{
    "disease_id": "DOID:0111808",
    "recommended_name": {
        "id": "DOID:0111808",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111808",
        "name": "linear skin defects with multiple congenital anomalies 1",
        "description": "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the HCCS gene on chromosome Xp22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111808",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111808",
            "name": "microphthalmia-dermal aplasia-sclerocornea syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111808",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111808",
            "name": "MCOPS7",
            "description": ""
        },
        {
            "id": "DOID:0111808",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111808",
            "name": "MIDAS syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111808",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111808",
            "name": "Microphthalmia with linear skin defect syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111808",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111808",
            "name": "syndromic microphthalmia 7",
            "description": ""
        },
        {
            "id": "DOID:0111808",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111808",
            "name": "syndromic microphthalmia type 7",
            "description": ""
        },
        {
            "id": "MONDO:0024552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024552",
            "name": "linear skin defects with multiple congenital anomalies 1",
            "description": "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene."
        },
        {
            "id": "MONDO:0024552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024552",
            "name": "HCCS microphthalmia with linear skin defects syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0024552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024552",
            "name": "linear skin defects with multiple congenital anomalies 1",
            "description": ""
        },
        {
            "id": "MONDO:0024552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024552",
            "name": "linear skin defects with multiple congenital anomalies 1, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0024552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024552",
            "name": "microphthalmia with linear skin defects syndrome caused by mutation in HCCS",
            "description": ""
        },
        {
            "id": "MONDO:0024552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024552",
            "name": "LSDMCA1",
            "description": ""
        },
        {
            "id": "MIM:309801",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/309801",
            "name": "Linear skin defects with multiple congenital anomalies 1",
            "description": "Linear skin defects with multiple congenital anomalies 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111808"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111808",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111808",
            "categories": []
        },
        {
            "id": "MONDO:0024552",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024552",
            "categories": []
        },
        {
            "id": "MIM:309801",
            "database": "MIM",
            "url": "https://www.omim.org/entry/309801",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BAG4-1",
            "uniprot_ac": "A0A8M2BAG4",
            "uniprot_id": "A0A8M2BAG4_DANRE",
            "refseq_ac": "XP_005163376",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Holocytochrome c-type synthase",
                    "type": "recommended"
                },
                {
                    "name": "4.4.1.17",
                    "type": "synonym"
                },
                {
                    "name": "holocytochrome c synthase a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hccsa.1",
                    "type": "recommended"
                },
                {
                    "name": "hccsa.1",
                    "type": "synonym"
                },
                {
                    "name": "hccsa",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92841",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BAG4-1",
            "evidence": [
                {
                    "id": "0111808",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111808"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M6YUX6-1",
            "uniprot_ac": "A0A8M6YUX6",
            "uniprot_id": "A0A8M6YUX6_DANRE",
            "refseq_ac": "XP_017208122",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Holocytochrome c-type synthase",
                    "type": "recommended"
                },
                {
                    "name": "4.4.1.17",
                    "type": "synonym"
                },
                {
                    "name": "holocytochrome c-type synthase-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hccsa.2",
                    "type": "recommended"
                },
                {
                    "name": "hccsa.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6YUX6-1",
            "evidence": [
                {
                    "id": "0111808",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111808"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53702-1",
            "uniprot_ac": "P53702",
            "uniprot_id": "CCHL_MOUSE",
            "refseq_ac": "NP_001317978",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Holocytochrome c-type synthase",
                    "type": "recommended"
                },
                {
                    "name": "4.4.1.17",
                    "type": "synonym"
                },
                {
                    "name": "CCHL",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c-type heme lyase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c-type heme lyase",
                    "type": "synonym"
                },
                {
                    "name": "holocytochrome c-type synthase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "holocytochrome c-type synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hccs",
                    "type": "recommended"
                },
                {
                    "name": "CCHL",
                    "type": "synonym"
                },
                {
                    "name": "Cchl",
                    "type": "synonym"
                },
                {
                    "name": "Hccs",
                    "type": "synonym"
                }
            ],
            "record_id": "P53702-1",
            "evidence": [
                {
                    "id": "0111808",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111808"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53701-1",
            "uniprot_ac": "P53701",
            "uniprot_id": "CCHL_HUMAN",
            "refseq_ac": "NP_001116080",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Holocytochrome c-type synthase",
                    "type": "recommended"
                },
                {
                    "name": "4.4.1.17",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c-type heme lyase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c heme-lyase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c-type heme lyase",
                    "type": "synonym"
                },
                {
                    "name": "holocytochrome c-type synthase",
                    "type": "synonym"
                },
                {
                    "name": "holocytochrome-c synthetase",
                    "type": "synonym"
                },
                {
                    "name": "microphthalamia with linear skin defects",
                    "type": "synonym"
                },
                {
                    "name": "microphthalmia with linear skin defects",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HCCS",
                    "type": "recommended"
                },
                {
                    "name": "CCHL",
                    "type": "synonym"
                },
                {
                    "name": "HCCS",
                    "type": "synonym"
                },
                {
                    "name": "LSDMCA1",
                    "type": "synonym"
                },
                {
                    "name": "MCOPS7",
                    "type": "synonym"
                },
                {
                    "name": "MLS",
                    "type": "synonym"
                }
            ],
            "record_id": "P53701-1",
            "evidence": [
                {
                    "id": "309801",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/309801"
                },
                {
                    "id": "0111808",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111808"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06182-1",
            "uniprot_ac": "P06182",
            "uniprot_id": "CCHL_YEAST",
            "refseq_ac": "NP_009361",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Holocytochrome-c synthase",
                    "type": "recommended"
                },
                {
                    "name": "4.4.1.17",
                    "type": "synonym"
                },
                {
                    "name": "CCHL",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c heme lyase",
                    "type": "synonym"
                },
                {
                    "name": "holocytochrome c synthase CYC3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYC3",
                    "type": "recommended"
                },
                {
                    "name": "CYC3",
                    "type": "synonym"
                }
            ],
            "record_id": "P06182-1",
            "evidence": [
                {
                    "id": "0111808",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111808"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZL85-1",
            "uniprot_ac": "D3ZL85",
            "uniprot_id": "D3ZL85_RAT",
            "refseq_ac": "NP_001178661",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Holocytochrome c-type synthase",
                    "type": "recommended"
                },
                {
                    "name": "4.4.1.17",
                    "type": "synonym"
                },
                {
                    "name": "holocytochrome c synthetase",
                    "type": "synonym"
                },
                {
                    "name": "holocytochrome c-type synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hccs",
                    "type": "recommended"
                },
                {
                    "name": "Hccs",
                    "type": "synonym"
                },
                {
                    "name": "RGD1563855",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZL85-1",
            "evidence": [
                {
                    "id": "0111808",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111808"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VD55-1",
            "uniprot_ac": "Q9VD55",
            "uniprot_id": "Q9VD55_DROME",
            "refseq_ac": "NP_001262820",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Holocytochrome c-type synthase",
                    "type": "recommended"
                },
                {
                    "name": "4.4.1.17",
                    "type": "synonym"
                },
                {
                    "name": "CG6022-PB",
                    "type": "synonym"
                },
                {
                    "name": "Cchl-PB",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c haem lyase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c heme lyase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c heme lyase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cchl",
                    "type": "recommended"
                },
                {
                    "name": "CG6022",
                    "type": "synonym"
                },
                {
                    "name": "Cchl",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6022",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6022",
                    "type": "synonym"
                },
                {
                    "name": "cchL",
                    "type": "synonym"
                },
                {
                    "name": "cchl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VD55-1",
            "evidence": [
                {
                    "id": "0111808",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111808"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111808"
}