{
    "disease_id": "DOID:0081272",
    "recommended_name": {
        "id": "DOID:0081272",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081272",
        "name": "Sandestig-Stefanova syndrome",
        "description": "A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "MONDO:0032926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032926",
            "name": "sandestig-stefanova syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0032926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032926",
            "name": "SANDSTEF",
            "description": ""
        },
        {
            "id": "MIM:618804",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618804",
            "name": "Sandestig-Stefanova syndrome",
            "description": "Sandestig-Stefanova syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081272"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081272",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081272",
            "categories": []
        },
        {
            "id": "MONDO:0032926",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032926",
            "categories": []
        },
        {
            "id": "MIM:618804",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618804",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7EXJ6-1",
            "uniprot_ac": "E7EXJ6",
            "uniprot_id": "E7EXJ6_DANRE",
            "refseq_ac": "XP_001923018",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleoporin NUP188",
                    "type": "recommended"
                },
                {
                    "name": "nucleoporin NUP188",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nup188",
                    "type": "recommended"
                },
                {
                    "name": "nup188",
                    "type": "synonym"
                }
            ],
            "record_id": "E7EXJ6-1",
            "evidence": [
                {
                    "id": "0081272",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081272"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZQH8-1",
            "uniprot_ac": "Q6ZQH8",
            "uniprot_id": "NU188_MOUSE",
            "refseq_ac": "NP_938046",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleoporin NUP188",
                    "type": "recommended"
                },
                {
                    "name": "nucleoporin NUP188 homolog",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin NUP188 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup188",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa0169",
                    "type": "synonym"
                },
                {
                    "name": "Nup188",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZQH8-1",
            "evidence": [
                {
                    "id": "0081272",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081272"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5SRE5-1",
            "uniprot_ac": "Q5SRE5",
            "uniprot_id": "NU188_HUMAN",
            "refseq_ac": "NP_056169",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleoporin NUP188",
                    "type": "recommended"
                },
                {
                    "name": "hNup188",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 188kDa",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin NUP188 homolog",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin NUP188",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NUP188",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0169",
                    "type": "synonym"
                },
                {
                    "name": "NUP188",
                    "type": "synonym"
                },
                {
                    "name": "SANDSTEF",
                    "type": "synonym"
                },
                {
                    "name": "hNup188",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5SRE5-1",
            "evidence": [
                {
                    "id": "618804",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618804"
                },
                {
                    "id": "0081272",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081272"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LRC6-1",
            "uniprot_ac": "F1LRC6",
            "uniprot_id": "F1LRC6_RAT",
            "refseq_ac": "XP_006233967",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleoporin NUP188",
                    "type": "recommended"
                },
                {
                    "name": "nucleoporin NUP188 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup188",
                    "type": "recommended"
                },
                {
                    "name": "Nup188",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LRC6-1",
            "evidence": [
                {
                    "id": "0081272",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081272"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4K859-1",
            "uniprot_ac": "A0A0B4K859",
            "uniprot_id": "NU188_DROME",
            "refseq_ac": "NP_001246283",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleoporin Nup188",
                    "type": "recommended"
                },
                {
                    "name": "CG8771-PC",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin 188kDa",
                    "type": "synonym"
                },
                {
                    "name": "Nup188-PC",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 188kDa, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup188",
                    "type": "recommended"
                },
                {
                    "name": "CG8771",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8771",
                    "type": "synonym"
                },
                {
                    "name": "Nup188",
                    "type": "synonym"
                },
                {
                    "name": "nup188",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4K859-1",
            "evidence": [
                {
                    "id": "0081272",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081272"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081272"
}