{
    "disease_id": "DOID:0080459",
    "recommended_name": {
        "id": "DOID:0080459",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080459",
        "name": "developmental and epileptic encephalopathy 12",
        "description": "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3."
    },
    "synonyms": [
        {
            "id": "DOID:0080459",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080459",
            "name": "DEE12",
            "description": ""
        },
        {
            "id": "DOID:0080459",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080459",
            "name": "early infantile epileptic encephalopathy 12",
            "description": ""
        },
        {
            "id": "MONDO:0013389",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013389",
            "name": "developmental and epileptic encephalopathy, 12",
            "description": "An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion."
        },
        {
            "id": "MONDO:0013389",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013389",
            "name": "DEE12",
            "description": ""
        },
        {
            "id": "MONDO:0013389",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013389",
            "name": "EIEE12",
            "description": ""
        },
        {
            "id": "MONDO:0013389",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013389",
            "name": "PLCB1 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013389",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013389",
            "name": "developmental and epileptic encephalopathy 12",
            "description": ""
        },
        {
            "id": "MONDO:0013389",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013389",
            "name": "developmental and epileptic encephalopathy, 12",
            "description": ""
        },
        {
            "id": "MONDO:0013389",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013389",
            "name": "early infantile epileptic encephalopathy 12",
            "description": ""
        },
        {
            "id": "MONDO:0013389",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013389",
            "name": "early infantile epileptic encephalopathy caused by mutation in PLCB1",
            "description": ""
        },
        {
            "id": "MONDO:0013389",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013389",
            "name": "epileptic encephalopathy, early infantile, 12",
            "description": ""
        },
        {
            "id": "MONDO:0013389",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013389",
            "name": "epileptic encephalopathy, early infantile, type 12",
            "description": ""
        },
        {
            "id": "MIM:613722",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613722",
            "name": "Developmental and epileptic encephalopathy 12",
            "description": "Developmental and epileptic encephalopathy 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080459"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080459",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080459",
            "categories": []
        },
        {
            "id": "MONDO:0013389",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013389",
            "categories": []
        },
        {
            "id": "MIM:613722",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613722",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z1B3-1",
            "uniprot_ac": "Q9Z1B3",
            "uniprot_id": "PLCB1_MOUSE",
            "refseq_ac": "NP_001139302",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "PLC-154",
                    "type": "synonym"
                },
                {
                    "name": "PLC-beta-1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide phospholipase C-beta-1",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-beta-1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide phospholipase C-beta-1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide phospholipase C",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase C-beta-1a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plcb1",
                    "type": "recommended"
                },
                {
                    "name": "3110043I21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Plcb1",
                    "type": "synonym"
                },
                {
                    "name": "Plcb",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0581",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z1B3-1",
            "evidence": [
                {
                    "id": "0080459",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080459"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NQ66-1",
            "uniprot_ac": "Q9NQ66",
            "uniprot_id": "PLCB1_HUMAN",
            "refseq_ac": "NP_056007",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidyl-D-myo-inositol-4,5-bisphosphate",
                    "type": "synonym"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "PLC-154",
                    "type": "synonym"
                },
                {
                    "name": "PLC-I",
                    "type": "synonym"
                },
                {
                    "name": "PLC-beta-1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide phospholipase C-beta-1",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-I",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-beta-1",
                    "type": "synonym"
                },
                {
                    "name": "inositoltrisphosphohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "monophosphatidylinositol phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositidase C",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide phospholipase C",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase C, beta 1 (phosphoinositide-specific)",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase C-I",
                    "type": "synonym"
                },
                {
                    "name": "triphosphoinositide phosphodiesterase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLCB1",
                    "type": "recommended"
                },
                {
                    "name": "DEE12",
                    "type": "synonym"
                },
                {
                    "name": "EIEE12",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0581",
                    "type": "synonym"
                },
                {
                    "name": "PI-PLC",
                    "type": "synonym"
                },
                {
                    "name": "PLC-154",
                    "type": "synonym"
                },
                {
                    "name": "PLC-I",
                    "type": "synonym"
                },
                {
                    "name": "PLC-beta-1",
                    "type": "synonym"
                },
                {
                    "name": "PLC154",
                    "type": "synonym"
                },
                {
                    "name": "PLCB1A",
                    "type": "synonym"
                },
