{
    "disease_id": "DOID:0070137",
    "recommended_name": {
        "id": "DOID:0070137",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070137",
        "name": "autosomal recessive cutis laxa type IIB",
        "description": "A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070137",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070137",
            "name": "ARCL2, progeroid type",
            "description": ""
        },
        {
            "id": "DOID:0070137",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070137",
            "name": "ARCL2B",
            "description": ""
        },
        {
            "id": "MONDO:0013051",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013051",
            "name": "autosomal recessive cutis laxa type 2B",
            "description": "Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported."
        },
        {
            "id": "MONDO:0013051",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013051",
            "name": "ARCL2, progeroid type",
            "description": ""
        },
        {
            "id": "MONDO:0013051",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013051",
            "name": "ARCL2B",
            "description": ""
        },
        {
            "id": "MONDO:0013051",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013051",
            "name": "PYCR1 autosomal recessive cutis laxa type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013051",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013051",
            "name": "autosomal recessive cutis laxa type 2 caused by mutation in PYCR1",
            "description": ""
        },
        {
            "id": "MONDO:0013051",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013051",
            "name": "autosomal recessive cutis laxa type 2, progeroid type",
            "description": ""
        },
        {
            "id": "MONDO:0013051",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013051",
            "name": "autosomal recessive cutis laxa type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0013051",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013051",
            "name": "cutis laxa, autosomal recessive type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0013051",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013051",
            "name": "cutis laxa, autosomal recessive, type IIB",
            "description": ""
        },
        {
            "id": "MIM:612940",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612940",
            "name": "Cutis laxa, autosomal recessive, 2B",
            "description": "Cutis laxa, autosomal recessive, 2B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070137"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070137",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070137",
            "categories": []
        },
        {
            "id": "MONDO:0013051",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013051",
            "categories": []
        },
        {
            "id": "MIM:612940",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612940",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1RDD0-1",
            "uniprot_ac": "F1RDD0",
            "uniprot_id": "F1RDD0_DANRE",
            "refseq_ac": "NP_001307354",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pyrroline-5-carboxylate reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.5.1.2",
                    "type": "synonym"
                },
                {
                    "name": "pycr2",
                    "type": "synonym"
                },
                {
                    "name": "pyrroline-5-carboxylate reductase 1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pycr1b",
                    "type": "recommended"
                },
                {
                    "name": "pycr1b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110655",
                    "type": "synonym"
                }
            ],
            "record_id": "F1RDD0-1",
            "evidence": [
                {
                    "id": "0070137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q922W5-1",
            "uniprot_ac": "Q922W5",
            "uniprot_id": "P5CR1_MOUSE",
            "refseq_ac": "NP_001335151",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pyrroline-5-carboxylate reductase 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.5.1.2",
                    "type": "synonym"
                },
                {
                    "name": "P5C reductase 1",
                    "type": "synonym"
                },
                {
                    "name": "P5CR 1",
                    "type": "synonym"
                },
                {
                    "name": "pyrroline-5-carboxylate reductase 1, mitochondrial isoform b",
                    "type": "synonym"
                },
                {
                    "name": "pyrroline-5-carboxylate reductase 1, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pycr1",
                    "type": "recommended"
                },
                {
                    "name": "P5CR 1",
                    "type": "synonym"
                },
                {
                    "name": "P5CR1",
                    "type": "synonym"
                },
                {
                    "name": "Pycr1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q922W5-1",
            "evidence": [
                {
                    "id": "0070137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q922Q4-1",
            "uniprot_ac": "Q922Q4",
            "uniprot_id": "P5CR2_MOUSE",
            "refseq_ac": "NP_598466",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pyrroline-5-carboxylate reductase 2",
                    "type": "recommended"
                },
                {
                    "name": "1.5.1.2",
                    "type": "synonym"
                },
                {
                    "name": "P5C reductase 2",
                    "type": "synonym"
                },
                {
                    "name": "P5CR 2",
                    "type": "synonym"
                },
                {
                    "name": "pyrroline-5-carboxylate reductase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pycr2",
                    "type": "recommended"
                },
                {
                    "name": "1810018M05Rik",
                    "type": "synonym"
                },
                {
                    "name": "P5cr2",
                    "type": "synonym"
                },
                {
                    "name": "Pycr2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q922Q4-1",
            "evidence": [
                {
                    "id": "0070137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32322-1",
            "uniprot_ac": "P32322",
            "uniprot_id": "P5CR1_HUMAN",
            "refseq_ac": "NP_001269209",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pyrroline-5-carboxylate reductase 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.5.1.2",
                    "type": "synonym"
                },
                {
                    "name": "P5C reductase 1",
                    "type": "synonym"
                },
                {
                    "name": "P5CR 1",
                    "type": "synonym"
                },
                {
                    "name": "proliferation-inducing protein 45",
                    "type": "synonym"
                },
