{
    "disease_id": "DOID:0111667",
    "recommended_name": {
        "id": "DOID:0111667",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111667",
        "name": "enterokinase deficiency",
        "description": "An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the TMPRSS15 gene on chromosome 21q21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111667",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111667",
            "name": "congenital enterokinase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111667",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111667",
            "name": "deficiency of enteropeptidase",
            "description": ""
        },
        {
            "id": "DOID:0111667",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111667",
            "name": "congenital enteropathy due to enteropeptidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009173",
            "name": "congenital enteropathy due to enteropeptidase deficiency",
            "description": "A rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated."
        },
        {
            "id": "MONDO:0009173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009173",
            "name": "congenital enterokinase deficiency",
            "description": ""
        },
        {
            "id": "MIM:226200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/226200",
            "name": "Enterokinase deficiency",
            "description": "Enterokinase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111667"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111667",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111667",
            "categories": []
        },
        {
            "id": "MONDO:0009173",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009173",
            "categories": []
        },
        {
            "id": "MIM:226200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/226200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TAA8-1",
            "uniprot_ac": "A0AB32TAA8",
            "uniprot_id": "A0AB32TAA8_DANRE",
            "refseq_ac": "XP_068072228",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Enteropeptidase",
                    "type": "synonym"
                },
                {
                    "name": "enteropeptidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tmprss15",
                    "type": "recommended"
                },
                {
                    "name": "tmprss15",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TAA8-1",
            "evidence": [
                {
                    "id": "0111667",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111667"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97435-1",
            "uniprot_ac": "P97435",
            "uniprot_id": "ENTK_MOUSE",
            "refseq_ac": "NP_032967",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Enteropeptidase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.9",
                    "type": "synonym"
                },
                {
                    "name": "Enterokinase",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease 7",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protease serine 15",
                    "type": "synonym"
                },
                {
                    "name": "enteropeptidase isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "enteropeptidase",
                    "type": "synonym"
                },
                {
                    "name": "protease, serine, 7 (enterokinase)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmprss15",
                    "type": "recommended"
                },
                {
                    "name": "Entk",
                    "type": "synonym"
                },
                {
                    "name": "Prss7",
                    "type": "synonym"
                },
                {
                    "name": "Tmprss15",
                    "type": "synonym"
                }
            ],
            "record_id": "P97435-1",
            "evidence": [
                {
                    "id": "0111667",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111667"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P98073-1",
            "uniprot_ac": "P98073",
            "uniprot_id": "ENTK_HUMAN",
            "refseq_ac": "NP_001414986",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Enteropeptidase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.9",
                    "type": "synonym"
                },
                {
                    "name": "Enterokinase",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease 7",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protease serine 15",
                    "type": "synonym"
                },
                {
                    "name": "enterokinase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "enteropeptidase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "enteropeptidase",
                    "type": "synonym"
                },
                {
                    "name": "protease, serine, 7 (enterokinase)",
                    "type": "synonym"
                },
                {
                    "name": "serine protease 7",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protease, serine 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMPRSS15",
                    "type": "recommended"
                },
                {
                    "name": "ENTK",
                    "type": "synonym"
                },
                {
                    "name": "PRSS7",
                    "type": "synonym"
                },
                {
                    "name": "TMPRSS15",
                    "type": "synonym"
                }
            ],
            "record_id": "P98073-1",
            "evidence": [
                {
                    "id": "226200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/226200"
                },
                {
                    "id": "0111667",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111667"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LTS6-1",
            "uniprot_ac": "A0ABK0LTS6",
            "uniprot_id": "A0ABK0LTS6_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Enteropeptidase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.9",
                    "type": "synonym"
                },
                {
                    "name": "Enterokinase",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease 7",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protease serine 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmprss15",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LTS6-1",
            "evidence": [
                {
                    "id": "0111667",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111667"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z7M7-1",
            "uniprot_ac": "A1Z7M7",
            "uniprot_id": "A1Z7M7_DROME",
            "refseq_ac": "NP_610441",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidase S1 domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG8170-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SP54",
                    "type": "recommended"
                },
                {
                    "name": "CG8170",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8170",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8170",
                    "type": "synonym"
                },
                {
                    "name": "SP54",
                    "type": "synonym"
                },
                {
                    "name": "cSP54",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z7M7-1",
            "evidence": [
                {
                    "id": "0111667",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111667"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z7M5-1",
            "uniprot_ac": "A1Z7M5",
            "uniprot_id": "A1Z7M5_DROME",
            "refseq_ac": "NP_610439",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidase S1 domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG13744-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SP67",
                    "type": "recommended"
                },
                {
                    "name": "CG13744",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13744",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13744",
                    "type": "synonym"
                },
                {
                    "name": "SP67",
                    "type": "synonym"
                },
                {
                    "name": "c-SP67",
                    "type": "synonym"
                },
                {
                    "name": "cSP67",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z7M5-1",
            "evidence": [
                {
                    "id": "0111667",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111667"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05319-1",
            "uniprot_ac": "Q05319",
            "uniprot_id": "STUB_DROME",
            "refseq_ac": "NP_001287355",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine proteinase stubble",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "CG4316-PB",
                    "type": "synonym"
                },
                {
                    "name": "Protein stubble-stubbloid",
                    "type": "synonym"
                },
                {
                    "name": "Sb-PB",
                    "type": "synonym"
                },
                {
                    "name": "Stubble-stubbloid",
                    "type": "synonym"
                },
                {
                    "name": "stubble, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "stubbloid",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sb",
                    "type": "recommended"
                },
                {
                    "name": "CG4316",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4316",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4316",
                    "type": "synonym"
                },
                {
                    "name": "SP56",
                    "type": "synonym"
                },
                {
                    "name": "Sb-sbd",
                    "type": "synonym"
                },
                {
                    "name": "Sb",
                    "type": "synonym"
                },
                {
                    "name": "c-SP56",
                    "type": "synonym"
                },
                {
                    "name": "cSP56",
                    "type": "synonym"
                },
                {
                    "name": "sbd",
                    "type": "synonym"
                },
                {
                    "name": "st-sb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05319-1",
            "evidence": [
                {
                    "id": "0111667",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111667"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111667"
}