{
    "disease_id": "DOID:0111664",
    "recommended_name": {
        "id": "DOID:0111664",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111664",
        "name": "ectodermal dysplasia 1",
        "description": "A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111664",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111664",
            "name": "CST syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111664",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111664",
            "name": "Christ-Siemens-Touraine syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111664",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111664",
            "name": "ED1",
            "description": ""
        },
        {
            "id": "DOID:0111664",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111664",
            "name": "HED1",
            "description": ""
        },
        {
            "id": "DOID:0111664",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111664",
            "name": "X-linked anhidrotic ectodermal dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0111664",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111664",
            "name": "XHED",
            "description": ""
        },
        {
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            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111664",
            "name": "XLHED",
            "description": ""
        },
        {
            "id": "DOID:0111664",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111664",
            "name": "ectodermal dysplasia 1, anhidrotic",
            "description": ""
        },
        {
            "id": "DOID:0111664",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111664",
            "name": "ectodermal dysplasia 1, hypohidrotic, X-linked",
            "description": ""
        },
        {
            "id": "DOID:0111664",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111664",
            "name": "hypohidrotic ectodermal dysplasia, X-Linked",
            "description": ""
        },
        {
            "id": "DOID:0111664",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111664",
            "name": "ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010585",
            "name": "X-linked hypohidrotic ectodermal dysplasia",
            "description": "An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin."
        },
        {
            "id": "MONDO:0010585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010585",
            "name": "Christ-Siemens-Touraine syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010585",
            "name": "X-linked hypohidrotic ectodermal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010585",
            "name": "XHED",
            "description": ""
        },
        {
            "id": "MONDO:0010585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010585",
            "name": "ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010585",
            "name": "hypohidrotic ectodermal dysplasia, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010585",
            "name": "anhidrotic ectodermal dysplasia X-linked",
            "description": ""
        },
        {
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            "resource": "MONDO",
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            "name": "ectodermal dysplasia 1, hypohidrotic, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010585",
            "name": "hypohidrotic ectodermal dysplasia X-linked",
            "description": ""
        },
        {
            "id": "MIM:305100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/305100",
            "name": "Ectodermal dysplasia 1, hypohidrotic, X-linked",
            "description": "Ectodermal dysplasia 1, hypohidrotic, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111664"
    ],
    "unlinked_id_list": [],
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        {
            "id": "DOID:0111664",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111664",
            "categories": []
        },
        {
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            "url": "https://monarchinitiative.org/disease/MONDO:0010585",
            "categories": []
        },
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            "id": "MIM:305100",
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            "categories": []
        }
    ],
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            "uniprot_ac": "O54693",
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                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "type": "recommended"
                },
                {
                    "name": "EDA protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Tabby protein",
                    "type": "synonym"
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                {
                    "name": "ectodysplasin-A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor ligand 7c",
                    "type": "synonym"
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                    "name": "Eda",
                    "type": "recommended"
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                {
                    "name": "EDA1",
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                },
                {
                    "name": "Ed1",
                    "type": "synonym"
                },
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                {
                    "name": "Eda-A2",
                    "type": "synonym"
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                {
                    "name": "Eda",
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                {
                    "name": "HED",
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                {
                    "name": "Ta",
                    "type": "synonym"
                },
                {
                    "name": "Tnlg7c",
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                    "name": "XLHED",
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                {
                    "name": "tabby",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111664",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111664"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92838-1",
            "uniprot_ac": "Q92838",
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            "refseq_ac": "NP_001005609",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "ED1-A1",
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                    "name": "ED1-A2",
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                {
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                {
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                    "name": "EDA",
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                    "name": "HED1",
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                {
                    "name": "HED",
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                {
                    "name": "ODT1",
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                {
                    "name": "STHAGX1",
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                {
                    "name": "TNLG7C",
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                    "id": "0111664",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111664"
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            ]
        },
        {
            "uniprot_canonical_ac": "A0A096MIW0-1",
            "uniprot_ac": "A0A096MIW0",
            "uniprot_id": "A0A096MIW0_RAT",
            "refseq_ac": "NP_001292172",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Ectodysplasin-A",
                    "type": "recommended"
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                    "name": "ectodysplasin-A isoform 1",
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                {
                    "name": "tumor necrosis factor ligand 7c",
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                {
                    "name": "RGD1563178",
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                {
                    "name": "2.3.2.26",
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                {
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                {
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "TNF-alpha",
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                {
                    "name": "drosophila aspartate rich TNF homolog",
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                    "name": "EGR",
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                    "id": "0111664",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111664"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111664"
}