{
    "disease_id": "DOID:0081176",
    "recommended_name": {
        "id": "DOID:0081176",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081176",
        "name": "hypotonia, ataxia, and delayed development syndrome",
        "description": "A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26."
    },
    "synonyms": [
        {
            "id": "MONDO:0015021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015021",
            "name": "hypotonia, ataxia, and delayed development syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0015021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015021",
            "name": "EBF3 neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0015021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015021",
            "name": "HADDS",
            "description": ""
        },
        {
            "id": "MONDO:0015021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015021",
            "name": "developmental delay-ataxia-hypotonia-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0015021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015021",
            "name": "hypotonia, ataxia, and delayed development syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0015021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015021",
            "name": "hypotonia, ataxia, and delayed development syndrome; HADDS",
            "description": ""
        },
        {
            "id": "MIM:617330",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617330",
            "name": "Hypotonia, ataxia, and delayed development syndrome",
            "description": "Hypotonia, ataxia, and delayed development syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081176"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081176",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081176",
            "categories": []
        },
        {
            "id": "MONDO:0015021",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015021",
            "categories": []
        },
        {
            "id": "MIM:617330",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617330",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IWI1-1",
            "uniprot_ac": "A0A0R4IWI1",
            "uniprot_id": "COE1A_DANRE",
            "refseq_ac": "NP_001410899",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor COE1-A",
                    "type": "recommended"
                },
                {
                    "name": "Early B cell factor 1-A",
                    "type": "synonym"
                },
                {
                    "name": "early B cell factor 1-A",
                    "type": "synonym"
                },
                {
                    "name": "early B cell factor 1a",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor COE1-A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor COE1-A",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor COE1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ebf1a",
                    "type": "recommended"
                },
                {
                    "name": "ebf3a",
                    "type": "recommended"
                },
                {
                    "name": "ebf1a",
                    "type": "synonym"
                },
                {
                    "name": "ebf3",
                    "type": "synonym"
                },
                {
                    "name": "sb:eu427",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-38f1.1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158829",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IWI1-1",
            "evidence": [
                {
                    "id": "0081176",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081176"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08791-1",
            "uniprot_ac": "O08791",
            "uniprot_id": "COE3_MOUSE",
            "refseq_ac": "NP_001106886",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor COE3",
                    "type": "recommended"
                },
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                    "name": "EBF-3",
                    "type": "synonym"
                },
                {
                    "name": "Early B-cell factor 3",
                    "type": "synonym"
                },
                {
                    "name": "O/E-2",
                    "type": "synonym"
                },
                {
                    "name": "OE-2",
                    "type": "synonym"
                },
                {
                    "name": "Olf-1/EBF-like 2",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor COE3 isoform 1",
                    "type": "synonym"
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                    "name": "transcription factor COE3",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Ebf3",
                    "type": "recommended"
                },
                {
                    "name": "3110018A08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Coe3",
                    "type": "synonym"
                },
                {
                    "name": "Ebf3",
                    "type": "synonym"
                },
                {
                    "name": "O/E-2",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA4201",
                    "type": "synonym"
                }
            ],
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                    "id": "0081176",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0081176"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H4W6-1",
            "uniprot_ac": "Q9H4W6",
            "uniprot_id": "COE3_HUMAN",
            "refseq_ac": "NP_001005463",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor COE3",
                    "type": "recommended"
                },
                {
                    "name": "Collier, Olf and EBF transcription factor 3",
                    "type": "synonym"
                },
                {
                    "name": "EBF-3",
                    "type": "synonym"
                },
                {
                    "name": "Early B-cell factor 3",
                    "type": "synonym"
                },
                {
                    "name": "O/E-2",
                    "type": "synonym"
                },
                {
                    "name": "OE-2",
                    "type": "synonym"
                },
                {
                    "name": "Olf-1/EBF-like 2",
                    "type": "synonym"
                },
                {
                    "name": "early B cell factor 3",
                    "type": "synonym"
                },
                {
