{
    "disease_id": "DOID:0111875",
    "recommended_name": {
        "id": "DOID:0111875",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111875",
        "name": "MLS syndrome",
        "description": "A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities."
    },
    "synonyms": [
        {
            "id": "DOID:0111875",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111875",
            "name": "linear skin defects with multiple congenital anomalies",
            "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": "DOID:0111808",
            "label": "linear skin defects with multiple congenital anomalies 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111876",
            "label": "linear skin defects with multiple congenital anomalies 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111877",
            "label": "linear skin defects with multiple congenital anomalies 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111876",
        "DOID:0111877",
        "DOID:0111808",
        "DOID:0111875"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111875",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111875",
            "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": "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"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111875"
}