{
    "disease_id": "DOID:0111540",
    "recommended_name": {
        "id": "DOID:0111540",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111540",
        "name": "prolidase deficiency",
        "description": "An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111540",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111540",
            "name": "hyperimidodipeptiduria",
            "description": ""
        },
        {
            "id": "DOID:0111540",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111540",
            "name": "imidodipeptidase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111540",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111540",
            "name": "peptidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008221",
            "name": "prolidase deficiency",
            "description": "An inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly."
        },
        {
            "id": "MONDO:0008221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008221",
            "name": "hyperimidodipeptiduria",
            "description": ""
        },
        {
            "id": "MONDO:0008221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008221",
            "name": "prolidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008221",
            "name": "Imidodipeptidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008221",
            "name": "Peptidase deficiency",
            "description": ""
        },
        {
            "id": "MIM:170100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/170100",
            "name": "Prolidase deficiency",
            "description": "Prolidase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111540"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111540",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111540",
            "categories": []
        },
        {
            "id": "MONDO:0008221",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008221",
            "categories": []
        },
        {
            "id": "MIM:170100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/170100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q11136-1",
            "uniprot_ac": "Q11136",
            "uniprot_id": "PEPD_MOUSE",
            "refseq_ac": "NP_032846",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Xaa-Pro dipeptidase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.13.9",
                    "type": "synonym"
                },
                {
                    "name": "Imidodipeptidase",
                    "type": "synonym"
                },
                {
                    "name": "Peptidase 4",
                    "type": "synonym"
                },
                {
                    "name": "Peptidase D",
                    "type": "synonym"
                },
                {
                    "name": "Prolidase",
                    "type": "synonym"
                },
                {
                    "name": "Proline dipeptidase",
                    "type": "synonym"
                },
                {
                    "name": "X-Pro dipeptidase",
                    "type": "synonym"
                },
                {
                    "name": "X-pro dipeptidase",
                    "type": "synonym"
                },
                {
                    "name": "imidodipeptidase",
                    "type": "synonym"
                },
                {
                    "name": "peptidase 4",
                    "type": "synonym"
                },
                {
                    "name": "prolidase",
                    "type": "synonym"
                },
                {
                    "name": "proline dipeptidase",
                    "type": "synonym"
                },
                {
                    "name": "xaa-Pro dipeptidase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "xaa-Pro dipeptidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pepd",
                    "type": "recommended"
                },
                {
                    "name": "Pep-4",
                    "type": "synonym"
                },
                {
                    "name": "Pep4",
                    "type": "synonym"
                },
                {
                    "name": "Pepd",
                    "type": "synonym"
                },
                {
                    "name": "dal",
                    "type": "synonym"
                }
            ],
            "record_id": "Q11136-1",
            "evidence": [
                {
                    "id": "0111540",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111540"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12955-1",
            "uniprot_ac": "P12955",
            "uniprot_id": "PEPD_HUMAN",
            "refseq_ac": "NP_000276",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Xaa-Pro dipeptidase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.13.9",
                    "type": "synonym"
                },
                {
                    "name": "Imidodipeptidase",
                    "type": "synonym"
                },
                {
                    "name": "Peptidase D",
                    "type": "synonym"
                },
                {
                    "name": "Prolidase",
                    "type": "synonym"
                },
                {
                    "name": "Proline dipeptidase",
                    "type": "synonym"
                },
                {
                    "name": "X-Pro dipeptidase",
                    "type": "synonym"
                },
                {
                    "name": "aminoacyl-L-proline hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "imidodipeptidase",
                    "type": "synonym"
                },
                {
                    "name": "proline dipeptidase",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 138",
                    "type": "synonym"
                },
                {
                    "name": "xaa-Pro dipeptidase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "xaa-Pro dipeptidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEPD",
                    "type": "recommended"
                },
                {
                    "name": "PEPD",
                    "type": "synonym"
                },
                {
                    "name": "PRD",
                    "type": "synonym"
                },
                {
                    "name": "PROLIDASE",
                    "type": "synonym"
                }
            ],
            "record_id": "P12955-1",
            "evidence": [
                {
                    "id": "170100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/170100"
                },
                {
                    "id": "0111540",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111540"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43590-1",
            "uniprot_ac": "P43590",
            "uniprot_id": "YFH6_YEAST",
            "refseq_ac": "NP_116661",
            "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": "Uncharacterized peptidase YFR006W",
                    "type": "recommended"
                },
                {
                    "name": "3.4.-.-",
                    "type": "synonym"
                },
                {
                    "name": "putative Xaa-Pro dipeptidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [],
            "record_id": "P43590-1",
            "evidence": [
                {
                    "id": "0111540",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111540"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5I0D7-1",
            "uniprot_ac": "Q5I0D7",
            "uniprot_id": "PEPD_RAT",
            "refseq_ac": "NP_001009641",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Xaa-Pro dipeptidase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.13.9",
                    "type": "synonym"
                },
                {
                    "name": "Imidodipeptidase",
                    "type": "synonym"
                },
                {
                    "name": "Peptidase D",
                    "type": "synonym"
                },
                {
                    "name": "Prolidase",
                    "type": "synonym"
                },
                {
                    "name": "Proline dipeptidase",
                    "type": "synonym"
                },
                {
                    "name": "X-Pro dipeptidase",
                    "type": "synonym"
                },
                {
                    "name": "imidodipeptidase",
                    "type": "synonym"
                },
                {
                    "name": "prolidase",
                    "type": "synonym"
                },
                {
                    "name": "proline dipeptidase",
                    "type": "synonym"
                },
                {
                    "name": "xaa-Pro dipeptidase-like",
                    "type": "synonym"
                },
                {
                    "name": "xaa-Pro dipeptidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pepd",
                    "type": "recommended"
                },
                {
                    "name": "AABR07002969.1",
                    "type": "synonym"
                },
                {
                    "name": "Pepd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5I0D7-1",
            "evidence": [
                {
                    "id": "0111540",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111540"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VG79-1",
            "uniprot_ac": "Q9VG79",
            "uniprot_id": "Q9VG79_DROME",
            "refseq_ac": "NP_001287306",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Xaa-Pro dipeptidase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.13.9",
                    "type": "synonym"
                },
                {
                    "name": "CG5663-PB",
                    "type": "synonym"
                },
                {
                    "name": "Dip-C-PB",
                    "type": "synonym"
                },
                {
                    "name": "Imidodipeptidase",
                    "type": "synonym"
                },
                {
                    "name": "Peptidase D",
                    "type": "synonym"
                },
                {
                    "name": "Proline dipeptidase",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidase C, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dip-C",
                    "type": "recommended"
                },
                {
                    "name": "CG5663",
                    "type": "synonym"
                },
                {
                    "name": "Dip-C",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5663",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5663",
                    "type": "synonym"
                },
                {
                    "name": "dipC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VG79-1",
            "evidence": [
                {
                    "id": "0111540",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111540"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111540"
}