{
    "disease_id": "DOID:0110702",
    "recommended_name": {
        "id": "DOID:0110702",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110702",
        "name": "hypotrichosis 5",
        "description": "A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110702",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110702",
            "name": "Marie Unna Hereditary Hypotrichosis 2",
            "description": ""
        },
        {
            "id": "DOID:0110702",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110702",
            "name": "HYPT5",
            "description": ""
        },
        {
            "id": "DOID:0110702",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110702",
            "name": "MUHH2",
            "description": ""
        },
        {
            "id": "MONDO:0013017",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013017",
            "name": "hypotrichosis 5",
            "description": "A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3."
        },
        {
            "id": "MONDO:0013017",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013017",
            "name": "HYPT5",
            "description": ""
        },
        {
            "id": "MONDO:0013017",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013017",
            "name": "MUHH2",
            "description": ""
        },
        {
            "id": "MONDO:0013017",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013017",
            "name": "Marie Unna hereditary hypotrichosis 2",
            "description": ""
        },
        {
            "id": "MONDO:0013017",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013017",
            "name": "Muhh2",
            "description": ""
        },
        {
            "id": "MONDO:0013017",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013017",
            "name": "hypotrichosis 5",
            "description": ""
        },
        {
            "id": "MONDO:0013017",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013017",
            "name": "hypotrichosis type 5",
            "description": ""
        },
        {
            "id": "MONDO:0013017",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013017",
            "name": "hypt5",
            "description": ""
        },
        {
            "id": "MIM:612841",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612841",
            "name": "Hypotrichosis 5",
            "description": "Hypotrichosis 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110702"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110702",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110702",
            "categories": []
        },
        {
            "id": "MONDO:0013017",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013017",
            "categories": []
        },
        {
            "id": "MIM:612841",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612841",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "E7F362",
            "uniprot_id": "E7F362_DANRE",
            "refseq_ac": "XP_002666161",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epidermal growth factor receptor kinase substrate 8-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor receptor kinase substrate 8-like protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eps8l3a",
                    "type": "recommended"
                },
                {
                    "name": "eps8l3a",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F362-1",
            "evidence": [
                {
                    "id": "0110702",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110702"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B8JIS3-1",
            "uniprot_ac": "B8JIS3",
            "uniprot_id": "B8JIS3_DANRE",
            "refseq_ac": "NP_001315008",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "EPS8-like 3b",
                    "type": "synonym"
                },
                {
                    "name": "EPS8-like 3",
                    "type": "synonym"
                },
                {
                    "name": "Epidermal growth factor receptor kinase substrate 8-like protein 3b",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor receptor kinase substrate 8-like protein 3b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eps8l3b",
                    "type": "recommended"
                },
                {
                    "name": "eps8l3b",
                    "type": "synonym"
                },
                {
                    "name": "eps8l3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:64011",
                    "type": "synonym"
                }
            ],
            "record_id": "B8JIS3-1",
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                {
                    "id": "0110702",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110702"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91WL0-1",
            "uniprot_ac": "Q91WL0",
            "uniprot_id": "ES8L3_MOUSE",
            "refseq_ac": "NP_598628",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epidermal growth factor receptor kinase substrate 8-like protein 3",
                    "type": "recommended"
                },
                {
                    "name": "EPS8-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "EPS8-related protein 3",
                    "type": "synonym"
                },
                {
                    "name": "ESP8-like 3",
                    "type": "synonym"
                },
                {
                    "name": "Epidermal growth factor receptor pathway substrate 8-related protein 3",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor receptor kinase substrate 8-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor receptor pathway substrate 8 related protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eps8l3",
                    "type": "recommended"
                },
                {
                    "name": "Eps8l3",
                    "type": "synonym"
                },
                {
                    "name": "Eps8r3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91WL0-1",
            "evidence": [
                {
                    "id": "0110702",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110702"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TE67-1",
            "uniprot_ac": "Q8TE67",
            "uniprot_id": "ES8L3_HUMAN",
            "refseq_ac": "NP_001306881",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epidermal growth factor receptor kinase substrate 8-like protein 3",
                    "type": "recommended"
                },
                {
                    "name": "EPS8 like 3",
                    "type": "synonym"
                },
                {
                    "name": "EPS8-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "EPS8-related protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Epidermal growth factor receptor pathway substrate 8-related protein 3",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor receptor kinase substrate 8-like protein 3 isoform d",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor receptor kinase substrate 8-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor receptor pathway substrate 8-related protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EPS8L3",
                    "type": "recommended"
                },
                {
                    "name": "EPS8L3",
                    "type": "synonym"
                },
                {
                    "name": "EPS8R3",
                    "type": "synonym"
                },
                {
                    "name": "HYPT5",
                    "type": "synonym"
                },
                {
                    "name": "MUHH2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TE67-1",
            "evidence": [
                {
                    "id": "612841",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612841"
                },
                {
                    "id": "0110702",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110702"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R3R8-1",
            "uniprot_ac": "M0R3R8",
            "uniprot_id": "M0R3R8_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": "Epidermal growth factor receptor kinase substrate 8-like protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Epidermal growth factor receptor pathway substrate 8-related protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eps8l3",
                    "type": "recommended"
                }
            ],
            "record_id": "M0R3R8-1",
            "evidence": [
                {
                    "id": "0110702",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110702"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110702"
}