{
    "disease_id": "DOID:0110711",
    "recommended_name": {
        "id": "DOID:0110711",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110711",
        "name": "congenital hypotrichosis with juvenile macular dystrophy",
        "description": "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0110711",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110711",
            "name": "hypotrichosis with cone-rod dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0110711",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110711",
            "name": "HJMD",
            "description": ""
        },
        {
            "id": "MONDO:0011107",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011107",
            "name": "congenital hypotrichosis with juvenile macular dystrophy",
            "description": "A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness."
        },
        {
            "id": "MONDO:0011107",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011107",
            "name": "HJMD",
            "description": ""
        },
        {
            "id": "MONDO:0011107",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011107",
            "name": "Hjmd",
            "description": ""
        },
        {
            "id": "MONDO:0011107",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011107",
            "name": "hypotrichosis with cone-rod dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011107",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011107",
            "name": "hypotrichosis with juvenile macular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011107",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011107",
            "name": "hypotrichosis, congenital, with juvenile macular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011107",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011107",
            "name": "juvenile macular degeneration and hypotrichosis",
            "description": ""
        },
        {
            "id": "MONDO:0011107",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011107",
            "name": "juvenile macular dystrophy and congenital hypotrichosis",
            "description": ""
        },
        {
            "id": "MIM:601553",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601553",
            "name": "Hypotrichosis congenital with juvenile macular dystrophy",
            "description": "Hypotrichosis congenital with juvenile macular dystrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110711"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110711",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110711",
            "categories": []
        },
        {
            "id": "MONDO:0011107",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011107",
            "categories": []
        },
        {
            "id": "MIM:601553",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601553",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q90Z37-1",
            "uniprot_ac": "Q90Z37",
            "uniprot_id": "CADH1_DANRE",
            "refseq_ac": "NP_571895",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-1",
                    "type": "recommended"
                },
                {
                    "name": "E-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "cadherin 1, epithelial",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-1",
                    "type": "synonym"
                },
                {
                    "name": "hab",
                    "type": "synonym"
                },
                {
                    "name": "half baked",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cdh1",
                    "type": "recommended"
                },
                {
                    "name": "E-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "E-cad",
                    "type": "synonym"
                },
                {
                    "name": "cdh1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q90Z37-1",
            "evidence": [
                {
                    "id": "0110711",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110711"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58G176-1",
            "uniprot_ac": "A0AC58G176",
            "uniprot_id": "A0AC58G176_DANRE",
            "refseq_ac": "XP_073763443",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-1",
                    "type": "recommended"
                },
                {
                    "name": "B-cadherin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cdh31",
                    "type": "recommended"
                },
                {
                    "name": "cdh31",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58G176-1",
            "evidence": [
                {
                    "id": "0110711",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110711"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M6YZI6-1",
            "uniprot_ac": "A0A8M6YZI6",
            "uniprot_id": "A0A8M6YZI6_DANRE",
            "refseq_ac": "XP_017212586",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-1",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cdh28",
                    "type": "recommended"
                },
                {
                    "name": "cdh28",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6YZI6-1",
            "evidence": [
                {
                    "id": "0110711",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110711"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10287-1",
            "uniprot_ac": "P10287",
            "uniprot_id": "CADH3_MOUSE",
            "refseq_ac": "NP_001032898",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-3",
                    "type": "recommended"
                },
                {
                    "name": "P-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "Placental cadherin",
                    "type": "synonym"
                },
                {
                    "name": "RPE-specific cadherin",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-3 isoform a preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "placental cadherin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdh3",
                    "type": "recommended"
                },
                {
                    "name": "Cadp",
                    "type": "synonym"
                },
                {
                    "name": "Cdh3",
                    "type": "synonym"
                },
                {
                    "name": "Cdhp",
                    "type": "synonym"
                },
                {
                    "name": "P-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "Pcad",
                    "type": "synonym"
                }
            ],
            "record_id": "P10287-1",
            "evidence": [
                {
                    "id": "0110711",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110711"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22223-1",
            "uniprot_ac": "P22223",
            "uniprot_id": "CADH3_HUMAN",
            "refseq_ac": "NP_001304124",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-3",
                    "type": "recommended"
                },
                {
                    "name": "P-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "Placental cadherin",
                    "type": "synonym"
                },
                {
                    "name": "cadherin 3, type 1, P-cadherin (placental)",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-3 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "calcium-dependent adhesion protein, placental",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDH3",
                    "type": "recommended"
                },
                {
                    "name": "CDH3",
                    "type": "synonym"
                },
                {
                    "name": "CDHP",
                    "type": "synonym"
                },
                {
                    "name": "HJMD",
                    "type": "synonym"
                },
                {
                    "name": "PCAD",
                    "type": "synonym"
                }
            ],
            "record_id": "P22223-1",
            "evidence": [
                {
                    "id": "601553",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601553"
                },
                {
                    "id": "0110711",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110711"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LL01-1",
            "uniprot_ac": "A0ABK0LL01",
            "uniprot_id": "A0ABK0LL01_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdh3",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LL01-1",
            "evidence": [
                {
                    "id": "0110711",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110711"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110711"
}