{
    "disease_id": "DOID:0060365",
    "recommended_name": {
        "id": "DOID:0060365",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060365",
        "name": "mandibulofacial dysostosis with alopecia",
        "description": "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia."
    },
    "synonyms": [
        {
            "id": "DOID:0060365",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060365",
            "name": "MFDA",
            "description": ""
        },
        {
            "id": "MONDO:0014608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014608",
            "name": "mandibulofacial dysostosis with alopecia",
            "description": "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia."
        },
        {
            "id": "MONDO:0014608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014608",
            "name": "MFDA",
            "description": ""
        },
        {
            "id": "MONDO:0014608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014608",
            "name": "mandibulofacial dysostosis with alopecia",
            "description": ""
        },
        {
            "id": "MIM:616367",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616367",
            "name": "Mandibulofacial dysostosis with alopecia",
            "description": "Mandibulofacial dysostosis with alopecia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060365"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060365",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060365",
            "categories": []
        },
        {
            "id": "MONDO:0014608",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014608",
            "categories": []
        },
        {
            "id": "MIM:616367",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616367",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1P7F8-1",
            "uniprot_ac": "A0A8M1P7F8",
            "uniprot_id": "A0A8M1P7F8_DANRE",
            "refseq_ac": "NP_001297024",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelin-1 receptor",
                    "type": "recommended"
                },
                {
                    "name": "Endothelin receptor type A",
                    "type": "synonym"
                },
                {
                    "name": "ednrA1",
                    "type": "synonym"
                },
                {
                    "name": "endothelin receptor type Ab precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ednrab",
                    "type": "recommended"
                },
                {
                    "name": "ednrab",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85942",
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                }
            ],
            "record_id": "A0A8M1P7F8-1",
            "evidence": [
                {
                    "id": "0060365",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060365"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61614-1",
            "uniprot_ac": "Q61614",
            "uniprot_id": "EDNRA_MOUSE",
            "refseq_ac": "NP_034462",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelin-1 receptor",
                    "type": "recommended"
                },
                {
                    "name": "ET-AR",
                    "type": "synonym"
                },
                {
                    "name": "ET-A",
                    "type": "synonym"
                },
                {
                    "name": "Endothelin receptor type A",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor 10",
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                {
                    "name": "endothelin A receptor",
                    "type": "synonym"
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                    "name": "endothelin-1 receptor precursor",
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                    "name": "endothelin-1 receptor",
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            ],
            "gene_names": [
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                    "name": "Ednra",
                    "type": "recommended"
                },
                {
                    "name": "AEA001",
                    "type": "synonym"
                },
                {
                    "name": "ET-AR",
                    "type": "synonym"
                },
                {
                    "name": "ETa",
                    "type": "synonym"
                },
                {
                    "name": "Ednra",
                    "type": "synonym"
                },
                {
                    "name": "Gpcr10",
                    "type": "synonym"
                },
                {
                    "name": "Mhdaaea1",
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                }
            ],
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            "evidence": [
                {
                    "id": "0060365",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060365"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25101-1",
            "uniprot_ac": "P25101",
            "uniprot_id": "EDNRA_HUMAN",
            "refseq_ac": "NP_001159527",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Endothelin-1 receptor",
                    "type": "recommended"
                },
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                    "name": "ET-A",
                    "type": "synonym"
                },
                {
                    "name": "ETA-R",
                    "type": "synonym"
                },
                {
                    "name": "Endothelin receptor type A",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor",
                    "type": "synonym"
                },
                {
                    "name": "endothelin receptor subtype A",
                    "type": "synonym"
                },
                {
                    "name": "endothelin-1 receptor isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "endothelin-1-specific receptor",
                    "type": "synonym"
                },
                {
                    "name": "hET-AR",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EDNRA",
                    "type": "recommended"
                },
                {
                    "name": "EDNRA",
                    "type": "synonym"
                },
                {
                    "name": "ET-A",
                    "type": "synonym"
                },
                {
                    "name": "ETA-R",
                    "type": "synonym"
                },
                {
                    "name": "ETAR",
                    "type": "synonym"
                },
                {
                    "name": "ETA",
                    "type": "synonym"
                },
                {
                    "name": "ETRA",
                    "type": "synonym"
                },
                {
                    "name": "MFDA",
                    "type": "synonym"
                },
                {
                    "name": "hET-AR",
                    "type": "synonym"
                }
            ],
            "record_id": "P25101-1",
            "evidence": [
                {
                    "id": "616367",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616367"
                },
                {
                    "id": "0060365",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060365"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26684-1",
            "uniprot_ac": "P26684",
            "uniprot_id": "EDNRA_RAT",
            "refseq_ac": "NP_036682",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelin-1 receptor",
                    "type": "recommended"
                },
                {
                    "name": "ET-AR",
                    "type": "synonym"
                },
                {
                    "name": "ET-A",
                    "type": "synonym"
                },
                {
                    "name": "Endothelin receptor type A",
                    "type": "synonym"
                },
                {
                    "name": "endothelin A receptor",
                    "type": "synonym"
                },
                {
                    "name": "endothelin-1 receptor precursor",
                    "type": "synonym"
                },
                {
                    "name": "endothelin-1 receptor-like",
                    "type": "synonym"
                },
                {
                    "name": "endothelin-1 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ednra",
                    "type": "recommended"
                },
                {
                    "name": "ET-AR",
                    "type": "synonym"
                },
                {
                    "name": "ET-A",
                    "type": "synonym"
                },
                {
                    "name": "Ednra",
                    "type": "synonym"
                },
                {
                    "name": "Endor",
                    "type": "synonym"
                },
                {
                    "name": "Eta",
                    "type": "synonym"
                },
                {
                    "name": "RGD1559432",
                    "type": "synonym"
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                {
                    "id": "0060365",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060365"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70617-1",
            "uniprot_ac": "P70617",
            "uniprot_id": "NINJ1_RAT",
            "refseq_ac": "NP_036999",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ninjurin-1",
                    "type": "recommended"
                },
                {
                    "name": "Nerve injury-induced protein 1",
                    "type": "synonym"
                },
                {
                    "name": "nerve injury-induced protein 1",
                    "type": "synonym"
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                {
                    "name": "ninjurin-1",
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            ],
            "gene_names": [
                {
                    "name": "Ninj1",
                    "type": "recommended"
                },
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                    "name": "Ninj1",
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                }
            ],
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                    "id": "0060365",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060365"
                }
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        {
            "uniprot_canonical_ac": "P09668-1",
            "uniprot_ac": "P09668",
            "uniprot_id": "CATH_HUMAN",
            "refseq_ac": "NP_004381",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pro-cathepsin H",
                    "type": "recommended"
                },
                {
                    "name": "N-benzoylarginine-beta-naphthylamide hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "aleurain",
                    "type": "synonym"
                },
                {
                    "name": "cathepsin B3",
                    "type": "synonym"
                },
                {
                    "name": "cathepsin BA",
                    "type": "synonym"
                },
                {
                    "name": "pro-cathepsin H isoform a preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "pro-cathepsin H",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTSH",
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                    "name": "ACC-4",
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                },
                {
                    "name": "ACC-5",
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                    "name": "ACC4",
                    "type": "synonym"
                },
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                    "name": "ACC5",
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                },
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                    "name": "CPSB",
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                    "id": "0060365",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060365"
}