{
    "disease_id": "DOID:0060469",
    "recommended_name": {
        "id": "DOID:0060469",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060469",
        "name": "Miller-Dieker lissencephaly syndrome",
        "description": "A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0060469",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060469",
            "name": "MDS",
            "description": ""
        },
        {
            "id": "DOID:0060469",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060469",
            "name": "Miller-Dieker syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009532",
            "name": "Miller-Dieker lissencephaly syndrome",
            "description": "A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip."
        },
        {
            "id": "MONDO:0009532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009532",
            "name": "Miller-Dieker lissencephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009532",
            "name": "Miller-Dieker syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009532",
            "name": "lissencephaly due to 17p13.3 deletion",
            "description": ""
        },
        {
            "id": "MONDO:0009532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009532",
            "name": "monosomy 17p13.3",
            "description": ""
        },
        {
            "id": "MONDO:0009532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009532",
            "name": "telomeric deletion 17p",
            "description": ""
        },
        {
            "id": "MONDO:0009532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009532",
            "name": "MDLS",
            "description": ""
        },
        {
            "id": "MIM:247200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/247200",
            "name": "Miller-Dieker lissencephaly syndrome",
            "description": "Miller-Dieker lissencephaly syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060469"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060469",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060469",
            "categories": []
        },
        {
            "id": "MONDO:0009532",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009532",
            "categories": []
        },
        {
            "id": "MIM:247200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/247200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB13A9Y4-1",
            "uniprot_ac": "A0AB13A9Y4",
            "uniprot_id": "A0AB13A9Y4_DANRE",
            "refseq_ac": "NP_001410788",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hypermethylated in cancer 1 protein",
                    "type": "recommended"
                },
                {
                    "name": "etID142640.25",
                    "type": "synonym"
                },
                {
                    "name": "hypermethylated in cancer 1 protein isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hic1",
                    "type": "recommended"
                },
                {
                    "name": "hic1",
                    "type": "synonym"
                },
                {
                    "name": "zfHIC1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A9Y4-1",
            "evidence": [
                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q567W6-1",
            "uniprot_ac": "Q567W6",
            "uniprot_id": "DPH1_DANRE",
            "refseq_ac": "NP_001017861",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "2.5.1.108",
                    "type": "synonym"
                },
                {
                    "name": "Diphthamide biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Diphtheria toxin resistance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "diphthamide biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "diphtheria toxin resistance protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dph1",
                    "type": "recommended"
                },
                {
                    "name": "dph1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110702",
                    "type": "synonym"
                }
            ],
            "record_id": "Q567W6-1",
            "evidence": [
                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3AIM1-1",
            "uniprot_ac": "A0A8M3AIM1",
            "uniprot_id": "A0A8M3AIM1_DANRE",
            "refseq_ac": "XP_009290027",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Max-binding protein MNT",
                    "type": "recommended"
                },
                {
                    "name": "Myc antagonist MNT",
                    "type": "synonym"
                },
                {
                    "name": "max-binding protein MNT isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mnta",
                    "type": "recommended"
                },
                {
                    "name": "mnta",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AIM1-1",
            "evidence": [
                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7T394-1",
            "uniprot_ac": "Q7T394",
            "uniprot_id": "LIS1A_DANRE",
            "refseq_ac": "NP_958502",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lissencephaly-1 homolog A",
                    "type": "recommended"
                },
                {
                    "name": "Platelet-activating factor acetylhydrolase IB subunit alpha a",
                    "type": "synonym"
                },
                {
                    "name": "lis1b",
                    "type": "synonym"
                },
                {
                    "name": "lissencephaly-1 homolog A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pafah1b1a",
                    "type": "recommended"
                },
                {
                    "name": "lis1b",
                    "type": "synonym"
                },
                {
                    "name": "pafah1b1a",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-95O3.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7T394-1",
            "evidence": [
                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q803D2-1",
            "uniprot_ac": "Q803D2",
            "uniprot_id": "LIS1B_DANRE",
            "refseq_ac": "NP_958503",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lissencephaly-1 homolog B",
                    "type": "recommended"
                },
                {
                    "name": "Platelet-activating factor acetylhydrolase IB subunit alpha b",
