{
    "disease_id": "DOID:0111650",
    "recommended_name": {
        "id": "DOID:0111650",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111650",
        "name": "ectodermal dysplasia 13",
        "description": "An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in the KREMEN1 gene on chromosome 22q12.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111650",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111650",
            "name": "ECTD13",
            "description": ""
        },
        {
            "id": "DOID:0111650",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111650",
            "name": "ectodermal dysplasia 13, hair/tooth type",
            "description": ""
        },
        {
            "id": "MONDO:0044305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044305",
            "name": "ectodermal dysplasia 13, hair/tooth type",
            "description": ""
        },
        {
            "id": "MONDO:0044305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044305",
            "name": "ectodermal dysplasia 13, hair/tooth type",
            "description": ""
        },
        {
            "id": "MONDO:0044305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044305",
            "name": "ECTD13",
            "description": ""
        },
        {
            "id": "MIM:617392",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617392",
            "name": "Ectodermal dysplasia 13, hair/tooth type",
            "description": "Ectodermal dysplasia 13, hair/tooth type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111650"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111650",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111650",
            "categories": []
        },
        {
            "id": "MONDO:0044305",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044305",
            "categories": []
        },
        {
            "id": "MIM:617392",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617392",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99N43-1",
            "uniprot_ac": "Q99N43",
            "uniprot_id": "KREM1_MOUSE",
            "refseq_ac": "NP_115772",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kremen protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Dickkopf receptor",
                    "type": "synonym"
                },
                {
                    "name": "Kringle domain-containing transmembrane protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Kringle-containing protein marking the eye and the nose",
                    "type": "synonym"
                },
                {
                    "name": "dickkopf receptor",
                    "type": "synonym"
                },
                {
                    "name": "kremen protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "kremen protein 1",
                    "type": "synonym"
                },
                {
                    "name": "kringle domain-containing transmembrane protein 1",
                    "type": "synonym"
                },
                {
                    "name": "kringle-coding gene marking the eye and the nose",
                    "type": "synonym"
                },
                {
                    "name": "kringle-containing protein marking the eye and the nose",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kremen1",
                    "type": "recommended"
                },
                {
                    "name": "Kremen1",
                    "type": "synonym"
                },
                {
                    "name": "Kremen",
                    "type": "synonym"
                },
                {
                    "name": "Krm1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99N43-1",
            "evidence": [
                {
                    "id": "0111650",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111650"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96MU8-1",
            "uniprot_ac": "Q96MU8",
            "uniprot_id": "KREM1_HUMAN",
            "refseq_ac": "NP_001034659",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kremen protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Dickkopf receptor",
                    "type": "synonym"
                },
                {
                    "name": "Kringle domain-containing transmembrane protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Kringle-containing protein marking the eye and the nose",
                    "type": "synonym"
                },
                {
                    "name": "dickkopf receptor",
                    "type": "synonym"
                },
                {
                    "name": "kremen protein 1 isoform 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "kremen protein 1",
                    "type": "synonym"
                },
                {
                    "name": "kringle domain-containing transmembrane protein 1",
                    "type": "synonym"
                },
                {
                    "name": "kringle-coding gene marking the eye and the nose",
                    "type": "synonym"
                },
                {
                    "name": "kringle-containing protein marking the eye and the nose",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KREMEN1",
                    "type": "recommended"
                },
                {
                    "name": "ECTD13",
                    "type": "synonym"
                },
                {
                    "name": "KREMEN1",
                    "type": "synonym"
                },
                {
                    "name": "KREMEN",
                    "type": "synonym"
                },
                {
                    "name": "KRM1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96MU8-1",
            "evidence": [
                {
                    "id": "617392",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617392"
                },
                {
                    "id": "0111650",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111650"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q924S4-1",
            "uniprot_ac": "Q924S4",
            "uniprot_id": "KREM1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kremen protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Dickkopf receptor",
                    "type": "synonym"
                },
                {
                    "name": "Kringle domain-containing transmembrane protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Kringle-containing protein marking the eye and the nose",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kremen1",
                    "type": "recommended"
                },
                {
                    "name": "Kremen",
                    "type": "synonym"
                }
            ],
            "record_id": "Q924S4-1",
            "evidence": [
                {
                    "id": "0111650",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111650"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111650"
}