{
    "disease_id": "DOID:0111811",
    "recommended_name": {
        "id": "DOID:0111811",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111811",
        "name": "syndromic microphthalmia 13",
        "description": "A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0111811",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111811",
            "name": "MCOPS13",
            "description": ""
        },
        {
            "id": "DOID:0111811",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111811",
            "name": "Maine microphthalmos",
            "description": ""
        },
        {
            "id": "DOID:0111811",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111811",
            "name": "colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation",
            "description": ""
        },
        {
            "id": "DOID:0111811",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111811",
            "name": "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010485",
            "name": "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome",
            "description": "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus."
        },
        {
            "id": "MONDO:0010485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010485",
            "name": "X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010485",
            "name": "microphthalmia, syndromic type 13",
            "description": ""
        },
        {
            "id": "MONDO:0010485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010485",
            "name": "MCOPS13",
            "description": ""
        },
        {
            "id": "MONDO:0010485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010485",
            "name": "microphthalmia, syndromic 13",
            "description": ""
        },
        {
            "id": "MIM:300915",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300915",
            "name": "Microphthalmia, syndromic, 13",
            "description": "Microphthalmia, syndromic, 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111811"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111811",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111811",
            "categories": []
        },
        {
            "id": "MONDO:0010485",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010485",
            "categories": []
        },
        {
            "id": "MIM:300915",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300915",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QGP8-1",
            "uniprot_ac": "F1QGP8",
            "uniprot_id": "F1QGP8_DANRE",
            "refseq_ac": "NP_001116308",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "High mobility group protein B3a",
                    "type": "synonym"
                },
                {
                    "name": "high mobility group protein B3a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hmgb3a",
                    "type": "recommended"
                },
                {
                    "name": "hmgb3a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb17a03",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk52f12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:162415",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QGP8-1",
            "evidence": [
                {
                    "id": "0111811",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111811"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O54879-1",
            "uniprot_ac": "O54879",
            "uniprot_id": "HMGB3_MOUSE",
            "refseq_ac": "NP_001280552",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "High mobility group protein B3",
                    "type": "recommended"
                },
                {
                    "name": "HMG-2a",
                    "type": "synonym"
                },
                {
                    "name": "HMG-4",
                    "type": "synonym"
                },
                {
                    "name": "High mobility group protein 2a",
                    "type": "synonym"
                },
                {
                    "name": "High mobility group protein 4",
                    "type": "synonym"
                },
                {
                    "name": "high mobility group protein 2a",
                    "type": "synonym"
                },
                {
                    "name": "high mobility group protein 4",
                    "type": "synonym"
                },
                {
                    "name": "high mobility group protein B3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "high mobility group protein B3",
                    "type": "synonym"
                },
                {
                    "name": "high mobilty group protein 2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hmgb3",
                    "type": "recommended"
                },
                {
                    "name": "Hmg2a",
                    "type": "synonym"
                },
                {
                    "name": "Hmg4",
                    "type": "synonym"
                },
                {
                    "name": "Hmgb3",
                    "type": "synonym"
                }
            ],
            "record_id": "O54879-1",
            "evidence": [
                {
                    "id": "0111811",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111811"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15347-1",
            "uniprot_ac": "O15347",
            "uniprot_id": "HMGB3_HUMAN",
            "refseq_ac": "NP_001288157",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "High mobility group protein B3",
                    "type": "recommended"
                },
                {
                    "name": "HMG-2a",
                    "type": "synonym"
                },
                {
                    "name": "HMG-4",
                    "type": "synonym"
                },
                {
                    "name": "High mobility group protein 2a",
                    "type": "synonym"
                },
                {
                    "name": "High mobility group protein 4",
                    "type": "synonym"
                },
                {
                    "name": "high mobility group protein 2a",
                    "type": "synonym"
                },
                {
                    "name": "high mobility group protein B3 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "high mobility group protein B3",
                    "type": "synonym"
                },
                {
                    "name": "high-mobility group (nonhistone chromosomal) protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HMGB3",
                    "type": "recommended"
                },
                {
