{
    "disease_id": "DOID:0111698",
    "recommended_name": {
        "id": "DOID:0111698",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111698",
        "name": "proprotein convertase 1/3 deficiency",
        "description": "A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chromosome 5q15."
    },
    "synonyms": [
        {
            "id": "DOID:0111698",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111698",
            "name": "obesity and endocrinopathy due to impaired processing of prohormones",
            "description": ""
        },
        {
            "id": "DOID:0111698",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111698",
            "name": "PCI deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111698",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111698",
            "name": "obesity due to prohormone convertase I deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111698",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111698",
            "name": "obesity with impaired prohormone processing",
            "description": ""
        },
        {
            "id": "MONDO:0010961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010961",
            "name": "obesity due to prohormone convertase I deficiency",
            "description": "Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterized by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones."
        },
        {
            "id": "MONDO:0010961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010961",
            "name": "PCI deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010961",
            "name": "PCSK1 Deficiency",
            "description": ""
        },
        {
            "id": "MIM:600955",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600955",
            "name": "Proprotein convertase 1 deficiency",
            "description": "Proprotein convertase 1 deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111698"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111698",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111698",
            "categories": []
        },
        {
            "id": "MONDO:0010961",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010961",
            "categories": []
        },
        {
            "id": "MIM:600955",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600955",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P63239-1",
            "uniprot_ac": "P63239",
            "uniprot_id": "NEC1_MOUSE",
            "refseq_ac": "NP_038656",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neuroendocrine convertase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.93",
                    "type": "synonym"
                },
                {
                    "name": "Furin homolog",
                    "type": "synonym"
                },
                {
                    "name": "NEC 1",
                    "type": "synonym"
                },
                {
                    "name": "PC1",
                    "type": "synonym"
                },
                {
                    "name": "PC3",
                    "type": "synonym"
                },
                {
                    "name": "Prohormone convertase 1",
                    "type": "synonym"
                },
                {
                    "name": "Propeptide-processing protease",
                    "type": "synonym"
                },
                {
                    "name": "Proprotein convertase 1",
                    "type": "synonym"
                },
                {
                    "name": "furin homolog",
                    "type": "synonym"
                },
                {
                    "name": "neuroendocrine convertase 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "neuroendocrine convertase 1",
                    "type": "synonym"
                },
                {
                    "name": "prohormone convertase 1/3",
                    "type": "synonym"
                },
                {
                    "name": "prohormone convertase 1",
                    "type": "synonym"
                },
                {
                    "name": "propeptide-processing protease",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pcsk1",
                    "type": "recommended"
                },
                {
                    "name": "Att-1",
                    "type": "synonym"
                },
                {
                    "name": "Nec-1",
                    "type": "synonym"
                },
                {
                    "name": "Nec1",
                    "type": "synonym"
                },
                {
                    "name": "PC1",
                    "type": "synonym"
                },
                {
                    "name": "PC3",
                    "type": "synonym"
                },
                {
                    "name": "Pcsk1",
                    "type": "synonym"
                },
                {
                    "name": "Phpp-1",
                    "type": "synonym"
                },
                {
                    "name": "SPC3",
                    "type": "synonym"
                }
            ],
            "record_id": "P63239-1",
            "evidence": [
                {
                    "id": "0111698",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111698"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29120-1",
            "uniprot_ac": "P29120",
            "uniprot_id": "NEC1_HUMAN",
            "refseq_ac": "NP_000430",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neuroendocrine convertase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.93",
                    "type": "synonym"
                },
                {
                    "name": "NEC 1",
                    "type": "synonym"
                },
                {
                    "name": "PC1",
                    "type": "synonym"
                },
                {
                    "name": "Prohormone convertase 1",
                    "type": "synonym"
                },
                {
                    "name": "Proprotein convertase 1",
                    "type": "synonym"
                },
                {
                    "name": "neuroendocrine convertase 1 isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "neuroendocrine convertase 1",
                    "type": "synonym"
                },
                {
                    "name": "prohormone convertase 1",
                    "type": "synonym"
                },
                {
                    "name": "prohormone convertase 3",
                    "type": "synonym"
                },
                {
                    "name": "proprotein convertase 1/3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PCSK1",
                    "type": "recommended"
                },
                {
                    "name": "BMIQ12",
                    "type": "synonym"
                },
                {
                    "name": "NEC1",
                    "type": "synonym"
                },
                {
                    "name": "PC1/3",
                    "type": "synonym"
                },
