{
    "disease_id": "DOID:0070391",
    "recommended_name": {
        "id": "DOID:0070391",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070391",
        "name": "developmental and epileptic encephalopathy 105",
        "description": "A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25."
    },
    "synonyms": [
        {
            "id": "DOID:0070391",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070391",
            "name": "DEE105",
            "description": ""
        },
        {
            "id": "DOID:0070391",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070391",
            "name": "early infantile epileptic encephalopathy 105",
            "description": ""
        },
        {
            "id": "MONDO:0031028",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031028",
            "name": "developmental and epileptic encephalopathy 105 with hypopituitarism",
            "description": "A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has material basis in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25."
        },
        {
            "id": "MONDO:0031028",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031028",
            "name": "DEE105",
            "description": ""
        },
        {
            "id": "MONDO:0031028",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031028",
            "name": "developmental and epileptic encephalopathy 105 with hypopituitarism",
            "description": ""
        },
        {
            "id": "MIM:619983",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619983",
            "name": "Developmental and epileptic encephalopathy 105 with hypopituitarism",
            "description": "Developmental and epileptic encephalopathy 105 with hypopituitarism"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070391"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070391",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070391",
            "categories": []
        },
        {
            "id": "MONDO:0031028",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031028",
            "categories": []
        },
        {
            "id": "MIM:619983",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619983",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8R1F6-1",
            "uniprot_ac": "Q8R1F6",
            "uniprot_id": "HID1_MOUSE",
            "refseq_ac": "NP_780663",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein HID1",
                    "type": "recommended"
                },
                {
                    "name": "HID1 domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein hid-1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "UPF0663 transmembrane protein C17orf28 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein HID1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein HID1",
                    "type": "synonym"
                },
                {
                    "name": "protein hid-1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hid1",
                    "type": "recommended"
                },
                {
                    "name": "C630004H02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Hid1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R1F6-1",
            "evidence": [
                {
                    "id": "0070391",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070391"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IV36-1",
            "uniprot_ac": "Q8IV36",
            "uniprot_id": "HID1_HUMAN",
            "refseq_ac": "NP_085133",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein HID1",
                    "type": "recommended"
                },
                {
                    "name": "Down-regulated in multiple cancers 1",
                    "type": "synonym"
                },
                {
                    "name": "HID1 domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein hid-1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "UPF0663 transmembrane protein C17orf28",
                    "type": "synonym"
                },
                {
                    "name": "down-regulated in multiple cancers 1",
                    "type": "synonym"
                },
                {
                    "name": "downregulated in multiple cancer 1",
                    "type": "synonym"
                },
                {
                    "name": "protein HID1",
                    "type": "synonym"
                },
                {
                    "name": "protein hid-1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HID1",
                    "type": "recommended"
                },
                {
                    "name": "17orf28",
                    "type": "synonym"
                },
                {
                    "name": "C17orf28",
                    "type": "synonym"
                },
                {
                    "name": "DEE105",
                    "type": "synonym"
                },
                {
                    "name": "DMC1",
                    "type": "synonym"
                },
                {
                    "name": "HID-1",
                    "type": "synonym"
                },
                {
                    "name": "HID1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IV36-1",
            "evidence": [
                {
                    "id": "619983",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619983"
                },
                {
                    "id": "0070391",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070391"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06673-1",
            "uniprot_ac": "Q06673",
            "uniprot_id": "HID1_YEAST",
            "refseq_ac": "NP_013540",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein ECM30",
                    "type": "recommended"
                },
                {
                    "name": "Ecm30p",
                    "type": "synonym"
                },
                {
                    "name": "Extracellular mutant protein 30",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ECM30",
                    "type": "recommended"
                },
                {
                    "name": "ECM30",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06673-1",
            "evidence": [
                {
                    "id": "0070391",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070391"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A0C3-1",
            "uniprot_ac": "D4A0C3",
            "uniprot_id": "HID1_RAT",
            "refseq_ac": "XP_006247836",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein HID1",
                    "type": "recommended"
                },
                {
                    "name": "protein HID1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hid1",
                    "type": "recommended"
                },
                {
                    "name": "Hid1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1311422",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A0C3-1",
            "evidence": [
                {
                    "id": "0070391",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070391"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0E9B5-1",
            "uniprot_ac": "Q0E9B5",
            "uniprot_id": "Q0E9B5_DROME",
            "refseq_ac": "NP_610760",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein HID1",
                    "type": "recommended"
                },
                {
                    "name": "CG8841-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmc1",
                    "type": "recommended"
                },
                {
                    "name": "CG8841",
                    "type": "synonym"
                },
                {
                    "name": "Dmc1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8841",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8841",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0E9B5-1",
            "evidence": [
                {
                    "id": "0070391",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070391"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070391"
}