                    "name": "HMG-2a",
                    "type": "synonym"
                },
                {
                    "name": "HMG-4",
                    "type": "synonym"
                },
                {
                    "name": "HMG2A",
                    "type": "synonym"
                },
                {
                    "name": "HMG4",
                    "type": "synonym"
                },
                {
                    "name": "HMGB3",
                    "type": "synonym"
                }
            ],
            "record_id": "O15347-1",
            "evidence": [
                {
                    "id": "300915",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300915"
                },
                {
                    "id": "0111811",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111811"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02486-1",
            "uniprot_ac": "Q02486",
            "uniprot_id": "ABF2_YEAST",
            "refseq_ac": "NP_013788",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "ARS-binding factor 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "DNA-binding protein ABF2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ABF2",
                    "type": "recommended"
                },
                {
                    "name": "ABF2",
                    "type": "synonym"
                },
                {
                    "name": "HIM1",
                    "type": "synonym"
                },
                {
                    "name": "YM9916.11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02486-1",
            "evidence": [
                {
                    "id": "0111811",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111811"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11632-1",
            "uniprot_ac": "P11632",
            "uniprot_id": "NHP6A_YEAST",
            "refseq_ac": "NP_015377",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Non-histone chromosomal protein 6A",
                    "type": "recommended"
                },
                {
                    "name": "high-mobility group nucleosome-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NHP6A",
                    "type": "recommended"
                },
                {
                    "name": "NHP6A",
                    "type": "synonym"
                },
                {
                    "name": "NHPA",
                    "type": "synonym"
                },
                {
                    "name": "YP9499.09C",
                    "type": "synonym"
                }
            ],
            "record_id": "P11632-1",
            "evidence": [
                {
                    "id": "0111811",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111811"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6ACD7-1",
            "uniprot_ac": "A0A8I6ACD7",
            "uniprot_id": "A0A8I6ACD7_RAT",
            "refseq_ac": "XP_038948518",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "High mobility group protein B3",
                    "type": "recommended"
                },
                {
                    "name": "High mobility group protein 2a",
                    "type": "synonym"
                },
                {
                    "name": "High mobility group protein 4",
                    "type": "synonym"
                },
                {
                    "name": "high mobility group protein B3-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hmgb3l1",
                    "type": "recommended"
                },
                {
                    "name": "Hmgb3",
                    "type": "recommended"
                },
                {
                    "name": "Hmgb3l1",
                    "type": "synonym"
                },
                {
                    "name": "LOC108348204",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6ACD7-1",
            "evidence": [
                {
                    "id": "0111811",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111811"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24537-1",
            "uniprot_ac": "Q24537",
            "uniprot_id": "HMG2_DROME",
            "refseq_ac": "NP_001285322",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "High mobility group protein DSP1",
                    "type": "recommended"
                },
                {
                    "name": "CG12223-PG",
                    "type": "synonym"
                },
                {
                    "name": "Dsp1-PG",
                    "type": "synonym"
                },
                {
                    "name": "Hmg14B",
                    "type": "synonym"
                },
                {
                    "name": "Protein dorsal switch 1",
                    "type": "synonym"
                },
                {
                    "name": "dorsal switch protein 1, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "dorsal switch protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dorsal switch protein-1",
                    "type": "synonym"
                },
                {
                    "name": "structure specific recognition protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dsp1",
                    "type": "recommended"
                },
                {
                    "name": "CG12223",
                    "type": "synonym"
                },
                {
                    "name": "DSP1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12223",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12223",
                    "type": "synonym"
                },
                {
                    "name": "Dsp1",
                    "type": "synonym"
                },
                {
                    "name": "HMGB1",
                    "type": "synonym"
                },
                {
                    "name": "HMGD1",
                    "type": "synonym"
                },
                {
                    "name": "Hmg14B",
                    "type": "synonym"
                },
                {
                    "name": "Hmg14D",
                    "type": "synonym"
                },
                {
                    "name": "Ssrp2",
                    "type": "synonym"
                },
                {
                    "name": "dsp1",
                    "type": "synonym"
                },
                {
                    "name": "hmg",
                    "type": "synonym"
                },
                {
                    "name": "ssrp2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24537-1",
            "evidence": [
                {
                    "id": "0111811",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111811"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111811"
}