                    "type": "synonym"
                },
                {
                    "name": "lissencephaly-1 homolog B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pafah1b1b",
                    "type": "recommended"
                },
                {
                    "name": "Lis1a",
                    "type": "synonym"
                },
                {
                    "name": "lis1a",
                    "type": "synonym"
                },
                {
                    "name": "pafah1b1b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q803D2-1",
            "evidence": [
                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ACD6B5R7-1",
            "uniprot_ac": "A0ACD6B5R7",
            "uniprot_id": "A0ACD6B5R7_DANRE",
            "refseq_ac": "XP_005170328",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Max-binding protein MNT",
                    "type": "recommended"
                },
                {
                    "name": "MAX network transcriptional repressor b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "Myc antagonist MNT",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mntb",
                    "type": "recommended"
                },
                {
                    "name": "Mnt",
                    "type": "synonym"
                },
                {
                    "name": "mntb",
                    "type": "synonym"
                },
                {
                    "name": "zgc:165490",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5R7-1",
            "evidence": [
                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63005-1",
            "uniprot_ac": "P63005",
            "uniprot_id": "LIS1_MOUSE",
            "refseq_ac": "NP_038653",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Platelet-activating factor acetylhydrolase IB subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "LIS-1",
                    "type": "synonym"
                },
                {
                    "name": "Lissencephaly-1 protein",
                    "type": "synonym"
                },
                {
                    "name": "PAF acetylhydrolase 45 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "PAF-AH 45 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "PAF-AH alpha",
                    "type": "synonym"
                },
                {
                    "name": "PAFAH alpha",
                    "type": "synonym"
                },
                {
                    "name": "Pafaha/Lis1",
                    "type": "synonym"
                },
                {
                    "name": "lissencephaly-1 protein",
                    "type": "synonym"
                },
                {
                    "name": "platelet-activating factor acetylhydrolase 1b, regulatory subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "platelet-activating factor acetylhydrolase 45kD subunit",
                    "type": "synonym"
                },
                {
                    "name": "platelet-activating factor acetylhydrolase IB subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "platelet-activating factor acetylhydrolase IB subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pafah1b1",
                    "type": "recommended"
                },
                {
                    "name": "LIS-1",
                    "type": "synonym"
                },
                {
                    "name": "Lis-1",
                    "type": "synonym"
                },
                {
                    "name": "Lis1",
                    "type": "synonym"
                },
                {
                    "name": "MMS10-U",
                    "type": "synonym"
                },
                {
                    "name": "Mdsh",
                    "type": "synonym"
                },
                {
                    "name": "Ms10u",
                    "type": "synonym"
                },
                {
                    "name": "Pafah1b1",
                    "type": "synonym"
                },
                {
                    "name": "Pafaha",
                    "type": "synonym"
                }
            ],
            "record_id": "P63005-1",
            "evidence": [
                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62259-1",
            "uniprot_ac": "P62259",
            "uniprot_id": "1433E_MOUSE",
            "refseq_ac": "NP_033562",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "14-3-3 protein epsilon",
                    "type": "recommended"
                },
                {
                    "name": "14-3-3 epsilon",
                    "type": "synonym"
                },
                {
                    "name": "14-3-3 protein epsilon",
                    "type": "synonym"
                },
                {
                    "name": "14-3-3E",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activatioprotein, epsilon polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ywhae",
                    "type": "recommended"
                },
                {
                    "name": "Ywhae",
                    "type": "synonym"
                }
            ],
            "record_id": "P62259-1",
            "evidence": [
                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08789-1",
            "uniprot_ac": "O08789",
            "uniprot_id": "MNT_MOUSE",
            "refseq_ac": "NP_034943",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Max-binding protein MNT",
                    "type": "recommended"
                },
                {
                    "name": "Myc antagonist MNT",
                    "type": "synonym"
                },
                {
                    "name": "Protein ROX",
                    "type": "synonym"
                },
                {
                    "name": "max-binding protein MNT",
                    "type": "synonym"
                },
                {
                    "name": "myc antagonist MNT",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mnt",
                    "type": "recommended"
                },
                {
                    "name": "Mnt",
                    "type": "synonym"
                },
                {
                    "name": "Rox",
                    "type": "synonym"
                },
                {
                    "name": "bHLHd3",
                    "type": "synonym"
                }
            ],
            "record_id": "O08789-1",
            "evidence": [
