{
    "disease_id": "DOID:0081097",
    "recommended_name": {
        "id": "DOID:0081097",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081097",
        "name": "Rafiq syndrome",
        "description": "An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0081097",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081097",
            "name": "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15",
            "description": ""
        },
        {
            "id": "MONDO:0013624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013624",
            "name": "Rafiq syndrome",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene."
        },
        {
            "id": "MONDO:0013624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013624",
            "name": "CDG2U",
            "description": ""
        },
        {
            "id": "MONDO:0013624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013624",
            "name": "MAN1B1 autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0013624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013624",
            "name": "RAFQS",
            "description": ""
        },
        {
            "id": "MONDO:0013624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013624",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in MAN1B1",
            "description": ""
        },
        {
            "id": "MONDO:0013624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013624",
            "name": "intellectual disability, autosomal recessive 15",
            "description": ""
        },
        {
            "id": "MONDO:0013624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013624",
            "name": "mental retardation, autosomal recessive 15",
            "description": ""
        },
        {
            "id": "MONDO:0013624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013624",
            "name": "mental retardation, autosomal recessive type 15",
            "description": ""
        },
        {
            "id": "MONDO:0013624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013624",
            "name": "MRT15",
            "description": ""
        },
        {
            "id": "MIM:614202",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614202",
            "name": "Rafiq syndrome",
            "description": "Rafiq syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081097"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081097",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081097",
            "categories": []
        },
        {
            "id": "MONDO:0013624",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013624",
            "categories": []
        },
        {
            "id": "MIM:614202",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614202",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9UKM7-1",
            "uniprot_ac": "Q9UKM7",
            "uniprot_id": "MA1B1_HUMAN",
            "refseq_ac": "NP_057303",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.113",
                    "type": "synonym"
                },
                {
                    "name": "ER alpha 1,2-mannosidase",
                    "type": "synonym"
                },
                {
                    "name": "ER alpha-1,2-mannosidase",
                    "type": "synonym"
                },
                {
                    "name": "ER mannosidase 1",
                    "type": "synonym"
                },
                {
                    "name": "ERMan1",
                    "type": "synonym"
                },
                {
                    "name": "Man9GlcNAc2-specific processing alpha-mannosidase",
                    "type": "synonym"
                },
                {
                    "name": "Man9GlcNAc2-specific-processing alpha-mannosidase",
                    "type": "synonym"
                },
                {
                    "name": "Mannosidase alpha class 1B member 1",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic Reticulum Class I alpha-mannosidase",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAN1B1",
                    "type": "recommended"
                },
                {
                    "name": "ERMAN1",
                    "type": "synonym"
                },
                {
                    "name": "ERManI",
                    "type": "synonym"
                },
                {
                    "name": "MAN1B1",
                    "type": "synonym"
                },
                {
                    "name": "MANA-ER",
                    "type": "synonym"
                },
                {
                    "name": "MRT15",
                    "type": "synonym"
                },
                {
                    "name": "PRO1477",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UKM7-1",
            "evidence": [
                {
                    "id": "11253",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/11253#disease"
                },
                {
                    "id": "0013624",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013624"
                },
                {
                    "id": "614202",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614202"
                },
                {
                    "id": "MAN1B1",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/MAN1B1/#!details"
                },
                {
                    "id": "0081097",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081097"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7F4N5-1",
            "uniprot_ac": "E7F4N5",
            "uniprot_id": "E7F4N5_DANRE",
            "refseq_ac": "XP_005161175",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "alpha-1,2-Mannosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.-",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "man1b1a",
                    "type": "recommended"
                },
                {
                    "name": "man1b1a",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F4N5-1",
            "evidence": [
                {
                    "id": "0081097",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081097"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A5WWD5-1",
            "uniprot_ac": "A5WWD5",
            "uniprot_id": "A5WWD5_DANRE",
            "refseq_ac": "NP_001093449",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "alpha-1,2-Mannosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.-",
                    "type": "synonym"
                },
                {
                    "name": "mannosidase, alpha, class 1B, member 1b",
                    "type": "synonym"
