{
    "disease_id": "DOID:0111653",
    "recommended_name": {
        "id": "DOID:0111653",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111653",
        "name": "ectodermal dysplasia 11A",
        "description": "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDARADD gene on chromosome 1q42-q43."
    },
    "synonyms": [
        {
            "id": "DOID:0111653",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111653",
            "name": "ECTD11A",
            "description": ""
        },
        {
            "id": "DOID:0111653",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111653",
            "name": "ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013982",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013982",
            "name": "ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013982",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013982",
            "name": "ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013982",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013982",
            "name": "ECTD11A",
            "description": ""
        },
        {
            "id": "MIM:614940",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614940",
            "name": "Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant",
            "description": "Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111653"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111653",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111653",
            "categories": []
        },
        {
            "id": "MONDO:0013982",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013982",
            "categories": []
        },
        {
            "id": "MIM:614940",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614940",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AA70QGP6-1",
            "uniprot_ac": "A0AA70QGP6",
            "uniprot_id": "A0AA70QGP6_DANRE",
            "refseq_ac": "XP_695138",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ectodysplasin-A receptor-associated adapter protein",
                    "type": "recommended"
                },
                {
                    "name": "ectodysplasin-A receptor-associated adapter protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "edaradd",
                    "type": "recommended"
                },
                {
                    "name": "edaradd",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AA70QGP6-1",
            "evidence": [
                {
                    "id": "0111653",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111653"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VHX2-1",
            "uniprot_ac": "Q8VHX2",
            "uniprot_id": "EDAD_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ectodysplasin-A receptor-associated adapter protein",
                    "type": "recommended"
                },
                {
                    "name": "EDAR-associated death domain protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein crinkled",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Edaradd",
                    "type": "recommended"
                },
                {
                    "name": "Cr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VHX2-1",
            "evidence": [
                {
                    "id": "0111653",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111653"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WWZ3-1",
            "uniprot_ac": "Q8WWZ3",
            "uniprot_id": "EDAD_HUMAN",
            "refseq_ac": "NP_542776",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ectodysplasin-A receptor-associated adapter protein",
                    "type": "recommended"
                },
                {
                    "name": "EDAR associated death domain",
                    "type": "synonym"
                },
                {
                    "name": "EDAR-associated death domain protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein crinkled homolog",
                    "type": "synonym"
                },
                {
                    "name": "crinkled homolog",
                    "type": "synonym"
                },
                {
                    "name": "ectodysplasia A receptor associated death domain",
                    "type": "synonym"
                },
                {
                    "name": "ectodysplasin-A receptor-associated adapter protein isoform B",
                    "type": "synonym"
                },
                {
                    "name": "ectodysplasin-A receptor-associated adapter protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EDARADD",
                    "type": "recommended"
                },
                {
                    "name": "CR",
                    "type": "synonym"
                },
                {
                    "name": "ECTD11A",
                    "type": "synonym"
                },
                {
                    "name": "ECTD11B",
                    "type": "synonym"
                },
                {
                    "name": "ED3",
                    "type": "synonym"
                },
                {
                    "name": "EDA3",
                    "type": "synonym"
                },
                {
                    "name": "EDARADD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WWZ3-1",
            "evidence": [
                {
                    "id": "614940",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614940"
                },
                {
                    "id": "0111653",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111653"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LYE0-1",
            "uniprot_ac": "F1LYE0",
            "uniprot_id": "F1LYE0_RAT",
            "refseq_ac": "NP_001419240",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ectodysplasin-A receptor-associated adapter protein",
                    "type": "recommended"
                },
                {
                    "name": "EDAR (ectodysplasin-A receptor)-associated death domain",
                    "type": "synonym"
                },
                {
                    "name": "EDAR-associated death domain",
                    "type": "synonym"
                },
                {
                    "name": "ectodysplasin-A receptor-associated adapter protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Edaradd",
                    "type": "recommended"
                },
                {
                    "name": "Edaradd",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564010",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LYE0-1",
            "evidence": [
                {
                    "id": "0111653",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111653"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111653"
}