{
    "disease_id": "DOID:0110703",
    "recommended_name": {
        "id": "DOID:0110703",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110703",
        "name": "hypotrichosis 6",
        "description": "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1."
    },
    "synonyms": [
        {
            "id": "DOID:0110703",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110703",
            "name": "Hypotrichosis, Localized, Autosomal Recessive 1",
            "description": ""
        },
        {
            "id": "DOID:0110703",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110703",
            "name": "Monilethrix-like hypotrichosis",
            "description": ""
        },
        {
            "id": "DOID:0110703",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110703",
            "name": "autosomal recessive localized hypotrichosis",
            "description": ""
        },
        {
            "id": "DOID:0110703",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110703",
            "name": "HYPT6",
            "description": ""
        },
        {
            "id": "DOID:0110703",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110703",
            "name": "LAH1",
            "description": ""
        },
        {
            "id": "MONDO:0011932",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011932",
            "name": "hypotrichosis 6",
            "description": "Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene."
        },
        {
            "id": "MONDO:0011932",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011932",
            "name": "DSG4 hypotrichosis",
            "description": ""
        },
        {
            "id": "MONDO:0011932",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011932",
            "name": "HYPT6",
            "description": ""
        },
        {
            "id": "MONDO:0011932",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011932",
            "name": "LAH1",
            "description": ""
        },
        {
            "id": "MONDO:0011932",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011932",
            "name": "Lah1",
            "description": ""
        },
        {
            "id": "MONDO:0011932",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011932",
            "name": "autosomal recessive localised hypotrichosis",
            "description": ""
        },
        {
            "id": "MONDO:0011932",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011932",
            "name": "hypotrichosis 6",
            "description": ""
        },
        {
            "id": "MONDO:0011932",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011932",
            "name": "hypotrichosis caused by mutation in DSG4",
            "description": ""
        },
        {
            "id": "MONDO:0011932",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011932",
            "name": "hypotrichosis type 6",
            "description": ""
        },
        {
            "id": "MONDO:0011932",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011932",
            "name": "hypotrichosis, localized, autosomal recessive 1",
            "description": ""
        },
        {
            "id": "MONDO:0011932",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011932",
            "name": "monilethrix-like hypotrichosis",
            "description": ""
        },
        {
            "id": "MIM:607903",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607903",
            "name": "Hypotrichosis 6",
            "description": "Hypotrichosis 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110703"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110703",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110703",
            "categories": []
        },
        {
            "id": "MONDO:0011932",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011932",
            "categories": []
        },
        {
            "id": "MIM:607903",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607903",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "H2EQR6-1",
            "uniprot_ac": "H2EQR6",
            "uniprot_id": "DSG21_DANRE",
            "refseq_ac": "NP_001243566",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoglein-2.1",
                    "type": "recommended"
                },
                {
                    "name": "Dsg alpha",
                    "type": "synonym"
                },
                {
                    "name": "desmocollin a",
                    "type": "synonym"
                },
                {
                    "name": "desmoglein-2.1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "desmoglein-2.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dsg2.1",
                    "type": "recommended"
                },
                {
                    "name": "dsc",
                    "type": "synonym"
                },
                {
                    "name": "dsg2.1",
                    "type": "synonym"
                },
                {
                    "name": "dsg2",
                    "type": "synonym"
                },
                {
                    "name": "dsga",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-51f12.6",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj23f02",
                    "type": "synonym"
                }
            ],
            "record_id": "H2EQR6-1",
            "evidence": [
                {
                    "id": "0110703",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110703"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2BIB6-1",
            "uniprot_ac": "A0A8M2BIB6",
            "uniprot_id": "DSG2L_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoglein-2-like protein",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "dsg2l",
                    "type": "recommended"
                },
                {
                    "name": "dsgb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BIB6-1",
            "evidence": [
                {
                    "id": "0110703",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110703"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TMD7-1",
            "uniprot_ac": "Q7TMD7",
            "uniprot_id": "DSG4_MOUSE",
            "refseq_ac": "NP_853543",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoglein-4",
                    "type": "recommended"
                },
                {
                    "name": "desmoglein-4 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dsg4",
                    "type": "recommended"
                },
                {
                    "name": "CDHF13",
                    "type": "synonym"
                },
                {
                    "name": "Dsg4",
                    "type": "synonym"
                },
                {
                    "name": "lah",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TMD7-1",
            "evidence": [
                {
                    "id": "0110703",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110703"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86SJ6-1",
            "uniprot_ac": "Q86SJ6",
            "uniprot_id": "DSG4_HUMAN",
            "refseq_ac": "NP_001127925",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoglein-4",
                    "type": "recommended"
                },
                {
                    "name": "Cadherin family member 13",
                    "type": "synonym"
                },
                {
                    "name": "cadherin family member 13",
                    "type": "synonym"
                },
                {
                    "name": "desmoglein-4 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DSG4",
                    "type": "recommended"
                },
                {
                    "name": "CDGF13",
                    "type": "synonym"
                },
                {
                    "name": "CDHF13",
                    "type": "synonym"
                },
                {
                    "name": "DSG4",
                    "type": "synonym"
                },
                {
                    "name": "HYPT6",
                    "type": "synonym"
                },
                {
                    "name": "LAH",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86SJ6-1",
            "evidence": [
                {
                    "id": "607903",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607903"
                },
                {
                    "id": "0110703",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110703"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6W3B0-1",
            "uniprot_ac": "Q6W3B0",
            "uniprot_id": "DSG4_RAT",
            "refseq_ac": "NP_955784",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoglein-4",
                    "type": "recommended"
                },
                {
                    "name": "desmoglein-4 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dsg4",
                    "type": "recommended"
                },
                {
                    "name": "Dsg4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6W3B0-1",
            "evidence": [
                {
                    "id": "0110703",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110703"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110703"
}