{
    "disease_id": "DOID:0110698",
    "recommended_name": {
        "id": "DOID:0110698",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110698",
        "name": "hypotrichosis 1",
        "description": "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the APCDD1 gene on chromosome 18p11.22."
    },
    "synonyms": [
        {
            "id": "DOID:0110698",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110698",
            "name": "HHS",
            "description": ""
        },
        {
            "id": "DOID:0110698",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110698",
            "name": "hereditary generalized hypotrichosis simplex",
            "description": ""
        },
        {
            "id": "DOID:0110698",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110698",
            "name": "HTS",
            "description": ""
        },
        {
            "id": "DOID:0110698",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110698",
            "name": "HYPT1",
            "description": ""
        },
        {
            "id": "MONDO:0011549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011549",
            "name": "hypotrichosis 1",
            "description": "Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene."
        },
        {
            "id": "MONDO:0011549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011549",
            "name": "HHS",
            "description": ""
        },
        {
            "id": "MONDO:0011549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011549",
            "name": "APCDD1 hypotrichosis",
            "description": ""
        },
        {
            "id": "MONDO:0011549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011549",
            "name": "HTS",
            "description": ""
        },
        {
            "id": "MONDO:0011549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011549",
            "name": "HYPT1",
            "description": ""
        },
        {
            "id": "MONDO:0011549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011549",
            "name": "hereditary generalised hypotrichosis simplex",
            "description": ""
        },
        {
            "id": "MONDO:0011549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011549",
            "name": "hypotrichosis 1",
            "description": ""
        },
        {
            "id": "MONDO:0011549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011549",
            "name": "hypotrichosis caused by mutation in APCDD1",
            "description": ""
        },
        {
            "id": "MONDO:0011549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011549",
            "name": "hypotrichosis type 1",
            "description": ""
        },
        {
            "id": "MIM:605389",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605389",
            "name": "Hypotrichosis 1",
            "description": "Hypotrichosis 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110698"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110698",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110698",
            "categories": []
        },
        {
            "id": "MONDO:0011549",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011549",
            "categories": []
        },
        {
            "id": "MIM:605389",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605389",
            "categories": []
        }
    ],
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            "uniprot_ac": "Q7ZUG0",
            "uniprot_id": "RUXE_DANRE",
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            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Small nuclear ribonucleoprotein E",
                    "type": "recommended"
                },
                {
                    "name": "Sm protein E",
                    "type": "synonym"
                },
                {
                    "name": "Sm-E",
                    "type": "synonym"
                },
                {
                    "name": "SmE",
                    "type": "synonym"
                },
                {
                    "name": "sm protein E",
                    "type": "synonym"
                },
                {
                    "name": "sm-E",
                    "type": "synonym"
                },
                {
                    "name": "smE",
                    "type": "synonym"
                },
                {
                    "name": "small nuclear ribonucleoprotein E",
                    "type": "synonym"
                },
                {
                    "name": "snRNP-E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "snrpe",
                    "type": "recommended"
                },
                {
                    "name": "snrpe",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56682",
                    "type": "synonym"
                }
            ],
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                }
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        },
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            "uniprot_ac": "Q3U128",
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Protein APCDD1",
                    "type": "recommended"
                },
                {
                    "name": "Adenomatosis polyposis coli down-regulated 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "adenomatosis polyposis coli down-regulated 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "ethanol induced gene product EIG180",
                    "type": "synonym"
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                {
                    "name": "protein APCDD1 precursor",
                    "type": "synonym"
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                {
                    "name": "protein APCDD1",
                    "type": "synonym"
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            ],
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                    "name": "Apcdd1",
                    "type": "recommended"
                },
                {
                    "name": "Apcdd1",
                    "type": "synonym"
                },
                {
                    "name": "Drapc1",
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                },
                {
                    "name": "EIG180",
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                    "id": "0110698",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Small nuclear ribonucleoprotein E",
                    "type": "recommended"
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                    "name": "Sm protein E",
                    "type": "synonym"
                },
                {
                    "name": "Sm-E",
                    "type": "synonym"
                },
                {
                    "name": "SmE",
                    "type": "synonym"
                },
                {
                    "name": "sm protein E",
                    "type": "synonym"
                },
                {
                    "name": "small nuclear ribonucleoprotein E",
                    "type": "synonym"
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                {
                    "name": "snRNP-E",
                    "type": "synonym"
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            ],
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                {
                    "name": "Snrpe",
                    "type": "recommended"
                },
                {
                    "name": "SME",
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                },
                {
                    "name": "Snrpe",
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                    "name": "sm-E",
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        {
            "uniprot_canonical_ac": "Q8J025-1",
            "uniprot_ac": "Q8J025",
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            "refseq_ac": "NP_694545",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Protein APCDD1",
                    "type": "recommended"
                },
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                    "name": "Adenomatosis polyposis coli down-regulated 1 protein",
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                },
                {
                    "name": "adenomatosis polyposis coli down-regulated 1 protein",
                    "type": "synonym"
                },
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                    "name": "hypoptrichosis simplex",
                    "type": "synonym"
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                {
                    "name": "protein APCDD1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein APCDD1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "APCDD1",
                    "type": "recommended"
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                    "name": "APCDD1",
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                    "name": "B7323",
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                {
                    "name": "DRAPC1",
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                    "name": "FP7019",
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                    "name": "HHS",
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                    "name": "Small nuclear ribonucleoprotein E",
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                    "name": "Protein APCDD1",
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                    "name": "APC down-regulated 1 precursor",
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                    "name": "adenomatosis polyposis coli down-regulated 1",
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                    "name": "Apcdd1",
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                    "name": "Small nuclear ribonucleoprotein E",
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                    "name": "Snrpepl2",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                }
            ],
            "protein_names": [
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                    "name": "Probable small nuclear ribonucleoprotein E",
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                    "id": "0110698",
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                    "name": "Sm-E",
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                    "name": "SmE",
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                    "name": "sm protein E",
                    "type": "synonym"
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                {
                    "name": "small nuclear ribonucleoprotein E isoform 2",
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                    "name": "snRNP-E",
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                    "name": "HYPT11",
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                    "id": "0110698",
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110698"
}