{
    "disease_id": "DOID:0080543",
    "recommended_name": {
        "id": "DOID:0080543",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080543",
        "name": "hyperprolinemia type 2",
        "description": "A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0080543",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080543",
            "name": "hyperprolinemia type II",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "hyperprolinemia type 2",
            "description": "Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay."
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "1-pyrroline-5-carboxylate dehydrogenase activity disease",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "ALDH4A1 hyperprolinemia",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "delta-1-pyrroline-5-carboxylate dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "delta1-pyrroline-5-carboxylate dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "disorder of 1-pyrroline-5-carboxylate dehydrogenase activity",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "hyperprolinemia caused by mutation in ALDH4A1",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "hyperprolinemia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "1 alpha pyrroline-5-carboxylate dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "HPII",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "HYRPRO2",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "hyperprolinemia, type II",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "type 2 hyperprolinemia",
            "description": ""
        },
        {
            "id": "MIM:239510",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/239510",
            "name": "Hyperprolinemia 2",
            "description": "Hyperprolinemia 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080543"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080543",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080543",
            "categories": []
        },
        {
            "id": "MONDO:0009401",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "categories": []
        },
        {
            "id": "MIM:239510",
            "database": "MIM",
            "url": "https://www.omim.org/entry/239510",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7SY23-1",
            "uniprot_ac": "Q7SY23",
            "uniprot_id": "AL4A1_DANRE",
            "refseq_ac": "NP_957452",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.88",
                    "type": "synonym"
                },
                {
                    "name": "Aldehyde dehydrogenase family 4 member A1",
                    "type": "synonym"
                },
                {
                    "name": "L-glutamate gamma-semialdehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "P5C dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde dehydrogenase 4A1",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde dehydrogenase family 4 member A1",
                    "type": "synonym"
                },
                {
                    "name": "delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "aldh4a1",
                    "type": "recommended"
                },
                {
                    "name": "aldh4a1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63592",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7SY23-1",
            "evidence": [
                {
                    "id": "0080543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080543"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CHT0-1",
            "uniprot_ac": "Q8CHT0",
            "uniprot_id": "AL4A1_MOUSE",
            "refseq_ac": "NP_780647",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.88",
                    "type": "synonym"
                },
                {
                    "name": "Aldehyde dehydrogenase family 4 member A1",
                    "type": "synonym"
                },
                {
                    "name": "L-glutamate gamma-semialdehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "P5C dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde dehydrogenase family 4 member A1",
                    "type": "synonym"
                },
                {
                    "name": "delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aldh4a1",
                    "type": "recommended"
                },
                {
                    "name": "A930035F14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ahd-1",
                    "type": "synonym"
                },
                {
                    "name": "Ahd1",
                    "type": "synonym"
                },
                {
                    "name": "Aldh4a1",
                    "type": "synonym"
                },
                {
                    "name": "Aldh4",
                    "type": "synonym"
                },
                {
                    "name": "Aldh5a1",
                    "type": "synonym"
                },
                {
                    "name": "E330022C09",
                    "type": "synonym"
                },
                {
                    "name": "P5cdhl",
                    "type": "synonym"
                },
                {
                    "name": "P5cdhs",
                    "type": "synonym"
                },
                {
                    "name": "P5cdh",
                    "type": "synonym"
                },
                {
                    "name": "P5cd",
                    "type": "synonym"
                },
                {
                    "name": "Ssdh1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CHT0-1",
            "evidence": [
                {
                    "id": "0080543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080543"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30038-1",
            "uniprot_ac": "P30038",
            "uniprot_id": "AL4A1_HUMAN",
            "refseq_ac": "NP_001154976",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.88",
                    "type": "synonym"
                },
                {
                    "name": "Aldehyde dehydrogenase family 4 member A1",
                    "type": "synonym"
                },
                {
                    "name": "L-glutamate gamma-semialdehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "P5C dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde dehydrogenase family 4 member A1",
                    "type": "synonym"
                },
                {
                    "name": "delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform b",
                    "type": "synonym"
                },
                {
                    "name": "delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALDH4A1",
                    "type": "recommended"
                },
                {
                    "name": "ALDH4A1",
                    "type": "synonym"
                },
                {
                    "name": "ALDH4",
                    "type": "synonym"
                },
                {
                    "name": "P5CDH",
                    "type": "synonym"
                },
                {
                    "name": "P5CDh",
                    "type": "synonym"
                },
                {
                    "name": "P5CD",
                    "type": "synonym"
                }
            ],
            "record_id": "P30038-1",
            "evidence": [
                {
                    "id": "239510",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/239510"
                },
                {
                    "id": "0080543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080543"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07275-1",
            "uniprot_ac": "P07275",
            "uniprot_id": "PUT2_YEAST",
            "refseq_ac": "NP_011902",
            "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": "Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1-pyrroline-5-carboxylate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "1.2.1.88",
                    "type": "synonym"
                },
                {
                    "name": "L-glutamate gamma-semialdehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "P5C dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PUT2",
                    "type": "recommended"
                },
                {
                    "name": "PUT2",
                    "type": "synonym"
                }
            ],
            "record_id": "P07275-1",
            "evidence": [
                {
                    "id": "0080543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080543"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LED7-1",
            "uniprot_ac": "A0ABK0LED7",
            "uniprot_id": "A0ABK0LED7_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multifunctional fusion protein",
                    "type": "recommended"
                },
                {
                    "name": "L-glutamate gamma-semialdehyde dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aldh4a1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LED7-1",
            "evidence": [
                {
                    "id": "0080543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080543"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VNX4-1",
            "uniprot_ac": "Q9VNX4",
            "uniprot_id": "Q9VNX4_DROME",
            "refseq_ac": "NP_001189159",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multifunctional fusion protein",
                    "type": "recommended"
                },
                {
                    "name": "CG7145-PE",
                    "type": "synonym"
                },
                {
                    "name": "L-glutamate gamma-semialdehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "P5CDh1-PE",
                    "type": "synonym"
                },
                {
                    "name": "delta-1-Pyrroline-5-carboxylate dehydrogenase 1, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "delta-1-pyrroline-5-carboxylate dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "P5CDh1",
                    "type": "recommended"
                },
                {
                    "name": "CG7145",
                    "type": "synonym"
                },
                {
                    "name": "DmP5CDh1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7145",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7145",
                    "type": "synonym"
                },
                {
                    "name": "P5CDh1",
                    "type": "synonym"
                },
                {
                    "name": "P5CDh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VNX4-1",
            "evidence": [
                {
                    "id": "0080543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080543"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080543"
}