{
    "disease_id": "DOID:0060689",
    "recommended_name": {
        "id": "DOID:0060689",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060689",
        "name": "atrichia with papular lesions",
        "description": "An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0060689",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060689",
            "name": "papular atrichia",
            "description": ""
        },
        {
            "id": "MONDO:0008847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008847",
            "name": "atrichia with papular lesions",
            "description": "Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities."
        },
        {
            "id": "MONDO:0008847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008847",
            "name": "atrichia with papular lesions",
            "description": ""
        },
        {
            "id": "MONDO:0008847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008847",
            "name": "papular atrichia",
            "description": ""
        },
        {
            "id": "MONDO:0008847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008847",
            "name": "APL",
            "description": ""
        },
        {
            "id": "MIM:209500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/209500",
            "name": "Atrichia with papular lesions",
            "description": "Atrichia with papular lesions"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060689"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060689",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060689",
            "categories": []
        },
        {
            "id": "MONDO:0008847",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008847",
            "categories": []
        },
        {
            "id": "MIM:209500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/209500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61645-1",
            "uniprot_ac": "Q61645",
            "uniprot_id": "HAIR_MOUSE",
            "refseq_ac": "NP_068677",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysine-specific demethylase hairless",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.65",
                    "type": "synonym"
                },
                {
                    "name": "[histone H3]-dimethyl-L-lysine(9) demethylase hairless",
                    "type": "synonym"
                },
                {
                    "name": "lysine demethylase and nuclear receptor corepressor",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific demethylase hairless",
                    "type": "synonym"
                },
                {
                    "name": "protein hairless",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hr",
                    "type": "recommended"
                },
                {
                    "name": "ALUNC",
                    "type": "synonym"
                },
                {
                    "name": "Hr",
                    "type": "synonym"
                },
                {
                    "name": "bldy",
                    "type": "synonym"
                },
                {
                    "name": "rh-bmh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61645-1",
            "evidence": [
                {
                    "id": "0060689",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060689"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00860-1",
            "uniprot_ac": "P00860",
            "uniprot_id": "DCOR_MOUSE",
            "refseq_ac": "NP_038642",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ornithine decarboxylase",
                    "type": "recommended"
                },
                {
                    "name": "4.1.1.17",
                    "type": "synonym"
                },
                {
                    "name": "ODC",
                    "type": "synonym"
                },
                {
                    "name": "ornithine decarboxylase isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Odc1",
                    "type": "recommended"
                },
                {
                    "name": "ODC",
                    "type": "synonym"
                },
                {
                    "name": "Odc1",
                    "type": "synonym"
                },
                {
                    "name": "Odc",
                    "type": "synonym"
                }
            ],
            "record_id": "P00860-1",
            "evidence": [
                {
                    "id": "0060689",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060689"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43593-1",
            "uniprot_ac": "O43593",
            "uniprot_id": "HAIR_HUMAN",
            "refseq_ac": "NP_005135",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysine-specific demethylase hairless",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.65",
                    "type": "synonym"
                },
                {
                    "name": "[histone H3]-dimethyl-L-lysine(9) demethylase hairless",
                    "type": "synonym"
                },
                {
                    "name": "hair growth associated",
                    "type": "synonym"
                },
                {
                    "name": "hairless homolog",
                    "type": "synonym"
                },
                {
                    "name": "lysine demethylase 3D",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific demethylase hairless isoform a",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific demethylase hairless",
                    "type": "synonym"
                },
                {
                    "name": "protein hairless",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HR",
                    "type": "recommended"
                },
                {
                    "name": "ALUNC",
                    "type": "synonym"
                },
                {
                    "name": "AU",
                    "type": "synonym"
                },
                {
                    "name": "HR",
                    "type": "synonym"
                },
                {
                    "name": "HSA277165",
                    "type": "synonym"
                },
                {
                    "name": "HYPT4",
                    "type": "synonym"
                },
                {
                    "name": "KDM3D",
                    "type": "synonym"
                },
                {
                    "name": "MUHH1",
                    "type": "synonym"
                },
                {
                    "name": "MUHH",
                    "type": "synonym"
                }
            ],
            "record_id": "O43593-1",
            "evidence": [
                {
                    "id": "209500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/209500"
                },
                {
                    "id": "0060689",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060689"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08432-1",
            "uniprot_ac": "P08432",
            "uniprot_id": "DCOR_YEAST",
            "refseq_ac": "NP_012737",
            "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": "Ornithine decarboxylase",
                    "type": "recommended"
                },
                {
                    "name": "4.1.1.17",
                    "type": "synonym"
                },
                {
                    "name": "ODC",
                    "type": "synonym"
                },
                {
                    "name": "ornithine decarboxylase SPE1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPE1",
                    "type": "recommended"
                },
                {
                    "name": "ORD1",
                    "type": "synonym"
                },
                {
                    "name": "SPE10",
                    "type": "synonym"
                },
                {
                    "name": "SPE1",
                    "type": "synonym"
                }
            ],
            "record_id": "P08432-1",
            "evidence": [
                {
                    "id": "0060689",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060689"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97609-1",
            "uniprot_ac": "P97609",
            "uniprot_id": "HAIR_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysine-specific demethylase hairless",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.65",
                    "type": "synonym"
                },
                {
                    "name": "[histone H3]-dimethyl-L-lysine(9) demethylase hairless",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hr",
                    "type": "recommended"
                }
            ],
            "record_id": "P97609-1",
            "evidence": [
                {
                    "id": "0060689",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060689"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09057-1",
            "uniprot_ac": "P09057",
            "uniprot_id": "DCOR_RAT",
            "refseq_ac": "NP_001289012",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ornithine decarboxylase",
                    "type": "recommended"
                },
                {
                    "name": "4.1.1.17",
                    "type": "synonym"
                },
                {
                    "name": "ODC",
                    "type": "synonym"
                },
                {
                    "name": "Ornitine decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "ornithine decarboxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Odc1",
