{
    "disease_id": "DOID:0081398",
    "recommended_name": {
        "id": "DOID:0081398",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081398",
        "name": "holoprosencephaly 12",
        "description": "A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21."
    },
    "synonyms": [
        {
            "id": "DOID:0081398",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081398",
            "name": "holoprosencephaly-12 with or without pancreatic agenesis",
            "description": ""
        },
        {
            "id": "MONDO:0032787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032787",
            "name": "holoprosencephaly 12 with or without pancreatic agenesis",
            "description": ""
        },
        {
            "id": "MONDO:0032787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032787",
            "name": "holoprosencephaly 12, with or without pancreatic agenesis",
            "description": ""
        },
        {
            "id": "MONDO:0032787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032787",
            "name": "HPE12",
            "description": ""
        },
        {
            "id": "MIM:618500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618500",
            "name": "Holoprosencephaly 12 with or without pancreatic agenesis",
            "description": "Holoprosencephaly 12 with or without pancreatic agenesis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081398"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081398",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081398",
            "categories": []
        },
        {
            "id": "MONDO:0032787",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032787",
            "categories": []
        },
        {
            "id": "MIM:618500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A1A5H6-1",
            "uniprot_ac": "A1A5H6",
            "uniprot_id": "CNOT1_DANRE",
            "refseq_ac": "NP_001073420",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCR4-NOT transcription complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "CCR4-NOT transcription complex subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "CCR4-associated factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cnot1",
                    "type": "recommended"
                },
                {
                    "name": "cdc39-like",
                    "type": "synonym"
                },
                {
                    "name": "cnot1",
                    "type": "synonym"
                },
                {
                    "name": "im:7141761",
                    "type": "synonym"
                },
                {
                    "name": "kiaa1007l",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc58h04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152902",
                    "type": "synonym"
                }
            ],
            "record_id": "A1A5H6-1",
            "evidence": [
                {
                    "id": "0081398",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081398"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZQ08-1",
            "uniprot_ac": "Q6ZQ08",
            "uniprot_id": "CNOT1_MOUSE",
            "refseq_ac": "NP_835179",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCR4-NOT transcription complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "CCR4-NOT transcription complex subunit 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "CCR4-associated factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cnot1",
                    "type": "recommended"
                },
                {
                    "name": "6030411K04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cnot1",
                    "type": "synonym"
                },
                {
                    "name": "D830048B13",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1007",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZQ08-1",
            "evidence": [
                {
                    "id": "0081398",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081398"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A5YKK6-1",
            "uniprot_ac": "A5YKK6",
            "uniprot_id": "CNOT1_HUMAN",
            "refseq_ac": "NP_001252541",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCR4-NOT transcription complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "CCR4-NOT transcription complex subunit 1 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "CCR4-associated factor 1",
                    "type": "synonym"
                },
                {
                    "name": "NOT1 (negative regulator of transcription 1, yeast) homolog",
                    "type": "synonym"
                },
                {
                    "name": "NOT1H",
                    "type": "synonym"
                },
                {
                    "name": "Negative regulator of transcription subunit 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "adrenal gland protein AD-005",
                    "type": "synonym"
                },
                {
                    "name": "hNOT1",
                    "type": "synonym"
                },
                {
                    "name": "negative regulator of transcription subunit 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CNOT1",
                    "type": "recommended"
                },
                {
                    "name": "AD-005",
                    "type": "synonym"
                },
                {
                    "name": "CDC39",
                    "type": "synonym"
                },
                {
                    "name": "CNOT1",
                    "type": "synonym"
                },
                {
                    "name": "HPE12",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1007",
                    "type": "synonym"
                },
                {
                    "name": "NOT1H",
                    "type": "synonym"
                },
                {
                    "name": "NOT1",
                    "type": "synonym"
                },
                {
                    "name": "VIBOS",
                    "type": "synonym"
                }
            ],
            "record_id": "A5YKK6-1",
            "evidence": [
                {
                    "id": "618500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618500"
                },
                {
                    "id": "0081398",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081398"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25655-1",
            "uniprot_ac": "P25655",
            "uniprot_id": "NOT1_YEAST",
            "refseq_ac": "NP_010017",
            "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": "General negative regulator of transcription subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "CCR4-NOT core subunit CDC39",
                    "type": "synonym"
                },
                {
                    "name": "Cell division cycle protein 39",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDC39",
                    "type": "recommended"
                },
                {
                    "name": "CDC39",
                    "type": "synonym"
                },
                {
                    "name": "NOT1",
                    "type": "synonym"
                },
                {
                    "name": "ROS1",
                    "type": "synonym"
                },
                {
                    "name": "SMD6",
                    "type": "synonym"
                },
                {
                    "name": "YCR1151",
                    "type": "synonym"
                },
                {
                    "name": "YCR93W",
                    "type": "synonym"
                }
            ],
            "record_id": "P25655-1",
            "evidence": [
                {
                    "id": "0081398",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081398"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V7M0-1",
            "uniprot_ac": "G3V7M0",
            "uniprot_id": "G3V7M0_RAT",
            "refseq_ac": "NP_001128312",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCR4-NOT transcription complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "CCR4-NOT transcription complex subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "CCR4-associated factor 1",
                    "type": "synonym"
                },
                {
                    "name": "adrenal gland protein AD-005",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cnot1",
                    "type": "recommended"
                },
                {
                    "name": "Cnot1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1308009",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V7M0-1",
            "evidence": [
                {
                    "id": "0081398",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081398"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4LEZ3-1",
            "uniprot_ac": "A0A0B4LEZ3",
            "uniprot_id": "A0A0B4LEZ3_DROME",
            "refseq_ac": "NP_001286252",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG34407-PH",
                    "type": "synonym"
                },
                {
                    "name": "Not1, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "Not1-PH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Not1",
                    "type": "recommended"
                },
                {
                    "name": "CG1874",
                    "type": "synonym"
                },
                {
                    "name": "CG1884",
                    "type": "synonym"
                },
                {
                    "name": "CG34407",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34407",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34407",
                    "type": "synonym"
                },
                {
                    "name": "NOT1",
                    "type": "synonym"
                },
                {
                    "name": "NOT",
                    "type": "synonym"
                },
                {
                    "name": "Not1",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-1.29",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.221",
                    "type": "synonym"
                },
                {
                    "name": "clone 1.29",
                    "type": "synonym"
                },
                {
                    "name": "not1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4LEZ3-1",
            "evidence": [
                {
                    "id": "0081398",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081398"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081398"
}