                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5NCQ5-1",
            "uniprot_ac": "Q5NCQ5",
            "uniprot_id": "DPH1_MOUSE",
            "refseq_ac": "NP_652762",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "2.5.1.108",
                    "type": "synonym"
                },
                {
                    "name": "DPH1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "DPH2-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Diphthamide biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Diphtheria toxin resistance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Ovarian cancer-associated gene 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "diphthamide biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "diphthamide biosynthesis protein 2 homolog-like 1",
                    "type": "synonym"
                },
                {
                    "name": "diphtheria toxin resistance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "diptheria toxin resistance protein required for diphthamide biosynthesis (Saccharomyces)-like 1",
                    "type": "synonym"
                },
                {
                    "name": "mmDph1",
                    "type": "synonym"
                },
                {
                    "name": "ovarian cancer-associated gene 1 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dph1",
                    "type": "recommended"
                },
                {
                    "name": "2310011M22Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930488F09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dph1",
                    "type": "synonym"
                },
                {
                    "name": "Dph2l1",
                    "type": "synonym"
                },
                {
                    "name": "Ovca1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5NCQ5-1",
            "evidence": [
                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R1Y5-1",
            "uniprot_ac": "Q9R1Y5",
            "uniprot_id": "HIC1_MOUSE",
            "refseq_ac": "NP_001091673",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hypermethylated in cancer 1 protein",
                    "type": "recommended"
                },
                {
                    "name": "Hic-1",
                    "type": "synonym"
                },
                {
                    "name": "hypermethylated in cancer 1 protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "hypermethylated in cancer 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hic1",
                    "type": "recommended"
                },
                {
                    "name": "HIC-1",
                    "type": "synonym"
                },
                {
                    "name": "Hic1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R1Y5-1",
            "evidence": [
                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43034-1",
            "uniprot_ac": "P43034",
            "uniprot_id": "LIS1_HUMAN",
            "refseq_ac": "NP_000421",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Platelet-activating factor acetylhydrolase IB subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "LIS-1",
                    "type": "synonym"
                },
                {
                    "name": "Lissencephaly-1 protein",
                    "type": "synonym"
                },
                {
                    "name": "PAF acetylhydrolase 45 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "PAF-AH 45 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "PAF-AH alpha",
                    "type": "synonym"
                },
                {
                    "name": "PAFAH alpha",
                    "type": "synonym"
                },
                {
                    "name": "lissencephaly 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)",
                    "type": "synonym"
                },
                {
                    "name": "platelet-activating factor acetylhydrolase IB subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PAFAH1B1",
                    "type": "recommended"
                },
                {
                    "name": "LIS1",
                    "type": "synonym"
                },
                {
                    "name": "LIS2",
                    "type": "synonym"
                },
                {
                    "name": "MDCR",
                    "type": "synonym"
                },
                {
                    "name": "MDS",
                    "type": "synonym"
                },
                {
                    "name": "NudF",
                    "type": "synonym"
                },
                {
                    "name": "PAFAH1B1",
                    "type": "synonym"
                },
                {
                    "name": "PAFAHA",
                    "type": "synonym"
                },
                {
                    "name": "PAFAH",
                    "type": "synonym"
                }
            ],
            "record_id": "P43034-1",
            "evidence": [
                {
                    "id": "247200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/247200"
                },
                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40487-1",
            "uniprot_ac": "P40487",
            "uniprot_id": "DPH1_YEAST",
            "refseq_ac": "NP_012163",
            "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": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "2-(3-amino-3-carboxypropyl)histidine synthase",
                    "type": "synonym"
                },
                {
                    "name": "2.5.1.108",
                    "type": "synonym"
                },
                {
                    "name": "Diphthamide biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Diphtheria toxin resistance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DPH1",
                    "type": "recommended"
                },
                {
                    "name": "DPH1",
                    "type": "synonym"
                }
            ],
            "record_id": "P40487-1",
            "evidence": [
                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39946-1",
            "uniprot_ac": "P39946",
            "uniprot_id": "LIS1_YEAST",
            "refseq_ac": "NP_014912",
            "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": "Nuclear distribution protein PAC1",
                    "type": "recommended"
