{
    "disease_id": "DOID:0111674",
    "recommended_name": {
        "id": "DOID:0111674",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111674",
        "name": "intellectual developmental disorder with short stature and behavioral abnormalities",
        "description": "A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111674",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111674",
            "name": "IDDSSBA",
            "description": ""
        },
        {
            "id": "MONDO:0032870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032870",
            "name": "intellectual developmental disorder with short stature and behavioral abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0032870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032870",
            "name": "IDDSSBA",
            "description": ""
        },
        {
            "id": "MIM:618687",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618687",
            "name": "Intellectual developmental disorder with short stature and behavioral abnormalities",
            "description": "Intellectual developmental disorder with short stature and behavioral abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111674"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111674",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111674",
            "categories": []
        },
        {
            "id": "MONDO:0032870",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032870",
            "categories": []
        },
        {
            "id": "MIM:618687",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618687",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB13A8W6-1",
            "uniprot_ac": "A0AB13A8W6",
            "uniprot_id": "A0AB13A8W6_DANRE",
            "refseq_ac": "NP_001373523",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "IQ motif and Sec7 domain 1a",
                    "type": "synonym"
                },
                {
                    "name": "IQ motif and Sec7 domain ArfGEF 1a isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "iqsec1a",
                    "type": "recommended"
                },
                {
                    "name": "iqsec1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A8W6-1",
            "evidence": [
                {
                    "id": "0111674",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111674"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ACD6B5E1-1",
            "uniprot_ac": "A0ACD6B5E1",
            "uniprot_id": "A0ACD6B5E1_DANRE",
            "refseq_ac": "XP_005169390",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "IQ motif and SEC7 domain-containing protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "iqsec1b",
                    "type": "recommended"
                },
                {
                    "name": "iqsec1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5E1-1",
            "evidence": [
                {
                    "id": "0111674",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111674"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R0S2-1",
            "uniprot_ac": "Q8R0S2",
            "uniprot_id": "IQEC1_MOUSE",
            "refseq_ac": "NP_001127855",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "IQ motif and SEC7 domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "IQ motif and SEC7 domain-containing protein 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "IQ motif and SEC7 domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Iqsec1",
                    "type": "recommended"
                },
                {
                    "name": "BRAG2",
                    "type": "synonym"
                },
                {
                    "name": "D6Ertd349e",
                    "type": "synonym"
                },
                {
                    "name": "Iqsec1",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0763",
                    "type": "synonym"
                },
                {
                    "name": "cI-43",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R0S2-1",
            "evidence": [
                {
                    "id": "0111674",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111674"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6DN90-1",
            "uniprot_ac": "Q6DN90",
            "uniprot_id": "IQEC1_HUMAN",
            "refseq_ac": "NP_001127854",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "IQ motif and SEC7 domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "ADP-ribosylation factors guanine nucleotide-exchange protein 100",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factors guanine nucleotide-exchange protein 2",
                    "type": "synonym"
                },
                {
                    "name": "BRAG2",
                    "type": "synonym"
                },
                {
                    "name": "Brefeldin-resistant Arf-GEF 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "IQ motif and SEC7 domain-containing protein 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "IQ motif and SEC7 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "IQ motif and Sec7 domain 1",
                    "type": "synonym"
                },
                {
                    "name": "brefeldin A-resistant ARF-GEF2",
                    "type": "synonym"
                },
                {
                    "name": "brefeldin-resistant Arf-GEF 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IQSEC1",
                    "type": "recommended"
                },
                {
                    "name": "ARF-GEP100",
                    "type": "synonym"
                },
                {
                    "name": "ARFGEP100",
                    "type": "synonym"
                },
                {
                    "name": "BRAG2",
                    "type": "synonym"
                },
                {
                    "name": "GEP100",
                    "type": "synonym"
                },
                {
                    "name": "IDDSSBA",
                    "type": "synonym"
                },
                {
                    "name": "IQSEC1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0763",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DN90-1",
            "evidence": [
                {
                    "id": "618687",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618687"
                },
                {
                    "id": "0111674",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111674"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JUG7-1",
            "uniprot_ac": "A0A0G2JUG7",
            "uniprot_id": "IQEC1_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": "IQ motif and SEC7 domain-containing protein 1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Iqsec1",
                    "type": "recommended"
                },
                {
                    "name": "Brag2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JUG7-1",
            "evidence": [
                {
                    "id": "0111674",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111674"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VP80-1",
            "uniprot_ac": "Q9VP80",
            "uniprot_id": "Q9VP80_DROME",
            "refseq_ac": "NP_730594",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG32434-PB",
                    "type": "synonym"
                },
                {
                    "name": "Schizo, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "dBRAG",
                    "type": "synonym"
                },
                {
                    "name": "loner",
                    "type": "synonym"
                },
                {
                    "name": "schizo, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "schizo",
                    "type": "synonym"
                },
                {
                    "name": "siz-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Iqsec",
                    "type": "recommended"
                },
                {
                    "name": "CG10577",
                    "type": "synonym"
                },
                {
                    "name": "CG12980",
                    "type": "synonym"
                },
                {
                    "name": "CG12981",
                    "type": "synonym"
                },
                {
                    "name": "CG32434",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32434",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32434",
                    "type": "synonym"
                },
                {
                    "name": "Loner",
                    "type": "synonym"
                },
                {
                    "name": "Schizo",
                    "type": "synonym"
                },
                {
                    "name": "Siz",
                    "type": "synonym"
                },
                {
                    "name": "loner",
                    "type": "synonym"
                },
                {
                    "name": "siz",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VP80-1",
            "evidence": [
                {
                    "id": "0111674",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111674"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111674"
}