{
    "disease_id": "DOID:0111800",
    "recommended_name": {
        "id": "DOID:0111800",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111800",
        "name": "syndromic microphthalmia 12",
        "description": "A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111800",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111800",
            "name": "MCOPS12",
            "description": ""
        },
        {
            "id": "DOID:0111800",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111800",
            "name": "microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects",
            "description": ""
        },
        {
            "id": "MONDO:0014229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014229",
            "name": "microphthalmia, syndromic 12",
            "description": "Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome."
        },
        {
            "id": "MONDO:0014229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014229",
            "name": "RARB syndromic microphthalmia",
            "description": ""
        },
        {
            "id": "MONDO:0014229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014229",
            "name": "microphthalmia, syndromic 12",
            "description": ""
        },
        {
            "id": "MONDO:0014229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014229",
            "name": "microphthalmia, syndromic type 12",
            "description": ""
        },
        {
            "id": "MONDO:0014229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014229",
            "name": "syndromic microphthalmia caused by mutation in RARB",
            "description": ""
        },
        {
            "id": "MONDO:0014229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014229",
            "name": "MCOPS12",
            "description": ""
        },
        {
            "id": "MONDO:0014229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014229",
            "name": "syndromic microphthalmia-12",
            "description": ""
        },
        {
            "id": "MIM:615524",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615524",
            "name": "Microphthalmia, syndromic, 12",
            "description": "Microphthalmia, syndromic, 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111800"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111800",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111800",
            "categories": []
        },
        {
            "id": "MONDO:0014229",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014229",
            "categories": []
        },
        {
            "id": "MIM:615524",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615524",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q90271-1",
            "uniprot_ac": "Q90271",
            "uniprot_id": "RARAA_DANRE",
            "refseq_ac": "NP_571481",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinoic acid receptor alpha-A",
                    "type": "recommended"
                },
                {
                    "name": "NR1B1-A",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group B member 1-A",
                    "type": "synonym"
                },
                {
                    "name": "RAR-alpha-2.A",
                    "type": "synonym"
                },
                {
                    "name": "RAR-alpha-A",
                    "type": "synonym"
                },
                {
                    "name": "RARalpha-A",
                    "type": "synonym"
                },
                {
                    "name": "Retinoic acid receptor alpha-2.A",
                    "type": "synonym"
                },
                {
                    "name": "Retinoic acid receptor alpha",
                    "type": "synonym"
                },
                {
                    "name": "nr1b1a",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group B member 1-A",
                    "type": "synonym"
                },
                {
                    "name": "retinoic acid receptor alpha a 201",
                    "type": "synonym"
                },
                {
                    "name": "retinoic acid receptor alpha-2.A",
                    "type": "synonym"
                },
                {
                    "name": "retinoic acid receptor alpha-A",
                    "type": "synonym"
                },
                {
                    "name": "retinoic acid receptor, alpha 2a",
                    "type": "synonym"
                },
                {
                    "name": "zRAR alpha",
                    "type": "synonym"
                },
                {
                    "name": "zRAR-alpha-2.A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "raraa",
                    "type": "recommended"
                },
                {
                    "name": "etID309833.12",
                    "type": "synonym"
                },
                {
                    "name": "nr1b1a",
                    "type": "synonym"
                },
                {
                    "name": "rara2a",
                    "type": "synonym"
                },
                {
                    "name": "raraa",
                    "type": "synonym"
                },
                {
                    "name": "rara",
                    "type": "synonym"
                },
                {
                    "name": "zRAR-alpha",
                    "type": "synonym"
                },
                {
                    "name": "zRAR",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109797",
                    "type": "synonym"
                }
            ],
            "record_id": "Q90271-1",
            "evidence": [
                {
                    "id": "0111800",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111800"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7ZTI3-1",
            "uniprot_ac": "Q7ZTI3",
            "uniprot_id": "RARAB_DANRE",
            "refseq_ac": "NP_571474",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinoic acid receptor alpha-B",
                    "type": "recommended"
                },
                {
                    "name": "NR1B1-B",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group B member 1-B",
                    "type": "synonym"
                },
                {
                    "name": "RAR-alpha-2.B",
                    "type": "synonym"
                },
                {
                    "name": "RAR-alpha-B",
                    "type": "synonym"
                },
                {
                    "name": "RARalpha-B",
                    "type": "synonym"
                },
                {
                    "name": "Retinoic acid receptor alpha-2.B",
                    "type": "synonym"
                },
                {
                    "name": "nr1b1b",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group B member 1-B",
                    "type": "synonym"
                },
                {
                    "name": "retinoic acid receptor alpha b1",
                    "type": "synonym"
                },
                {
                    "name": "retinoic acid receptor alpha-2.B",
                    "type": "synonym"
                },
