{
    "disease_id": "DOID:0111877",
    "recommended_name": {
        "id": "DOID:0111877",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111877",
        "name": "linear skin defects with multiple congenital anomalies 2",
        "description": "A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in the COX7B gene on chromosome Xq21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111877",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111877",
            "name": "APLCC",
            "description": ""
        },
        {
            "id": "DOID:0111877",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111877",
            "name": "LSDMCA2",
            "description": ""
        },
        {
            "id": "DOID:0111877",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111877",
            "name": "aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0010474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010474",
            "name": "linear skin defects with multiple congenital anomalies 2",
            "description": "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene."
        },
        {
            "id": "MONDO:0010474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010474",
            "name": "COX7B microphthalmia with linear skin defects syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010474",
            "name": "linear skin defects with multiple congenital anomalies 2",
            "description": ""
        },
        {
            "id": "MONDO:0010474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010474",
            "name": "linear skin defects with multiple congenital anomalies 2, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010474",
            "name": "linear skin defects with multiple congenital anomalies type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010474",
            "name": "microphthalmia with linear skin defects syndrome caused by mutation in COX7B",
            "description": ""
        },
        {
            "id": "MONDO:0010474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010474",
            "name": "LSDMCA2",
            "description": ""
        },
        {
            "id": "MIM:300887",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300887",
            "name": "Linear skin defects with multiple congenital anomalies 2",
            "description": "Linear skin defects with multiple congenital anomalies 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111877"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111877",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111877",
            "categories": []
        },
        {
            "id": "MONDO:0010474",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010474",
            "categories": []
        },
        {
            "id": "MIM:300887",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300887",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P56393-1",
            "uniprot_ac": "P56393",
            "uniprot_id": "COX7B_MOUSE",
            "refseq_ac": "NP_079655",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase subunit 7B, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide VIIb",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase polypeptide VIIb",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 7B, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 7B, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit VIIb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox7b",
                    "type": "recommended"
                },
                {
                    "name": "1110004F07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cox7b",
                    "type": "synonym"
                }
            ],
            "record_id": "P56393-1",
            "evidence": [
                {
                    "id": "0111877",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111877"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24311-1",
            "uniprot_ac": "P24311",
            "uniprot_id": "COX7B_HUMAN",
            "refseq_ac": "NP_001857",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase subunit 7B, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide VIIb",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase polypeptide VIIb",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 7B, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 7B, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit VIIb",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome-c oxidase chain VIIb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX7B",
                    "type": "recommended"
                },
                {
                    "name": "APLCC",
                    "type": "synonym"
                },
                {
                    "name": "COX7B",
                    "type": "synonym"
                },
                {
                    "name": "LSDMCA2",
                    "type": "synonym"
                }
            ],
            "record_id": "P24311-1",
            "evidence": [
                {
                    "id": "300887",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300887"
                },
                {
                    "id": "0111877",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111877"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P80431-1",
            "uniprot_ac": "P80431",
            "uniprot_id": "COX7B_RAT",
            "refseq_ac": "NP_877971",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase subunit 7B, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide VIIb",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase polypeptide VIIb",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 7B, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 7B, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit VIIb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox7b",
                    "type": "recommended"
                },
                {
                    "name": "Cox7b",
                    "type": "synonym"
                }
            ],
            "record_id": "P80431-1",
            "evidence": [
                {
                    "id": "0111877",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111877"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30277-1",
            "uniprot_ac": "P30277",
            "uniprot_id": "CCNB1_RAT",
            "refseq_ac": "NP_741988",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "G2/mitotic-specific cyclin-B1",
                    "type": "recommended"
                },
                {
                    "name": "G2/mitotic-specific cyclin-B1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccnb1",
                    "type": "recommended"
                },
                {
                    "name": "Ccnb1",
                    "type": "synonym"
                }
            ],
            "record_id": "P30277-1",
            "evidence": [
                {
                    "id": "0111877",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111877"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111877"
}