                    "name": "olf-1/EBF-like 2",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor COE3 isoform 6",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor COE3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EBF3",
                    "type": "recommended"
                },
                {
                    "name": "COE3",
                    "type": "synonym"
                },
                {
                    "name": "EBF-3",
                    "type": "synonym"
                },
                {
                    "name": "EBF3",
                    "type": "synonym"
                },
                {
                    "name": "HADDS",
                    "type": "synonym"
                },
                {
                    "name": "O/E-2",
                    "type": "synonym"
                },
                {
                    "name": "OE-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H4W6-1",
            "evidence": [
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                    "id": "617330",
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                    "url": "https://www.omim.org/entry/617330"
                },
                {
                    "id": "0081176",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081176"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q63398-1",
            "uniprot_ac": "Q63398",
            "uniprot_id": "COE1_RAT",
            "refseq_ac": "NP_446272",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor COE1",
                    "type": "recommended"
                },
                {
                    "name": "Early B-cell factor",
                    "type": "synonym"
                },
                {
                    "name": "O/E-1",
                    "type": "synonym"
                },
                {
                    "name": "OE-1",
                    "type": "synonym"
                },
                {
                    "name": "Olf-1",
                    "type": "synonym"
                },
                {
                    "name": "Olfactory neuronal transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "early B-cell factor (olfactory neuronal transcription factor 1)",
                    "type": "synonym"
                },
                {
                    "name": "early B-cell factor 1",
                    "type": "synonym"
                },
                {
                    "name": "o/E-1",
                    "type": "synonym"
                },
                {
                    "name": "olf-1",
                    "type": "synonym"
                },
                {
                    "name": "olfactory neuronal transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor COE1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ebf1",
                    "type": "recommended"
                },
                {
                    "name": "Ebf3",
                    "type": "recommended"
                },
                {
                    "name": "Coe1",
                    "type": "synonym"
                },
                {
                    "name": "Ebf1",
                    "type": "synonym"
                },
                {
                    "name": "Ebf",
                    "type": "synonym"
                },
                {
                    "name": "Olf1",
                    "type": "synonym"
                }
            ],
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                    "id": "0081176",
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            "uniprot_canonical_ac": "P56721-1",
            "uniprot_ac": "P56721",
            "uniprot_id": "COLL_DROME",
            "refseq_ac": "NP_524813",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
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                    "name": "Transcription factor collier",
                    "type": "recommended"
                },
                {
                    "name": "CG10197-PA",
                    "type": "synonym"
                },
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                    "name": "Collier-Knot",
                    "type": "synonym"
                },
                {
                    "name": "KNOT",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor knot",
                    "type": "synonym"
                },
                {
                    "name": "colier",
                    "type": "synonym"
                },
                {
                    "name": "collier/knot",
                    "type": "synonym"
                },
                {
                    "name": "early B cell factor",
                    "type": "synonym"
                },
                {
                    "name": "kn-PA",
                    "type": "synonym"
                },
                {
                    "name": "knot, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "knotted",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kn",
                    "type": "recommended"
                },
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                    "name": "CG10197",
                    "type": "synonym"
                },
                {
                    "name": "Col/Kn",
                    "type": "synonym"
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                {
                    "name": "Collier",
                    "type": "synonym"
                },
                {
                    "name": "Col",
                    "type": "synonym"
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                    "name": "DmCOE",
                    "type": "synonym"
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                    "name": "Dmel\\CG10197",
                    "type": "synonym"
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                    "name": "Dmel_CG10197",
                    "type": "synonym"
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                    "name": "Kn/Col",
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                    "name": "Knot",
                    "type": "synonym"
                },
                {
                    "name": "Kn",
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                },
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                    "name": "coe",
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                {
                    "name": "collier",
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                    "id": "0081176",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0081176"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081176"
}