{
    "disease_id": "DOID:0111802",
    "recommended_name": {
        "id": "DOID:0111802",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111802",
        "name": "syndromic microphthalmia 14",
        "description": "A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111802",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111802",
            "name": "colobomatous microphthalmia-rhizomelic dysplasia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111802",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111802",
            "name": "microphthalmia/coloboma and skeletal dysplasia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111802",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111802",
            "name": "MCOPS14",
            "description": ""
        },
        {
            "id": "DOID:0111802",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111802",
            "name": "MCSKS",
            "description": ""
        },
        {
            "id": "DOID:0111802",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111802",
            "name": "microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0014380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014380",
            "name": "colobomatous microphthalmia-rhizomelic dysplasia syndrome",
            "description": "Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present."
        },
        {
            "id": "MONDO:0014380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014380",
            "name": "microphthalmia, syndromic type 14",
            "description": ""
        },
        {
            "id": "MONDO:0014380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014380",
            "name": "microphthalmia-coloboma-rhizomelic skeletal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0014380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014380",
            "name": "MCOPS14",
            "description": ""
        },
        {
            "id": "MONDO:0014380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014380",
            "name": "MCSKS",
            "description": ""
        },
        {
            "id": "MONDO:0014380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014380",
            "name": "microphthalmia, syndromic 14",
            "description": ""
        },
        {
            "id": "MIM:615877",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615877",
            "name": "Microphthalmia/coloboma and skeletal dysplasia syndrome",
            "description": "Microphthalmia/coloboma and skeletal dysplasia syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111802"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111802",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111802",
            "categories": []
        },
        {
            "id": "MONDO:0014380",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014380",
            "categories": []
        },
        {
            "id": "MIM:615877",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615877",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8UUZ1-1",
            "uniprot_ac": "Q8UUZ1",
            "uniprot_id": "MB212_DANRE",
            "refseq_ac": "NP_694507",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein mab-21-like 2",
                    "type": "recommended"
                },
                {
                    "name": "protein mab-21-like 2",
                    "type": "synonym"
                },
                {
                    "name": "unm_au10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mab21l2",
                    "type": "recommended"
                },
                {
                    "name": "id:ibd3414",
                    "type": "synonym"
                },
                {
                    "name": "mab21l2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8UUZ1-1",
            "evidence": [
                {
                    "id": "0111802",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111802"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BPP1-1",
            "uniprot_ac": "Q8BPP1",
            "uniprot_id": "MB212_MOUSE",
            "refseq_ac": "NP_035969",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein mab-21-like 2",
                    "type": "recommended"
                },
                {
                    "name": "protein mab-21-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mab21l2",
                    "type": "recommended"
                },
                {
                    "name": "Mab21l2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BPP1-1",
            "evidence": [
                {
                    "id": "0111802",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111802"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y586-1",
            "uniprot_ac": "Q9Y586",
            "uniprot_id": "MB212_HUMAN",
            "refseq_ac": "NP_006430",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein mab-21-like 2",
                    "type": "recommended"
                },
                {
                    "name": "protein mab-21-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAB21L2",
                    "type": "recommended"
                },
                {
                    "name": "MAB21L2",
                    "type": "synonym"
                },
                {
                    "name": "MCOPS14",
                    "type": "synonym"
                },
                {
                    "name": "MCSKS14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y586-1",
            "evidence": [
                {
                    "id": "615877",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615877"
                },
                {
                    "id": "0111802",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111802"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ACZ1-1",
            "uniprot_ac": "D4ACZ1",
            "uniprot_id": "D4ACZ1_RAT",
            "refseq_ac": "NP_001102861",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mab-21 like 2",
                    "type": "synonym"
                },
                {
                    "name": "protein mab-21-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mab21l2",
                    "type": "recommended"
                },
                {
                    "name": "Mab21l2",
                    "type": "synonym"
                }
            ],
            "record_id": "D4ACZ1-1",
            "evidence": [
                {
                    "id": "0111802",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111802"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9U3W6-1",
            "uniprot_ac": "Q9U3W6",
            "uniprot_id": "MAB21_DROME",
            "refseq_ac": "NP_651971",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein mab-21",
                    "type": "recommended"
                },
                {
                    "name": "CG4746-PA",
                    "type": "synonym"
                },
                {
                    "name": "mab-21-PA",
                    "type": "synonym"
                },
                {
                    "name": "mab-21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mab-21",
                    "type": "recommended"
                },
                {
                    "name": "CG4746",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4746",
                    "type": "synonym"
                },
                {
                    "name": "mab-21",
                    "type": "synonym"
                },
                {
                    "name": "mab-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9U3W6-1",
            "evidence": [
                {
                    "id": "0111802",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111802"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y106-1",
            "uniprot_ac": "Q9Y106",
            "uniprot_id": "MB21L_DROME",
            "refseq_ac": "NP_572287",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein mab-21-like",
                    "type": "recommended"
                },
                {
                    "name": "CG4766-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BcDNA:GH11415",
                    "type": "synonym"
                },
                {
                    "name": "CG4766",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4766",
                    "type": "synonym"
                },
                {
                    "name": "gh11415",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y106-1",
            "evidence": [
                {
                    "id": "0111802",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111802"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111802"
}