                {
                    "name": "pyrroline-5-carboxylate reductase 1, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "pyrroline-5-carboxylate reductase 1, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PYCR1",
                    "type": "recommended"
                },
                {
                    "name": "ARCL2B",
                    "type": "synonym"
                },
                {
                    "name": "ARCL3B",
                    "type": "synonym"
                },
                {
                    "name": "P5CR",
                    "type": "synonym"
                },
                {
                    "name": "P5C",
                    "type": "synonym"
                },
                {
                    "name": "PIG45",
                    "type": "synonym"
                },
                {
                    "name": "PP222",
                    "type": "synonym"
                },
                {
                    "name": "PRO3",
                    "type": "synonym"
                },
                {
                    "name": "PYCR1",
                    "type": "synonym"
                },
                {
                    "name": "PYCR",
                    "type": "synonym"
                }
            ],
            "record_id": "P32322-1",
            "evidence": [
                {
                    "id": "612940",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612940"
                },
                {
                    "id": "0070137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32263-1",
            "uniprot_ac": "P32263",
            "uniprot_id": "P5CR_YEAST",
            "refseq_ac": "NP_010940",
            "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": "Pyrroline-5-carboxylate reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.5.1.2",
                    "type": "synonym"
                },
                {
                    "name": "P5C reductase",
                    "type": "synonym"
                },
                {
                    "name": "P5CR",
                    "type": "synonym"
                },
                {
                    "name": "pyrroline-5-carboxylate reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRO3",
                    "type": "recommended"
                },
                {
                    "name": "ORE2",
                    "type": "synonym"
                },
                {
                    "name": "PRO3",
                    "type": "synonym"
                }
            ],
            "record_id": "P32263-1",
            "evidence": [
                {
                    "id": "0070137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LMJ1-1",
            "uniprot_ac": "A0ABK0LMJ1",
            "uniprot_id": "A0ABK0LMJ1_RAT",
            "refseq_ac": "XP_008766695",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pyrroline-5-carboxylate reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.5.1.2",
                    "type": "synonym"
                },
                {
                    "name": "pyrroline-5-carboxylate reductase 1, mitochondrial isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pycr1",
                    "type": "recommended"
                },
                {
                    "name": "Pycr1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LMJ1-1",
            "evidence": [
                {
                    "id": "0070137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AY23-1",
            "uniprot_ac": "Q6AY23",
            "uniprot_id": "P5CR2_RAT",
            "refseq_ac": "NP_001012208",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pyrroline-5-carboxylate reductase 2",
                    "type": "recommended"
                },
                {
                    "name": "1.5.1.2",
                    "type": "synonym"
                },
                {
                    "name": "P5C reductase 2",
                    "type": "synonym"
                },
                {
                    "name": "P5CR 2",
                    "type": "synonym"
                },
                {
                    "name": "pyrroline-5-carboxylate reductase 2",
                    "type": "synonym"
                },
                {
                    "name": "pyrroline-5-carboxylate reductase family, member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pycr2",
                    "type": "recommended"
                },
                {
                    "name": "Pycr2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AY23-1",
            "evidence": [
                {
                    "id": "0070137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VEJ3-1",
            "uniprot_ac": "Q9VEJ3",
            "uniprot_id": "Q9VEJ3_DROME",
            "refseq_ac": "NP_650632",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pyrroline-5-carboxylate reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.5.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CG5840-PA",
                    "type": "synonym"
                },
                {
                    "name": "P5cr-2-PA",
                    "type": "synonym"
                },
                {
                    "name": "Pyrroline-5-carboxylate reductase-like 2, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Pyrroline-5-carboxylate reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "P5cr-2",
                    "type": "recommended"
                },
                {
                    "name": "CG5840",
                    "type": "synonym"
                },
                {
                    "name": "CT18319",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5840",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5840",
                    "type": "synonym"
                },
                {
                    "name": "P5cr-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VEJ3-1",
            "evidence": [
                {
                    "id": "0070137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96C36-1",
            "uniprot_ac": "Q96C36",
            "uniprot_id": "P5CR2_HUMAN",
            "refseq_ac": "NP_001258610",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pyrroline-5-carboxylate reductase 2",
                    "type": "recommended"
                },
                {
                    "name": "1.5.1.2",
                    "type": "synonym"
                },
                {
                    "name": "P5C reductase 2",
                    "type": "synonym"
                },
                {
                    "name": "P5CR 2",
                    "type": "synonym"
                },
                {
                    "name": "pyrroline-5-carboxylate reductase 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "pyrroline-5-carboxylate reductase family member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PYCR2",
                    "type": "recommended"
                },
                {
                    "name": "HLD10",
                    "type": "synonym"
                },
                {
                    "name": "P5CR2",
                    "type": "synonym"
                },
                {
                    "name": "PYCR2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96C36-1",
            "evidence": [
                {
                    "id": "0070137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070137"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070137"
}