{
    "disease_id": "DOID:0060861",
    "recommended_name": {
        "id": "DOID:0060861",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060861",
        "name": "microphthalmia with limb anomalies",
        "description": "A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24."
    },
    "synonyms": [
        {
            "id": "DOID:0060861",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060861",
            "name": "MLA",
            "description": ""
        },
        {
            "id": "DOID:0060861",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060861",
            "name": "OAS",
            "description": ""
        },
        {
            "id": "DOID:0060861",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060861",
            "name": "Waardenburg anophthalmia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060861",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060861",
            "name": "anophthalmia-syndactyly syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060861",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060861",
            "name": "ophthalmoacromelic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008800",
            "name": "microphthalmia with limb anomalies",
            "description": "Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly."
        },
        {
            "id": "MONDO:0008800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008800",
            "name": "MLA",
            "description": ""
        },
        {
            "id": "MONDO:0008800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008800",
            "name": "OAS",
            "description": ""
        },
        {
            "id": "MONDO:0008800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008800",
            "name": "Ophthalmoacromelic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008800",
            "name": "Waardenburg anophthalmia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008800",
            "name": "anophthalmia-syndactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008800",
            "name": "microphthalmia with limb anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0008800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008800",
            "name": "ophthalmoacromelic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008800",
            "name": "anophthalmia Waardenburg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008800",
            "name": "anophthalmos with limb anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0008800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008800",
            "name": "anophthalmos-syndactyly",
            "description": ""
        },
        {
            "id": "MIM:206920",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/206920",
            "name": "Ophthalmoacromelic syndrome",
            "description": "Ophthalmoacromelic syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060861"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060861",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060861",
            "categories": []
        },
        {
            "id": "MONDO:0008800",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008800",
            "categories": []
        },
        {
            "id": "MIM:206920",
            "database": "MIM",
            "url": "https://www.omim.org/entry/206920",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PKH8-1",
            "uniprot_ac": "A0A8M9PKH8",
            "uniprot_id": "A0A8M9PKH8_DANRE",
            "refseq_ac": "XP_021322766",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "SPARC-related modular calcium-binding protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "smoc1",
                    "type": "recommended"
                },
                {
                    "name": "smoc1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PKH8-1",
            "evidence": [
                {
                    "id": "0060861",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060861"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BLY1-1",
            "uniprot_ac": "Q8BLY1",
            "uniprot_id": "SMOC1_MOUSE",
            "refseq_ac": "NP_001139689",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SPARC-related modular calcium-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "SMOC-1",
                    "type": "synonym"
                },
                {
                    "name": "SPARC-related gene protein",
                    "type": "synonym"
                },
                {
                    "name": "SPARC-related modular calcium-binding protein 1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "SPARC-related modular calcium-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SPARC-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Secreted modular calcium-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "secreted modular calcium binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smoc1",
                    "type": "recommended"
                },
                {
                    "name": "2600002F22Rik",
                    "type": "synonym"
                },
                {
                    "name": "SRG",
                    "type": "synonym"
                },
                {
                    "name": "Smoc1",
                    "type": "synonym"
                },
                {
                    "name": "Srg",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BLY1-1",
            "evidence": [
                {
                    "id": "0060861",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060861"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H4F8-1",
            "uniprot_ac": "Q9H4F8",
            "uniprot_id": "SMOC1_HUMAN",
            "refseq_ac": "NP_001030024",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SPARC-related modular calcium-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "SMOC-1",
                    "type": "synonym"
                },
                {
                    "name": "SPARC-related modular calcium-binding protein 1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "Secreted modular calcium-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "secreted modular calcium-binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMOC1",
                    "type": "recommended"
                },
                {
                    "name": "OAS",
                    "type": "synonym"
                },
                {
                    "name": "SMOC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H4F8-1",
            "evidence": [
                {
                    "id": "206920",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/206920"
                },
                {
                    "id": "0060861",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060861"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8J8Y7C5-1",
            "uniprot_ac": "A0A8J8Y7C5",
            "uniprot_id": "A0A8J8Y7C5_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SPARC related modular calcium binding 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smoc1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8J8Y7C5-1",
            "evidence": [
                {
                    "id": "0060861",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060861"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0E9E0-1",
            "uniprot_ac": "Q0E9E0",
            "uniprot_id": "Q0E9E0_DROME",
            "refseq_ac": "NP_610548",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG2264-PB",
                    "type": "synonym"
                },
                {
                    "name": "Magu, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Magu, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Magu, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "magu, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "magu-PB",
                    "type": "synonym"
                },
                {
                    "name": "pentagone",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "magu",
                    "type": "recommended"
                },
                {
                    "name": "CG2264",
                    "type": "synonym"
                },
                {
                    "name": "CT7504",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2264",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2264",
                    "type": "synonym"
                },
                {
                    "name": "PENT",
                    "type": "synonym"
                },
                {
                    "name": "Pent",
                    "type": "synonym"
                },
                {
                    "name": "magu",
                    "type": "synonym"
                },
                {
                    "name": "pent",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0E9E0-1",
            "evidence": [
                {
                    "id": "0060861",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060861"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060861"
}