                },
                {
                    "name": "mannosidase, alpha, class 1B, member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "man1b1b",
                    "type": "recommended"
                },
                {
                    "name": "man1b1b",
                    "type": "synonym"
                },
                {
                    "name": "man1b1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-61l1.3",
                    "type": "synonym"
                }
            ],
            "record_id": "A5WWD5-1",
            "evidence": [
                {
                    "id": "0081097",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081097"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AJ15-1",
            "uniprot_ac": "A2AJ15",
            "uniprot_id": "MA1B1_MOUSE",
            "refseq_ac": "NP_001025154",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.113",
                    "type": "synonym"
                },
                {
                    "name": "ER alpha-1,2-mannosidase",
                    "type": "synonym"
                },
                {
                    "name": "ER mannosidase 1",
                    "type": "synonym"
                },
                {
                    "name": "ERMan1",
                    "type": "synonym"
                },
                {
                    "name": "Man9GlcNAc2-specific-processing alpha-mannosidase",
                    "type": "synonym"
                },
                {
                    "name": "Mannosidase alpha class 1B member 1",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase",
                    "type": "synonym"
                },
                {
                    "name": "man9GlcNAc2-specific-processing alpha-mannosidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Man1b1",
                    "type": "recommended"
                },
                {
                    "name": "E430019H13Rik",
                    "type": "synonym"
                },
                {
                    "name": "ERMan1",
                    "type": "synonym"
                },
                {
                    "name": "Gm108",
                    "type": "synonym"
                },
                {
                    "name": "MANA-ER",
                    "type": "synonym"
                },
                {
                    "name": "Man1b1",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AJ15-1",
            "evidence": [
                {
                    "id": "0081097",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081097"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32906-1",
            "uniprot_ac": "P32906",
            "uniprot_id": "MNS1_YEAST",
            "refseq_ac": "NP_012665",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.113",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.209",
                    "type": "synonym"
                },
                {
                    "name": "ER alpha-1,2-mannosidase",
                    "type": "synonym"
                },
                {
                    "name": "Man(9)-alpha-mannosidase",
                    "type": "synonym"
                },
                {
                    "name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MNS1",
                    "type": "recommended"
                },
                {
                    "name": "J2110",
                    "type": "synonym"
                },
                {
                    "name": "MNS1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32906-1",
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                {
                    "id": "0081097",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081097"
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            ]
        },
        {
            "uniprot_canonical_ac": "B2GUY0-1",
            "uniprot_ac": "B2GUY0",
            "uniprot_id": "MA1B1_RAT",
            "refseq_ac": "NP_001102666",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.113",
                    "type": "synonym"
                },
                {
                    "name": "ER alpha-1,2-mannosidase",
                    "type": "synonym"
                },
                {
                    "name": "ER mannosidase 1",
                    "type": "synonym"
                },
                {
                    "name": "ERMan1",
                    "type": "synonym"
                },
                {
                    "name": "Mannosidase alpha class 1B member 1",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Man1b1",
                    "type": "recommended"
                },
                {
                    "name": "ERMan1",
                    "type": "synonym"
                },
                {
                    "name": "Man1b1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1563595",
                    "type": "synonym"
                }
            ],
            "record_id": "B2GUY0-1",
            "evidence": [
                {
                    "id": "0081097",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081097"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAP8-1",
            "uniprot_ac": "Q9VAP8",
            "uniprot_id": "Q9VAP8_DROME",
            "refseq_ac": "NP_651667",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "alpha-1,2-Mannosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CG11874-PA",
                    "type": "synonym"
                },
                {
                    "name": "alpha mannosidase Ib",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Man-Ib-PA",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Mannosidase class I b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "alpha-Man-Ib",
                    "type": "recommended"
                },
                {
                    "name": "CG11874",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11874",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11874",
                    "type": "synonym"
                },
                {
                    "name": "ORE-11",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Man-Ib",
                    "type": "synonym"
                },
                {
                    "name": "dMas-3",
                    "type": "synonym"
                },
                {
                    "name": "mas-3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAP8-1",
            "evidence": [
                {
                    "id": "0081097",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081097"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081097"
}