                {
                    "name": "retinoic acid receptor alpha-B",
                    "type": "synonym"
                },
                {
                    "name": "retinoic acid receptor, alpha 2b",
                    "type": "synonym"
                },
                {
                    "name": "zRAR-alpha-2.B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rarab",
                    "type": "recommended"
                },
                {
                    "name": "fj66e06",
                    "type": "synonym"
                },
                {
                    "name": "nr1b1b",
                    "type": "synonym"
                },
                {
                    "name": "rara2b",
                    "type": "synonym"
                },
                {
                    "name": "rarab",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj66e06",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZTI3-1",
            "evidence": [
                {
                    "id": "0111800",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111800"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22605-1",
            "uniprot_ac": "P22605",
            "uniprot_id": "RARB_MOUSE",
            "refseq_ac": "NP_001276689",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinoic acid receptor beta",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group B member 2",
                    "type": "synonym"
                },
                {
                    "name": "RAR-beta",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group B member 2",
                    "type": "synonym"
                },
                {
                    "name": "retinoic acid receptor beta isoform beta3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rarb",
                    "type": "recommended"
                },
                {
                    "name": "A830025K23",
                    "type": "synonym"
                },
                {
                    "name": "Hap",
                    "type": "synonym"
                },
                {
                    "name": "Nr1b2",
                    "type": "synonym"
                },
                {
                    "name": "Rarb",
                    "type": "synonym"
                }
            ],
            "record_id": "P22605-1",
            "evidence": [
                {
                    "id": "0111800",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111800"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10826-1",
            "uniprot_ac": "P10826",
            "uniprot_id": "RARB_HUMAN",
            "refseq_ac": "NP_000956",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinoic acid receptor beta",
                    "type": "recommended"
                },
                {
                    "name": "HBV-activated protein",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group B member 2",
                    "type": "synonym"
                },
                {
                    "name": "RAR-beta",
                    "type": "synonym"
                },
                {
                    "name": "RAR-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "hepatitis B virus activated protein",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group B member 2",
                    "type": "synonym"
                },
                {
                    "name": "retinoic acid receptor beta isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "retinoic acid receptor, beta polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RARB",
                    "type": "recommended"
                },
                {
                    "name": "HAP",
                    "type": "synonym"
                },
                {
                    "name": "MCOPS12",
                    "type": "synonym"
                },
                {
                    "name": "NR1B2",
                    "type": "synonym"
                },
                {
                    "name": "RARB",
                    "type": "synonym"
                },
                {
                    "name": "RARbeta1",
                    "type": "synonym"
                },
                {
                    "name": "RARbeta",
                    "type": "synonym"
                },
                {
                    "name": "RRB2",
                    "type": "synonym"
                }
            ],
            "record_id": "P10826-1",
            "evidence": [
                {
                    "id": "615524",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615524"
                },
                {
                    "id": "0111800",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111800"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZFD9-1",
            "uniprot_ac": "D3ZFD9",
            "uniprot_id": "D3ZFD9_RAT",
            "refseq_ac": "NP_113717",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinoic acid receptor beta",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group B member 2",
                    "type": "synonym"
                },
                {
                    "name": "retinoic acid receptor beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rarb",
                    "type": "recommended"
                },
                {
                    "name": "LOC684994",
                    "type": "synonym"
                },
                {
                    "name": "Rarb",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZFD9-1",
            "evidence": [
                {
                    "id": "0111800",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111800"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00734-1",
            "uniprot_ac": "P00734",
            "uniprot_id": "THRB_HUMAN",
            "refseq_ac": "NP_000497",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prothrombin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.5",
                    "type": "synonym"
                },
                {
                    "name": "Coagulation factor II",
                    "type": "synonym"
                },
                {
                    "name": "prepro-coagulation factor II",
                    "type": "synonym"
                },
                {
                    "name": "prothrombin B-chain",
                    "type": "synonym"
                },
                {
                    "name": "prothrombin preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "thrombin factor II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "F2",
                    "type": "recommended"
                },
                {
                    "name": "F2",
                    "type": "synonym"
                },
                {
                    "name": "PT",
                    "type": "synonym"
                },
                {
                    "name": "RPRGL2",
                    "type": "synonym"
                },
                {
                    "name": "THPH1",
                    "type": "synonym"
                }
            ],
            "record_id": "P00734-1",
            "evidence": [
                {
                    "id": "0111800",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111800"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111800"
}