                },
                {
                    "name": "LIS-1",
                    "type": "synonym"
                },
                {
                    "name": "Lissencephaly-1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Pac1p",
                    "type": "synonym"
                },
                {
                    "name": "nudF homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PAC1",
                    "type": "recommended"
                },
                {
                    "name": "LIS1",
                    "type": "synonym"
                },
                {
                    "name": "PAC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P39946-1",
            "evidence": [
                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29311-1",
            "uniprot_ac": "P29311",
            "uniprot_id": "BMH1_YEAST",
            "refseq_ac": "NP_011104",
            "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 BMH1",
                    "type": "recommended"
                },
                {
                    "name": "14-3-3 family protein BMH1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BMH1",
                    "type": "recommended"
                },
                {
                    "name": "APR6",
                    "type": "synonym"
                },
                {
                    "name": "BMH1",
                    "type": "synonym"
                }
            ],
            "record_id": "P29311-1",
            "evidence": [
                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P34730-1",
            "uniprot_ac": "P34730",
            "uniprot_id": "BMH2_YEAST",
            "refseq_ac": "NP_010384",
            "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 BMH2",
                    "type": "recommended"
                },
                {
                    "name": "14-3-3 family protein BMH2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BMH2",
                    "type": "recommended"
                },
                {
                    "name": "BMH2",
                    "type": "synonym"
                },
                {
                    "name": "SCD3",
                    "type": "synonym"
                },
                {
                    "name": "YD8557.08",
                    "type": "synonym"
                }
            ],
            "record_id": "P34730-1",
            "evidence": [
                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A974-1",
            "uniprot_ac": "D4A974",
            "uniprot_id": "D4A974_RAT",
            "refseq_ac": "NP_001409822",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hypermethylated in cancer 1 protein",
                    "type": "recommended"
                },
                {
                    "name": "hypermethylated in cancer 1 protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "hypermethylated in cancer 1 protein-like",
                    "type": "synonym"
                },
                {
                    "name": "hypermethylated in cancer 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hic1",
                    "type": "recommended"
                },
                {
                    "name": "Hic1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A974-1",
            "evidence": [
                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K269-1",
            "uniprot_ac": "A0A0G2K269",
            "uniprot_id": "A0A0G2K269_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": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.108",
                    "type": "synonym"
                },
                {
                    "name": "Diphthamide biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Diphtheria toxin resistance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Ovarian cancer-associated gene 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dph1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2K269-1",
            "evidence": [
                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63004-1",
            "uniprot_ac": "P63004",
            "uniprot_id": "LIS1_RAT",
            "refseq_ac": "NP_113951",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Platelet-activating factor acetylhydrolase IB subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "LIS-1",
                    "type": "synonym"
                },
                {
                    "name": "Lissencephaly-1 protein",
                    "type": "synonym"
                },
                {
                    "name": "PAF acetylhydrolase 45 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "PAF-AH 45 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "PAF-AH alpha",
                    "type": "synonym"
                },
                {
                    "name": "PAF-AH beta",
                    "type": "synonym"
                },
                {
                    "name": "PAFAH alpha",
                    "type": "synonym"
                },
                {
                    "name": "lissencephaly-1 protein",
                    "type": "synonym"
                },
                {
                    "name": "platelet-activating factor acetylhydrolase IB subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "platelet-activating factor acetylhydrolase beta subunit (PAF-AH beta)",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Pafah1b1",
                    "type": "recommended"
                },
                {
                    "name": "LIS1",
                    "type": "synonym"
                },
                {
                    "name": "Lis-1",
                    "type": "synonym"
                },
                {
                    "name": "Lis1",
                    "type": "synonym"
                },
                {
                    "name": "Pafah1b1",
                    "type": "synonym"
                },
                {
                    "name": "Pafaha",
                    "type": "synonym"
                }
            ],
            "record_id": "P63004-1",
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                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62260-1",
            "uniprot_ac": "P62260",
            "uniprot_id": "1433E_RAT",
            "refseq_ac": "NP_113791",
            "glycoprotein": "yes",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "14-3-3 protein epsilon",
                    "type": "recommended"
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                {
