                },
                {
                    "name": "putative polyprenol reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DFG10",
                    "type": "recommended"
                },
                {
                    "name": "DFG10",
                    "type": "synonym"
                }
            ],
            "record_id": "P40526-1",
            "evidence": [
                {
                    "id": "0080568",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080568"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5RJM1-1",
            "uniprot_ac": "Q5RJM1",
            "uniprot_id": "SR5A3_RAT",
            "refseq_ac": "NP_001014012",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyprenal reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.22",
                    "type": "synonym"
                },
                {
                    "name": "1.3.1.94",
                    "type": "synonym"
                },
                {
                    "name": "3-oxo-5-alpha-steroid 4-dehydrogenase 3",
                    "type": "synonym"
                },
                {
                    "name": "S5AR 3",
                    "type": "synonym"
                },
                {
                    "name": "SR type 3",
                    "type": "synonym"
                },
                {
                    "name": "Steroid 5-alpha-reductase 3",
                    "type": "synonym"
                },
                {
                    "name": "polyprenal reductase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "polyprenal reductase",
                    "type": "synonym"
                },
                {
                    "name": "probable polyprenol reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Srd5a3",
                    "type": "recommended"
                },
                {
                    "name": "RGD1308828",
                    "type": "synonym"
                },
                {
                    "name": "S5AR 3",
                    "type": "synonym"
                },
                {
                    "name": "Srd5a3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RJM1-1",
            "evidence": [
                {
                    "id": "0080568",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080568"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VLP9-1",
            "uniprot_ac": "Q9VLP9",
            "uniprot_id": "SR5A3_DROME",
            "refseq_ac": "NP_609203",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyprenal reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.94",
                    "type": "synonym"
                },
                {
                    "name": "CG7840-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG7840",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7840",
                    "type": "synonym"
                },
                {
                    "name": "cg7840",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLP9-1",
            "evidence": [
                {
                    "id": "0080568",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080568"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080568"
}