{
    "disease_id": "DOID:0061042",
    "recommended_name": {
        "id": "DOID:0061042",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061042",
        "name": "autosomal dominant intellectual developmental disorder 69",
        "description": "An autosomal dominant intellectual developmental disorder characterized by developmental delay with variably impaired intellectual development that has_material_basis_in heterozygous mutation in the LMAN2L gene on chromosome 2q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0029465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029465",
            "name": "intellectual developmental disorder, autosomal dominant 69",
            "description": ""
        },
        {
            "id": "MONDO:0029465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029465",
            "name": "MRD69",
            "description": ""
        },
        {
            "id": "MONDO:0029465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029465",
            "name": "intellectual developmental disorder, autosomal dominant 69",
            "description": ""
        },
        {
            "id": "MONDO:0029465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029465",
            "name": "mental retardation, autosomal dominant 69",
            "description": ""
        },
        {
            "id": "MIM:617863",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617863",
            "name": "Intellectual developmental disorder, autosomal dominant 69",
            "description": "Intellectual developmental disorder, autosomal dominant 69"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061042"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061042",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061042",
            "categories": []
        },
        {
            "id": "MONDO:0029465",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029465",
            "categories": []
        },
        {
            "id": "MIM:617863",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617863",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P59481-1",
            "uniprot_ac": "P59481",
            "uniprot_id": "LMA2L_MOUSE",
            "refseq_ac": "NP_001013392",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "VIP36-like protein",
                    "type": "recommended"
                },
                {
                    "name": "LMAN2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Lectin mannose-binding 2-like",
                    "type": "synonym"
                },
                {
                    "name": "VIP36-like protein isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lman2l",
                    "type": "recommended"
                },
                {
                    "name": "A630028F14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Lman2l",
                    "type": "synonym"
                },
                {
                    "name": "VIP36-like",
                    "type": "synonym"
                },
                {
                    "name": "VIPL",
                    "type": "synonym"
                },
                {
                    "name": "Vipl",
                    "type": "synonym"
                }
            ],
            "record_id": "P59481-1",
            "evidence": [
                {
                    "id": "0061042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061042"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H0V9-1",
            "uniprot_ac": "Q9H0V9",
            "uniprot_id": "LMA2L_HUMAN",
            "refseq_ac": "NP_001135764",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "VIP36-like protein",
                    "type": "recommended"
                },
                {
                    "name": "LMAN2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Lectin mannose-binding 2-like",
                    "type": "synonym"
                },
                {
                    "name": "VIP36-like protein isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "VIP36-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LMAN2L",
                    "type": "recommended"
                },
                {
                    "name": "LMAN2L",
                    "type": "synonym"
                },
                {
                    "name": "MRD69",
                    "type": "synonym"
                },
                {
                    "name": "MRT52",
                    "type": "synonym"
                },
                {
                    "name": "PRO704",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0028",
                    "type": "synonym"
                },
                {
                    "name": "VIPL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H0V9-1",
            "evidence": [
                {
                    "id": "617863",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617863"
                },
                {
                    "id": "0061042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061042"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43555-1",
            "uniprot_ac": "P43555",
            "uniprot_id": "EMP47_YEAST",
            "refseq_ac": "NP_116606",
            "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": "Protein EMP47",
                    "type": "recommended"
                },
                {
                    "name": "47 kDa endomembrane protein",
                    "type": "synonym"
                },
                {
                    "name": "Emp47p",
                    "type": "synonym"
                },
                {
                    "name": "Endosomal P44 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EMP47",
                    "type": "recommended"
                },
                {
                    "name": "EMP47",
                    "type": "synonym"
                }
            ],
            "record_id": "P43555-1",
            "evidence": [
                {
                    "id": "0061042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061042"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12396-1",
            "uniprot_ac": "Q12396",
            "uniprot_id": "EMP46_YEAST",
            "refseq_ac": "NP_013181",
            "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": "Protein EMP46",
                    "type": "recommended"
                },
                {
                    "name": "46 kDa endomembrane protein",
                    "type": "synonym"
                },
                {
                    "name": "Emp46p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EMP46",
                    "type": "recommended"
                },
                {
                    "name": "EMP46",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12396-1",
            "evidence": [
                {
                    "id": "0061042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061042"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36137-1",
            "uniprot_ac": "P36137",
            "uniprot_id": "UIP5_YEAST",
            "refseq_ac": "NP_012970",
            "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": "Protein UIP5",
                    "type": "recommended"
                },
                {
                    "name": "ULP1-interacting protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Uip5p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UIP5",
                    "type": "recommended"
                },
                {
                    "name": "UIP5",
                    "type": "synonym"
                }
            ],
            "record_id": "P36137-1",
            "evidence": [
                {
                    "id": "0061042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061042"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6G604-1",
            "uniprot_ac": "A0A8I6G604",
            "uniprot_id": "A0A8I6G604_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lectin, mannose-binding 2-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lman2l",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6G604-1",
            "evidence": [
                {
                    "id": "0061042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061042"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VCC2-1",
            "uniprot_ac": "Q9VCC2",
            "uniprot_id": "Q9VCC2_DROME",
            "refseq_ac": "NP_651224",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "L-type lectin-like domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG5510-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG5510",
                    "type": "recommended"
                },
                {
                    "name": "CG5510",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5510",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5510",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VCC2-1",
            "evidence": [
                {
                    "id": "0061042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061042"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061042"
}