                    "name": "14-3-3 epsilon",
                    "type": "synonym"
                },
                {
                    "name": "14-3-3 protein epsilon",
                    "type": "synonym"
                },
                {
                    "name": "14-3-3E",
                    "type": "synonym"
                },
                {
                    "name": "MSF L",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial import stimulation factor L subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial import stimulation factor (MSF) L subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial import stimulation factor L subunit",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activatioprotein epsilon polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ywhae",
                    "type": "recommended"
                },
                {
                    "name": "14-3-3e",
                    "type": "synonym"
                },
                {
                    "name": "Ywhae",
                    "type": "synonym"
                }
            ],
            "record_id": "P62260-1",
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                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
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        {
            "uniprot_canonical_ac": "A0ABK0LFP2-1",
            "uniprot_ac": "A0ABK0LFP2",
            "uniprot_id": "A0ABK0LFP2_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Esterase OVCA2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.1",
                    "type": "synonym"
                },
                {
                    "name": "OVCA2 serine hydrolase domain-containing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ovca2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LFP2-1",
            "evidence": [
                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
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        {
            "uniprot_canonical_ac": "A0A0U1RRY7-1",
            "uniprot_ac": "A0A0U1RRY7",
            "uniprot_id": "A0A0U1RRY7_RAT",
            "refseq_ac": "NP_001099277",
            "glycoprotein": "yes",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Max-binding protein MNT",
                    "type": "recommended"
                },
                {
                    "name": "MNT, MAX dimerization protein",
                    "type": "synonym"
                },
                {
                    "name": "Myc antagonist MNT",
                    "type": "synonym"
                },
                {
                    "name": "Protein ROX",
                    "type": "synonym"
                },
                {
                    "name": "max binding protein",
                    "type": "synonym"
                },
                {
                    "name": "max-binding protein MNT",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mnt",
                    "type": "recommended"
                },
                {
                    "name": "Mnt",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0U1RRY7-1",
            "evidence": [
                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38552-1",
            "uniprot_ac": "P38552",
            "uniprot_id": "LEG4_RAT",
            "refseq_ac": "NP_037107",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Galectin-4",
                    "type": "recommended"
                },
                {
                    "name": "Gal-4",
                    "type": "synonym"
                },
                {
                    "name": "L-36 lactose-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "L36LBP",
                    "type": "synonym"
                },
                {
                    "name": "Lactose-binding lectin 4",
                    "type": "synonym"
                },
                {
                    "name": "Lectin, galactose binding, soluble 4 (Galectin-4)",
                    "type": "synonym"
                },
                {
                    "name": "gal-4",
                    "type": "synonym"
                },
                {
                    "name": "galectin-4",
                    "type": "synonym"
                },
                {
                    "name": "lactose-binding lectin 4",
                    "type": "synonym"
                },
                {
                    "name": "lectin, galactoside-binding, soluble, 4 (galectin 4)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lgals4",
                    "type": "recommended"
                },
                {
                    "name": "L-36",
                    "type": "synonym"
                },
                {
                    "name": "L36LBI",
                    "type": "synonym"
                },
                {
                    "name": "Lgals4",
                    "type": "synonym"
                }
            ],
            "record_id": "P38552-1",
            "evidence": [
                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VTM2-1",
            "uniprot_ac": "Q9VTM2",
            "uniprot_id": "Q9VTM2_DROME",
            "refseq_ac": "NP_001261722",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.108",
                    "type": "synonym"
                },
                {
                    "name": "CG11652-PC",
                    "type": "synonym"
                },
                {
                    "name": "Diphthamide biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Diphtheria toxin resistance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Dph1-PC",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "diphthamide biosynthesis 1, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "diphthamide biosynthesis-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dph1",
                    "type": "recommended"
                },
                {
                    "name": "CG11652",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11652",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11652",
                    "type": "synonym"
                },
                {
                    "name": "Dph1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VTM2-1",
            "evidence": [
                {
                    "id": "0060469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KNS3-1",
            "uniprot_ac": "Q7KNS3",
            "uniprot_id": "LIS1_DROME",
            "refseq_ac": "NP_001246361",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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}