                    "type": "recommended"
                },
                {
                    "name": "Odc1",
                    "type": "synonym"
                },
                {
                    "name": "Odc",
                    "type": "synonym"
                }
            ],
            "record_id": "P09057-1",
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                {
                    "id": "0060689",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060689"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VHC5-1",
            "uniprot_ac": "Q9VHC5",
            "uniprot_id": "KDM3_DROME",
            "refseq_ac": "NP_001287255",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysine-specific demethylase 3",
                    "type": "recommended"
                },
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                    "name": "1.14.11.65",
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                },
                {
                    "name": "CG8165-PB",
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                {
                    "name": "JmjC domain-containing histone demethylase 2",
                    "type": "synonym"
                },
                {
                    "name": "Kdm3-PB",
                    "type": "synonym"
                },
                {
                    "name": "lysine demethylase 3, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kdm3",
                    "type": "recommended"
                },
                {
                    "name": "CG31123",
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                },
                {
                    "name": "CG8165",
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                },
                {
                    "name": "Dmel\\CG8165",
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                },
                {
                    "name": "JHDM2",
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                },
                {
                    "name": "KDM3",
                    "type": "synonym"
                },
                {
                    "name": "Kdm3",
                    "type": "synonym"
                },
                {
                    "name": "kdm3",
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                }
            ],
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                {
                    "id": "0060689",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060689"
                }
            ]
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            "uniprot_canonical_ac": "P40807-1",
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            "uniprot_id": "DCOR1_DROME",
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                {
                    "name": "Drosophila melanogaster",
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                }
            ],
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                {
                    "name": "Ornithine decarboxylase 1",
                    "type": "recommended"
                },
                {
                    "name": "4.1.1.17",
                    "type": "synonym"
                },
                {
                    "name": "CG8721-PA",
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                {
                    "name": "ODC",
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                },
                {
                    "name": "Odc1-PA",
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                {
                    "name": "ornithine decarboxylase 1",
                    "type": "synonym"
                },
                {
                    "name": "ornithine decarboxylase-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Odc1",
                    "type": "recommended"
                },
                {
                    "name": "CG8721",
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                },
                {
                    "name": "Dmel\\CG8721",
                    "type": "synonym"
                },
                {
                    "name": "Odc-1",
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                {
                    "name": "Odc1",
                    "type": "synonym"
                },
                {
                    "name": "dodc1",
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            ],
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                {
                    "id": "0060689",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060689"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40808-1",
            "uniprot_ac": "P40808",
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                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ornithine decarboxylase 2",
                    "type": "recommended"
                },
                {
                    "name": "4.1.1.17",
                    "type": "synonym"
                },
                {
                    "name": "CG8719-PA",
                    "type": "synonym"
                },
                {
                    "name": "ODC",
                    "type": "synonym"
                },
                {
                    "name": "Odc2-PA",
                    "type": "synonym"
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                {
                    "name": "dODC2",
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                },
                {
                    "name": "ornithine decarboxylase 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Odc2",
                    "type": "recommended"
                },
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                    "name": "CG8719",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8719",
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                },
                {
                    "name": "Odc2",
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                {
                    "name": "dodc2",
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                }
            ],
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                {
                    "id": "0060689",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060689"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52799-1",
            "uniprot_ac": "P52799",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ephrin-B2",
                    "type": "recommended"
                },
                {
                    "name": "EPH-related receptor tyrosine kinase ligand 5",
                    "type": "synonym"
                },
                {
                    "name": "HTK ligand",
                    "type": "synonym"
                },
                {
                    "name": "HTK-L",
                    "type": "synonym"
                },
                {
                    "name": "LERK-5",
                    "type": "synonym"
                },
                {
                    "name": "eph-related receptor tyrosine kinase ligand 5",
                    "type": "synonym"
                },
                {
                    "name": "ephrin-B2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "ligand of eph-related kinase 5",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "EFNB2",
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                    "name": "EFNB2",
                    "type": "synonym"
                },
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                    "name": "EPLG5",
                    "type": "synonym"
                },
                {
                    "name": "HTKL",
                    "type": "synonym"
                },
                {
                    "name": "Htk-L",
                    "type": "synonym"
                },
                {
                    "name": "LERK5",
                    "type": "synonym"
                },
                {
                    "name": "ephrin-B2",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060689",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060689"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11926-1",
            "uniprot_ac": "P11926",
            "uniprot_id": "DCOR_HUMAN",
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            "glycoprotein": "no",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ornithine decarboxylase",
                    "type": "recommended"
                },
                {
                    "name": "4.1.1.17",
                    "type": "synonym"
                },
                {
                    "name": "ODC",
                    "type": "synonym"
                },
                {
                    "name": "ornithine decarboxylase isoform 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "ODC1",
                    "type": "recommended"
                },
                {
                    "name": "BABS",
                    "type": "synonym"
                },
                {
                    "name": "NEDBA",
                    "type": "synonym"
                },
                {
                    "name": "NEDBIA",
                    "type": "synonym"
                },
                {
                    "name": "ODC1",
                    "type": "synonym"
                },
                {
                    "name": "ODC",
                    "type": "synonym"
                }
            ],
            "record_id": "P11926-1",
            "evidence": [
                {
                    "id": "0060689",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060689"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060689"
}