                {
                    "name": "PC1",
                    "type": "synonym"
                },
                {
                    "name": "PC3",
                    "type": "synonym"
                },
                {
                    "name": "PCSK1",
                    "type": "synonym"
                },
                {
                    "name": "SPC3",
                    "type": "synonym"
                }
            ],
            "record_id": "P29120-1",
            "evidence": [
                {
                    "id": "600955",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600955"
                },
                {
                    "id": "0111698",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111698"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13134-1",
            "uniprot_ac": "P13134",
            "uniprot_id": "KEX2_YEAST",
            "refseq_ac": "NP_014161",
            "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": "Kexin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.61",
                    "type": "synonym"
                },
                {
                    "name": "Protease KEX2",
                    "type": "synonym"
                },
                {
                    "name": "Proteinase YSCF",
                    "type": "synonym"
                },
                {
                    "name": "kexin KEX2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KEX2",
                    "type": "recommended"
                },
                {
                    "name": "KEX2",
                    "type": "synonym"
                },
                {
                    "name": "N1122",
                    "type": "synonym"
                },
                {
                    "name": "QDS1",
                    "type": "synonym"
                },
                {
                    "name": "SRB1",
                    "type": "synonym"
                },
                {
                    "name": "VMA45",
                    "type": "synonym"
                }
            ],
            "record_id": "P13134-1",
            "evidence": [
                {
                    "id": "0111698",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111698"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28840-1",
            "uniprot_ac": "P28840",
            "uniprot_id": "NEC1_RAT",
            "refseq_ac": "NP_058787",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neuroendocrine convertase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.93",
                    "type": "synonym"
                },
                {
                    "name": "NEC 1",
                    "type": "synonym"
                },
                {
                    "name": "PC1",
                    "type": "synonym"
                },
                {
                    "name": "Prohormone convertase 1",
                    "type": "synonym"
                },
                {
                    "name": "Proprotein convertase 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein convertase subtilisin / kexin, type I",
                    "type": "synonym"
                },
                {
                    "name": "neuroendocrine convertase 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "neuroendocrine convertase 1",
                    "type": "synonym"
                },
                {
                    "name": "prohormone convertase 1",
                    "type": "synonym"
                },
                {
                    "name": "prohormone convertase 3",
                    "type": "synonym"
                },
                {
                    "name": "proprotein convertase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pcsk1",
                    "type": "recommended"
                },
                {
                    "name": "BDP",
                    "type": "synonym"
                },
                {
                    "name": "Bdp",
                    "type": "synonym"
                },
                {
                    "name": "Nec-1",
                    "type": "synonym"
                },
                {
                    "name": "Nec1",
                    "type": "synonym"
                },
                {
                    "name": "PC1",
                    "type": "synonym"
                },
                {
                    "name": "PC3",
                    "type": "synonym"
                },
                {
                    "name": "Pcsk1",
                    "type": "synonym"
                }
            ],
            "record_id": "P28840-1",
            "evidence": [
                {
                    "id": "0111698",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111698"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13347-1",
            "uniprot_ac": "Q13347",
            "uniprot_id": "EIF3I_HUMAN",
            "refseq_ac": "NP_003748",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eukaryotic translation initiation factor 3 subunit I",
                    "type": "recommended"
                },
                {
                    "name": "Eukaryotic translation initiation factor 3 subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta receptor-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TGFbeta receptor-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TRIP-1",
                    "type": "synonym"
                },
                {
                    "name": "eIF-3-beta",
                    "type": "synonym"
                },
                {
                    "name": "eIF3 p36",
                    "type": "synonym"
                },
                {
                    "name": "eIF3i",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 3 subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 3 subunit I isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 3, subunit 2 (beta, 36kD)",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa",
                    "type": "synonym"
                },
                {
                    "name": "predicted protein of HQ2242",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EIF3I",
                    "type": "recommended"
                },
                {
                    "name": "EIF3I",
                    "type": "synonym"
                },
                {
                    "name": "EIF3S2",
                    "type": "synonym"
                },
                {
                    "name": "PRO2242",
                    "type": "synonym"
                },
                {
                    "name": "TRIP-1",
                    "type": "synonym"
                },
                {
                    "name": "TRIP1",
                    "type": "synonym"
                },
                {
                    "name": "eIF3-beta",
                    "type": "synonym"
                },
                {
                    "name": "eIF3-p36",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13347-1",
            "evidence": [
                {
                    "id": "0111698",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111698"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111698"
}