{
    "disease_id": "DOID:0111807",
    "recommended_name": {
        "id": "DOID:0111807",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111807",
        "name": "syndromic microphthalmia 9",
        "description": "A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111807",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111807",
            "name": "pulmonary agenesis microphthalmi and diaphragmatic defect",
            "description": ""
        },
        {
            "id": "DOID:0111807",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111807",
            "name": "Matthew-Wood syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111807",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111807",
            "name": "anophthalmia-pulmonary hypoplasia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111807",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111807",
            "name": "spear syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111807",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111807",
            "name": "anophthalmia/microphthalmia and pulmonary hypoplasia",
            "description": ""
        },
        {
            "id": "DOID:0111807",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111807",
            "name": "clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations",
            "description": ""
        },
        {
            "id": "MONDO:0011010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011010",
            "name": "Matthew-Wood syndrome",
            "description": "Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia."
        },
        {
            "id": "MONDO:0011010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011010",
            "name": "MCOPS9",
            "description": ""
        },
        {
            "id": "MONDO:0011010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011010",
            "name": "Matthew-Wood syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011010",
            "name": "anophthalmia-pulmonary hypoplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011010",
            "name": "microphthalmia syndromic type 9",
            "description": ""
        },
        {
            "id": "MONDO:0011010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011010",
            "name": "microphthalmia, syndromic type 9",
            "description": ""
        },
        {
            "id": "MONDO:0011010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011010",
            "name": "syndromic microphthalmia type 9",
            "description": ""
        },
        {
            "id": "MONDO:0011010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011010",
            "name": "Matthew Wood syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011010",
            "name": "clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations",
            "description": ""
        },
        {
            "id": "MONDO:0011010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011010",
            "name": "microphthalmia syndromic 9",
            "description": ""
        },
        {
            "id": "MONDO:0011010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011010",
            "name": "microphthalmia, syndromic 9",
            "description": ""
        },
        {
            "id": "MONDO:0011010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011010",
            "name": "pulmonary agenesis microphthalmi and diaphragmatic defect",
            "description": ""
        },
        {
            "id": "MIM:601186",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601186",
            "name": "Microphthalmia, syndromic, 9",
            "description": "Microphthalmia, syndromic, 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111807"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111807",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111807",
            "categories": []
        },
        {
            "id": "MONDO:0011010",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011010",
            "categories": []
        },
        {
            "id": "MIM:601186",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601186",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1RAX4-1",
            "uniprot_ac": "F1RAX4",
            "uniprot_id": "STRA6_DANRE",
            "refseq_ac": "NP_001038777",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor for retinol uptake stra6",
                    "type": "recommended"
                },
                {
                    "name": "Stimulated by retinoic acid gene 6 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "receptor for retinol uptake stra6",
                    "type": "synonym"
                },
                {
                    "name": "stimulated by retinoic acid 6",
                    "type": "synonym"
                },
                {
                    "name": "stimulated by retinoic acid gene 6 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "stra6",
                    "type": "recommended"
                },
                {
                    "name": "im:7151282",
                    "type": "synonym"
                },
                {
                    "name": "stra6",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc51h06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136689",
                    "type": "synonym"
                }
            ],
            "record_id": "F1RAX4-1",
            "evidence": [
                {
                    "id": "0111807",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111807"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70491-1",
            "uniprot_ac": "O70491",
            "uniprot_id": "STRA6_MOUSE",
            "refseq_ac": "NP_001155947",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor for retinol uptake STRA6",
                    "type": "recommended"
                },
                {
                    "name": "Retinoic acid-responsive protein",
                    "type": "synonym"
                },
                {
                    "name": "Retinol-binding protein receptor STRA6",
                    "type": "synonym"
                },
                {
                    "name": "Stimulated by retinoic acid gene 6 protein",
                    "type": "synonym"
                },
                {
                    "name": "receptor for retinol uptake STRA6",
                    "type": "synonym"
                },
                {
                    "name": "retinoic acid-responsive protein",
                    "type": "synonym"
                },
                {
                    "name": "retinol-binding protein receptor STRA6",
                    "type": "synonym"
                },
                {
                    "name": "stimulated by retinoic acid gene 6 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stra6",
                    "type": "recommended"
                },
                {
                    "name": "Stra6",
                    "type": "synonym"
                }
            ],
            "record_id": "O70491-1",
            "evidence": [
                {
                    "id": "0111807",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111807"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BX79-1",
            "uniprot_ac": "Q9BX79",
            "uniprot_id": "STRA6_HUMAN",
            "refseq_ac": "NP_001136089",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor for retinol uptake STRA6",
                    "type": "recommended"
                },
                {
                    "name": "RBP receptor",
                    "type": "synonym"
                },
                {
                    "name": "Retinol-binding protein receptor STRA6",
                    "type": "synonym"
                },
                {
                    "name": "Stimulated by retinoic acid gene 6 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "receptor for retinol uptake STRA6 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "receptor for retinol uptake STRA6",
                    "type": "synonym"
                },
                {
                    "name": "retinol binding protein 4 receptor",
                    "type": "synonym"
                },
                {
                    "name": "retinol-binding protein receptor STRA6",
                    "type": "synonym"
                },
                {
                    "name": "stimulated by retinoic acid 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "stimulated by retinoic acid gene 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "stimulated by retinoic acid gene 6 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STRA6",
                    "type": "recommended"
                },
                {
                    "name": "MCOPCB8",
                    "type": "synonym"
                },
                {
                    "name": "MCOPS9",
                    "type": "synonym"
                },
                {
                    "name": "PP14296",
                    "type": "synonym"
                },
                {
                    "name": "PRO19578",
                    "type": "synonym"
                },
                {
                    "name": "SLC69A1",
                    "type": "synonym"
                },
                {
                    "name": "STRA6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BX79-1",
            "evidence": [
                {
                    "id": "601186",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601186"
                },
                {
                    "id": "0111807",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111807"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4QR83-1",
            "uniprot_ac": "Q4QR83",
            "uniprot_id": "STRA6_RAT",
            "refseq_ac": "NP_001025095",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor for retinol uptake STRA6",
                    "type": "recommended"
                },
                {
                    "name": "Retinol-binding protein receptor STRA6",
                    "type": "synonym"
                },
                {
                    "name": "Stimulated by retinoic acid gene 6 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "receptor for retinol uptake STRA6",
                    "type": "synonym"
                },
                {
                    "name": "retinol-binding protein receptor STRA6",
                    "type": "synonym"
                },
                {
                    "name": "stimulated by retinoic acid 6",
                    "type": "synonym"
                },
                {
                    "name": "stimulated by retinoic acid gene 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "stimulated by retinoic acid gene 6 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stra6",
                    "type": "recommended"
                },
                {
                    "name": "RGD1307551",
                    "type": "synonym"
                },
                {
                    "name": "Stra6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4QR83-1",
            "evidence": [
                {
                    "id": "0111807",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111807"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111807"
}