{
    "disease_id": "DOID:0110699",
    "recommended_name": {
        "id": "DOID:0110699",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110699",
        "name": "hypotrichosis 2",
        "description": "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the CDSN gene on chromosome 6p21.33."
    },
    "synonyms": [
        {
            "id": "DOID:0110699",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110699",
            "name": "Spanish type hypotrichosis",
            "description": ""
        },
        {
            "id": "DOID:0110699",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110699",
            "name": "hypotrichosis simplex of the scalp 1",
            "description": ""
        },
        {
            "id": "DOID:0110699",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110699",
            "name": "HTSS1",
            "description": ""
        },
        {
            "id": "DOID:0110699",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110699",
            "name": "HYPT2",
            "description": ""
        },
        {
            "id": "MONDO:0007805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007805",
            "name": "hypotrichosis 2",
            "description": "Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene."
        },
        {
            "id": "MONDO:0007805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007805",
            "name": "CDSN hypotrichosis",
            "description": ""
        },
        {
            "id": "MONDO:0007805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007805",
            "name": "HYPT2",
            "description": ""
        },
        {
            "id": "MONDO:0007805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007805",
            "name": "hypotrichosis 2",
            "description": ""
        },
        {
            "id": "MONDO:0007805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007805",
            "name": "hypotrichosis caused by mutation in CDSN",
            "description": ""
        },
        {
            "id": "MONDO:0007805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007805",
            "name": "hypotrichosis simplex of the scalp 1",
            "description": ""
        },
        {
            "id": "MONDO:0007805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007805",
            "name": "hypotrichosis type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007805",
            "name": "hypt2",
            "description": ""
        },
        {
            "id": "MIM:146520",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/146520",
            "name": "Hypotrichosis 2",
            "description": "Hypotrichosis 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110699"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110699",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110699",
            "categories": []
        },
        {
            "id": "MONDO:0007805",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007805",
            "categories": []
        },
        {
            "id": "MIM:146520",
            "database": "MIM",
            "url": "https://www.omim.org/entry/146520",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7TPC1-1",
            "uniprot_ac": "Q7TPC1",
            "uniprot_id": "CDSN_MOUSE",
            "refseq_ac": "NP_001008424",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Corneodesmosin",
                    "type": "recommended"
                },
                {
                    "name": "corneodesmosin isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdsn",
                    "type": "recommended"
                },
                {
                    "name": "Cdsn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TPC1-1",
            "evidence": [
                {
                    "id": "0110699",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110699"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15517-1",
            "uniprot_ac": "Q15517",
            "uniprot_id": "CDSN_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Corneodesmosin",
                    "type": "recommended"
                },
                {
                    "name": "S protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDSN",
                    "type": "recommended"
                }
            ],
            "record_id": "Q15517-1",
            "evidence": [
                {
                    "id": "146520",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/146520"
                },
                {
                    "id": "0110699",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110699"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZKH8-1",
            "uniprot_ac": "A0A8I5ZKH8",
            "uniprot_id": "A0A8I5ZKH8_RAT",
            "refseq_ac": "NP_001386440",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Corneodesmosin",
                    "type": "recommended"
                },
                {
                    "name": "corneodesmosin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AABR07044375.1",
                    "type": "recommended"
                },
                {
                    "name": "Cdsn",
                    "type": "recommended"
                },
                {
                    "name": "AABR07044375.1",
                    "type": "synonym"
                },
                {
                    "name": "Cdsn",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZKH8-1",
            "evidence": [
                {
                    "id": "0110699",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110699"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110699"
}