{
    "disease_id": "DOID:0111665",
    "recommended_name": {
        "id": "DOID:0111665",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111665",
        "name": "ectodermal dysplasia 10B",
        "description": "A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDAR gene on chromosome 2q13."
    },
    "synonyms": [
        {
            "id": "DOID:0111665",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111665",
            "name": "ECTD10B",
            "description": ""
        },
        {
            "id": "DOID:0111665",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111665",
            "name": "ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009147",
            "name": "ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009147",
            "name": "ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009147",
            "name": "ECTD10B",
            "description": ""
        },
        {
            "id": "MIM:224900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/224900",
            "name": "Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive",
            "description": "Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111665"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111665",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111665",
            "categories": []
        },
        {
            "id": "MONDO:0009147",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009147",
            "categories": []
        },
        {
            "id": "MIM:224900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/224900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IGE7-1",
            "uniprot_ac": "A0A0R4IGE7",
            "uniprot_id": "A0A0R4IGE7_DANRE",
            "refseq_ac": "NP_001108536",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor necrosis factor receptor superfamily member EDAR precursor",
                    "type": "synonym"
                },
                {
                    "name": "ectodysplasin receptor",
                    "type": "synonym"
                },
                {
                    "name": "finless",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member EDAR precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "edar",
                    "type": "recommended"
                },
                {
                    "name": "edar",
                    "type": "synonym"
                },
                {
                    "name": "fls",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IGE7-1",
            "evidence": [
                {
                    "id": "0111665",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111665"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R187-1",
            "uniprot_ac": "Q9R187",
            "uniprot_id": "EDAR_MOUSE",
            "refseq_ac": "NP_034230",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor necrosis factor receptor superfamily member EDAR",
                    "type": "recommended"
                },
                {
                    "name": "Anhidrotic ectodysplasin receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "Downless",
                    "type": "synonym"
                },
                {
                    "name": "Ectodermal dysplasia receptor",
                    "type": "synonym"
                },
                {
                    "name": "Ectodysplasin-A receptor",
                    "type": "synonym"
                },
                {
                    "name": "anhidrotic ectodysplasin receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "downless",
                    "type": "synonym"
                },
                {
                    "name": "ectodermal dysplasia receptor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member EDAR isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member EDAR",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Edar",
                    "type": "recommended"
                },
                {
                    "name": "Dl",
                    "type": "synonym"
                },
                {
                    "name": "ED1R",
                    "type": "synonym"
                },
                {
                    "name": "ED3",
                    "type": "synonym"
                },
                {
                    "name": "ED5",
                    "type": "synonym"
                },
                {
                    "name": "EDA-A1R",
                    "type": "synonym"
                },
                {
                    "name": "EDA3",
                    "type": "synonym"
                },
                {
                    "name": "Edar",
                    "type": "synonym"
                },
                {
                    "name": "dl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R187-1",
            "evidence": [
                {
                    "id": "0111665",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111665"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UNE0-1",
            "uniprot_ac": "Q9UNE0",
            "uniprot_id": "EDAR_HUMAN",
            "refseq_ac": "NP_071731",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor necrosis factor receptor superfamily member EDAR",
                    "type": "recommended"
                },
                {
                    "name": "Anhidrotic ectodysplasin receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "Downless homolog",
                    "type": "synonym"
                },
                {
                    "name": "EDA-A1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Ectodermal dysplasia receptor",
                    "type": "synonym"
                },
                {
                    "name": "Ectodysplasin-A receptor",
                    "type": "synonym"
                },
                {
                    "name": "anhidrotic ectodysplasin receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "downless homolog",
                    "type": "synonym"
                },
                {
                    "name": "downless, mouse, homolog of",
                    "type": "synonym"
                },
                {
                    "name": "ectodermal dysplasia receptor",
                    "type": "synonym"
                },
                {
                    "name": "ectodysplasin 1, anhidrotic receptor",
                    "type": "synonym"
                },
                {
                    "name": "ectodysplasin A1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "hypohidrotic ectodermal dysplasia",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member EDAR precursor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member EDAR",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EDAR",
                    "type": "recommended"
                },
                {
                    "name": "DL",
                    "type": "synonym"
                },
                {
                    "name": "ECTD10A",
                    "type": "synonym"
                },
                {
                    "name": "ECTD10B",
                    "type": "synonym"
                },
                {
                    "name": "ED1R",
                    "type": "synonym"
                },
                {
                    "name": "ED3",
                    "type": "synonym"
                },
                {
                    "name": "ED5",
                    "type": "synonym"
                },
                {
                    "name": "EDA-A1R",
                    "type": "synonym"
                },
                {
                    "name": "EDA1R",
                    "type": "synonym"
                },
                {
                    "name": "EDA3",
                    "type": "synonym"
                },
                {
                    "name": "EDAR",
                    "type": "synonym"
                },
                {
                    "name": "HRM1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UNE0-1",
            "evidence": [
                {
                    "id": "224900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/224900"
                },
                {
                    "id": "0111665",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111665"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZGP2-1",
            "uniprot_ac": "D3ZGP2",
            "uniprot_id": "D3ZGP2_RAT",
            "refseq_ac": "XP_038954831",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor necrosis factor receptor superfamily member EDAR",
                    "type": "recommended"
                },
                {
                    "name": "Anhidrotic ectodysplasin receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "Ectodermal dysplasia receptor",
                    "type": "synonym"
                },
                {
                    "name": "Ectodysplasin-A receptor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member EDAR isoform X3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Edar",
                    "type": "recommended"
                },
                {
                    "name": "Edar",
                    "type": "synonym"
                },
                {
                    "name": "RGD1561714",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZGP2-1",
            "evidence": [
                {
                    "id": "0111665",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111665"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26897-1",
            "uniprot_ac": "P26897",
            "uniprot_id": "IL2RA_RAT",
            "refseq_ac": "NP_037295",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-2 receptor subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "IL-2 receptor alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "IL-2 receptor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL-2-RA",
                    "type": "synonym"
                },
                {
                    "name": "IL-2R subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL2-RA",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 2 receptor, alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-2 receptor subunit alpha precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il2ra",
                    "type": "recommended"
                },
                {
                    "name": "IL2RAC",
                    "type": "synonym"
                },
                {
                    "name": "Il2ra",
                    "type": "synonym"
                }
            ],
            "record_id": "P26897-1",
            "evidence": [
                {
                    "id": "0111665",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111665"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111665"
}