{
    "disease_id": "DOID:0080441",
    "recommended_name": {
        "id": "DOID:0080441",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080441",
        "name": "developmental and epileptic encephalopathy 49",
        "description": "A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15."
    },
    "synonyms": [
        {
            "id": "DOID:0080441",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080441",
            "name": "DEE49",
            "description": ""
        },
        {
            "id": "DOID:0080441",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080441",
            "name": "early infantile epileptic encephalopathy 49",
            "description": ""
        },
        {
            "id": "MONDO:0015002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015002",
            "name": "developmental and epileptic encephalopathy, 49",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene."
        },
        {
            "id": "MONDO:0015002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015002",
            "name": "DEE49",
            "description": ""
        },
        {
            "id": "MONDO:0015002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015002",
            "name": "DENND5A early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0015002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015002",
            "name": "EIEE49",
            "description": ""
        },
        {
            "id": "MONDO:0015002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015002",
            "name": "developmental and epileptic encephalopathy 49",
            "description": ""
        },
        {
            "id": "MONDO:0015002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015002",
            "name": "early infantile epileptic encephalopathy caused by mutation in DENND5A",
            "description": ""
        },
        {
            "id": "MONDO:0015002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015002",
            "name": "epileptic encephalopathy, early infantile, 49",
            "description": ""
        },
        {
            "id": "MONDO:0015002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015002",
            "name": "epileptic encephalopathy, early infantile, 49; EIEE49",
            "description": ""
        },
        {
            "id": "MONDO:0015002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015002",
            "name": "epileptic encephalopathy, early infantile, type 49",
            "description": ""
        },
        {
            "id": "MIM:617281",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617281",
            "name": "Developmental and epileptic encephalopathy 49",
            "description": "Developmental and epileptic encephalopathy 49"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080441"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080441",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080441",
            "categories": []
        },
        {
            "id": "MONDO:0015002",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015002",
            "categories": []
        },
        {
            "id": "MIM:617281",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617281",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3B1L1-1",
            "uniprot_ac": "A0A8M3B1L1",
            "uniprot_id": "A0A8M3B1L1_DANRE",
            "refseq_ac": "XP_009301846",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DENN domain-containing protein 5A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dennd5a",
                    "type": "recommended"
                },
                {
                    "name": "dennd5a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B1L1-1",
            "evidence": [
                {
                    "id": "0080441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080441"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PAL8-1",
            "uniprot_ac": "Q6PAL8",
            "uniprot_id": "DEN5A_MOUSE",
            "refseq_ac": "NP_001298068",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DENN domain-containing protein 5A",
                    "type": "recommended"
                },
                {
                    "name": "DENN domain-containing protein 5A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "DENN domain-containing protein 5A",
                    "type": "synonym"
                },
                {
                    "name": "DENN/MADD domain containing 5A",
                    "type": "synonym"
                },
                {
                    "name": "Rab6 interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Rab6-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Rab6IP1",
                    "type": "synonym"
                },
                {
                    "name": "rab6-interacting protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dennd5a",
                    "type": "recommended"
                },
                {
                    "name": "1500012B19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dennd5a",
                    "type": "synonym"
                },
                {
                    "name": "ORF37",
                    "type": "synonym"
                },
                {
                    "name": "Rab6ip1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1091",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PAL8-1",
            "evidence": [
                {
                    "id": "0080441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080441"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6IQ26-1",
            "uniprot_ac": "Q6IQ26",
            "uniprot_id": "DEN5A_HUMAN",
            "refseq_ac": "NP_001230183",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DENN domain-containing protein 5A",
                    "type": "recommended"
                },
                {
                    "name": "DENN domain-containing protein 5A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "DENN domain-containing protein 5A",
                    "type": "synonym"
                },
                {
                    "name": "DENN/MADD domain containing 5A",
                    "type": "synonym"
                },
                {
                    "name": "RAB6 interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Rab6-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Rab6IP1",
                    "type": "synonym"
                },
                {
                    "name": "rab6-interacting protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DENND5A",
                    "type": "recommended"
                },
                {
                    "name": "DEE49",
                    "type": "synonym"
                },
                {
                    "name": "DENND5A",
                    "type": "synonym"
                },
                {
                    "name": "EIEE49",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1091",
                    "type": "synonym"
                },
                {
                    "name": "RAB6IP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6IQ26-1",
            "evidence": [
                {
                    "id": "617281",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617281"
                },
                {
                    "id": "0080441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080441"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V7Q0-1",
            "uniprot_ac": "G3V7Q0",
            "uniprot_id": "DEN5A_RAT",
            "refseq_ac": "NP_001101016",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DENN domain-containing protein 5A",
                    "type": "recommended"
                },
                {
                    "name": "DENN domain-containing protein 5A",
                    "type": "synonym"
                },
                {
                    "name": "DENN/MADD domain containing 5A",
                    "type": "synonym"
                },
                {
                    "name": "Rab6 interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Rab6-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Rab6IP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dennd5a",
                    "type": "recommended"
                },
                {
                    "name": "Dennd5a",
                    "type": "synonym"
                },
                {
                    "name": "Rab6ip1",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V7Q0-1",
            "evidence": [
                {
                    "id": "0080441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080441"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W0E1-1",
            "uniprot_ac": "Q9W0E1",
            "uniprot_id": "Q9W0E1_DROME",
            "refseq_ac": "NP_647620",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG7852-PA",
                    "type": "synonym"
                },
                {
                    "name": "Pinstripe, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Pinstripe, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "pinstripe, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "pns-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pns",
                    "type": "recommended"
                },
                {
                    "name": "CG7852",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7852",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7852",
                    "type": "synonym"
                },
                {
                    "name": "pns",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W0E1-1",
            "evidence": [
                {
                    "id": "0080441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080441"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080441"
}