{
    "disease_id": "DOID:0060409",
    "recommended_name": {
        "id": "DOID:0060409",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060409",
        "name": "NFIA-related disorder",
        "description": "A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia."
    },
    "synonyms": [
        {
            "id": "DOID:0060409",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060409",
            "name": "1p31p32 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060409",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060409",
            "name": "Chromosome 1, Monosomy 1p32",
            "description": ""
        },
        {
            "id": "DOID:0060409",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060409",
            "name": "chromosome 1p32-p31 deletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060409",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060409",
            "name": "brain malformations with or without urinary tract defects",
            "description": ""
        },
        {
            "id": "MONDO:0100478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100478",
            "name": "brain malformations with or without urinary tract defects",
            "description": "A brain disorder caused by pathogenic variants in NFIA that is characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures."
        },
        {
            "id": "MIM:613735",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613735",
            "name": "Brain malformations with or without urinary tract defects",
            "description": "Brain malformations with or without urinary tract defects"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060409"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060409",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060409",
            "categories": []
        },
        {
            "id": "MONDO:0100478",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100478",
            "categories": []
        },
        {
            "id": "MIM:613735",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613735",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AM79-1",
            "uniprot_ac": "A0A8M3AM79",
            "uniprot_id": "A0A8M3AM79_DANRE",
            "refseq_ac": "XP_009294512",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear factor 1",
                    "type": "recommended"
                },
                {
                    "name": "nuclear factor 1 A-type isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nfia",
                    "type": "recommended"
                },
                {
                    "name": "nfia",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-88d2.2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fq27e07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158351",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AM79-1",
            "evidence": [
                {
                    "id": "0060409",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060409"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02780-1",
            "uniprot_ac": "Q02780",
            "uniprot_id": "NFIA_MOUSE",
            "refseq_ac": "NP_001116424",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear factor 1 A-type",
                    "type": "recommended"
                },
                {
                    "name": "CCAAT-box-binding transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "CTF",
                    "type": "synonym"
                },
                {
                    "name": "NF-I/A",
                    "type": "synonym"
                },
                {
                    "name": "NF1-A",
                    "type": "synonym"
                },
                {
                    "name": "NFI-A",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor 1/A",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor I/A",
                    "type": "synonym"
                },
                {
                    "name": "TGGCA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor 1 A-type isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor 1 A-type",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor 1/A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nfia",
                    "type": "recommended"
                },
                {
                    "name": "1110047K16Rik",
                    "type": "synonym"
                },
                {
                    "name": "9430022M17Rik",
                    "type": "synonym"
                },
                {
                    "name": "CTF",
                    "type": "synonym"
                },
                {
                    "name": "NF1-A",
                    "type": "synonym"
                },
                {
                    "name": "NF1A",
                    "type": "synonym"
                },
                {
                    "name": "Nfia",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02780-1",
            "evidence": [
                {
                    "id": "0060409",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060409"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12857-1",
            "uniprot_ac": "Q12857",
            "uniprot_id": "NFIA_HUMAN",
            "refseq_ac": "NP_001128145",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear factor 1 A-type",
                    "type": "recommended"
                },
                {
                    "name": "CCAAT-box-binding transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "CTF",
                    "type": "synonym"
                },
                {
                    "name": "NF-I/A",
                    "type": "synonym"
                },
                {
                    "name": "NF1-A",
                    "type": "synonym"
                },
                {
                    "name": "NFI-A",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor 1/A",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor I/A",
                    "type": "synonym"
                },
                {
                    "name": "TGGCA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor 1 A-type isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor 1 A-type",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NFIA",
                    "type": "recommended"
                },
                {
                    "name": "BRMUTD",
                    "type": "synonym"
                },
                {
                    "name": "C1DELp32p31",
                    "type": "synonym"
                },
                {
                    "name": "CTF",
                    "type": "synonym"
                },
                {
                    "name": "DEL1P32P31",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1439",
                    "type": "synonym"
                },
                {
                    "name": "NF-I/A",
                    "type": "synonym"
                },
                {
                    "name": "NF1-A",
                    "type": "synonym"
                },
                {
                    "name": "NFI-A",
                    "type": "synonym"
                },
                {
                    "name": "NFI-L",
                    "type": "synonym"
                },
                {
                    "name": "NFIA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12857-1",
            "evidence": [
                {
                    "id": "613735",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613735"
                },
                {
                    "id": "0060409",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060409"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09414-1",
            "uniprot_ac": "P09414",
            "uniprot_id": "NFIA_RAT",
            "refseq_ac": "NP_037120",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear factor 1 A-type",
                    "type": "recommended"
                },
                {
                    "name": "CCAAT-box-binding transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "CTF",
                    "type": "synonym"
                },
                {
                    "name": "NF-I/A",
                    "type": "synonym"
                },
                {
                    "name": "NF1-A",
                    "type": "synonym"
                },
                {
                    "name": "NFI-A",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor 1/A",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor I/A",
                    "type": "synonym"
                },
                {
                    "name": "TGGCA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor 1 A-type isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor 1 A-type",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor 1/A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nfia",
                    "type": "recommended"
                },
                {
                    "name": "Nf1l21",
                    "type": "synonym"
                },
                {
                    "name": "Nfia",
                    "type": "synonym"
                }
            ],
            "record_id": "P09414-1",
            "evidence": [
                {
                    "id": "0060409",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060409"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95977-1",
            "uniprot_ac": "O95977",
            "uniprot_id": "S1PR4_HUMAN",
            "refseq_ac": "NP_003766",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sphingosine 1-phosphate receptor 4",
                    "type": "recommended"
                },
                {
                    "name": "Endothelial differentiation G protein-coupled receptor 6",
                    "type": "synonym"
                },
                {
                    "name": "S1P receptor 4",
                    "type": "synonym"
                },
                {
                    "name": "S1P receptor Edg-6",
                    "type": "synonym"
                },
                {
                    "name": "S1P4",
                    "type": "synonym"
                },
                {
                    "name": "Sphingosine 1-phosphate receptor Edg-6",
                    "type": "synonym"
                },
                {
                    "name": "endothelial differentiation G-protein coupled receptor 6",
                    "type": "synonym"
                },
                {
                    "name": "endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine 1-phosphate receptor 4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine 1-phosphate receptor Edg-6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "S1PR4",
                    "type": "recommended"
                },
                {
                    "name": "EDG6",
                    "type": "synonym"
                },
                {
                    "name": "LPC1",
                    "type": "synonym"
                },
                {
                    "name": "S1P4",
                    "type": "synonym"
                },
                {
                    "name": "S1PR4",
                    "type": "synonym"
                },
                {
                    "name": "SLP4",
                    "type": "synonym"
                }
            ],
            "record_id": "O95977-1",
            "evidence": [
                {
                    "id": "0060409",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060409"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060409"
}