                {
                    "name": "PLCB1B",
                    "type": "synonym"
                },
                {
                    "name": "PLCB1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NQ66-1",
            "evidence": [
                {
                    "id": "613722",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613722"
                },
                {
                    "id": "0080459",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080459"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32383-1",
            "uniprot_ac": "P32383",
            "uniprot_id": "PLC1_YEAST",
            "refseq_ac": "NP_015055",
            "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": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "PLC-1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide phospholipase C",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol phospholipase C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLC1",
                    "type": "recommended"
                },
                {
                    "name": "PLC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32383-1",
            "evidence": [
                {
                    "id": "0080459",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080459"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10687-1",
            "uniprot_ac": "P10687",
            "uniprot_id": "PLCB1_RAT",
            "refseq_ac": "NP_001071109",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "PLC-154",
                    "type": "synonym"
                },
                {
                    "name": "PLC-I",
                    "type": "synonym"
                },
                {
                    "name": "PLC-beta-1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide phospholipase C-beta-1",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-I",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-beta-1",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-beta1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide phospholipase C-beta-1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide phospholipase C",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase C, beta 1 (phosphoinositide-specific)",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase C-I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plcb1",
                    "type": "recommended"
                },
                {
                    "name": "PLC'1",
                    "type": "synonym"
                },
                {
                    "name": "PLCbeta1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphb",
                    "type": "synonym"
                },
                {
                    "name": "Plcb1",
                    "type": "synonym"
                },
                {
                    "name": "RATPHOSPHB",
                    "type": "synonym"
                }
            ],
            "record_id": "P10687-1",
            "evidence": [
                {
                    "id": "0080459",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080459"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25455-3",
            "uniprot_ac": "P25455",
            "uniprot_id": "PIP1_DROME",
            "refseq_ac": "NP_001259818",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase classes I and II",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "CG4574-PG",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide phospholipase C",
                    "type": "synonym"
                },
                {
                    "name": "Plc21C-PG",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase C 21C",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase C at 21C, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase c at 21c",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plc21C",
                    "type": "recommended"
                },
                {
                    "name": "CG4574",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4574",
                    "type": "synonym"
                },
                {
                    "name": "PLC-21C",
                    "type": "synonym"
                },
                {
                    "name": "PLC-21",
                    "type": "synonym"
                },
                {
                    "name": "PLC21C",
                    "type": "synonym"
                },
                {
                    "name": "PLC21c",
                    "type": "synonym"
                },
                {
                    "name": "PLC[[Beta]]",
                    "type": "synonym"
                },
                {
                    "name": "PLC",
                    "type": "synonym"
                },
                {
                    "name": "Plc21C",
                    "type": "synonym"
                },
                {
                    "name": "Plc21c",
                    "type": "synonym"
                },
                {
                    "name": "Plc21",
                    "type": "synonym"
                },
                {
                    "name": "Plcbeta21C",
                    "type": "synonym"
                },
                {
                    "name": "plc-21",
                    "type": "synonym"
                },
                {
                    "name": "plc21C",
                    "type": "synonym"
                },
                {
                    "name": "plc21c",
                    "type": "synonym"
                },
                {
                    "name": "plc21",
                    "type": "synonym"
                },
                {
                    "name": "plcbeta21c",
                    "type": "synonym"
                }
            ],
            "record_id": "P25455-3",
            "evidence": [
                {
                    "id": "0080459",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080459"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NRM1-1",
            "uniprot_ac": "Q9NRM1",
            "uniprot_id": "ENAM_HUMAN",
            "refseq_ac": "NP_114095",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Enamelin",
                    "type": "recommended"
                },
                {
                    "name": "amelogenesis imperfecta 2, hypocalcification (autosomal dominant)",
                    "type": "synonym"
                },
                {
                    "name": "enamelin isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ENAM",
                    "type": "recommended"
                },
                {
                    "name": "ADAI",
                    "type": "synonym"
                },
                {
                    "name": "AI1C",
                    "type": "synonym"
                },
                {
                    "name": "AIH2",
                    "type": "synonym"
                },
                {
                    "name": "ENAM",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NRM1-1",
            "evidence": [
                {
                    "id": "0080459",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080459"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080459"
}