{
    "disease_id": "DOID:0070138",
    "recommended_name": {
        "id": "DOID:0070138",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070138",
        "name": "autosomal recessive cutis laxa type IIIB",
        "description": "An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25."
    },
    "synonyms": [
        {
            "id": "DOID:0070138",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070138",
            "name": "ARCL3B",
            "description": ""
        },
        {
            "id": "DOID:0070138",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070138",
            "name": "De Barsy syndrome B",
            "description": ""
        },
        {
            "id": "MONDO:0013755",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013755",
            "name": "PYCR1-related de Barsy syndrome",
            "description": "Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene."
        },
        {
            "id": "MONDO:0013755",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013755",
            "name": "cutis laxa, autosomal recessive, type IIIB; ARCL3B",
            "description": ""
        },
        {
            "id": "MONDO:0013755",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013755",
            "name": "ARCL3B",
            "description": ""
        },
        {
            "id": "MONDO:0013755",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013755",
            "name": "pyrroline-5-carboxylate reductase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013755",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013755",
            "name": "cutis laxa, autosomal recessive, type IIIB",
            "description": ""
        },
        {
            "id": "MONDO:0013755",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013755",
            "name": "PYCR1 de Barsy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013755",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013755",
            "name": "cutis laxa, autosomal recessive, type 3B",
            "description": ""
        },
        {
            "id": "MONDO:0013755",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013755",
            "name": "de Barsy syndrome caused by mutation in PYCR1",
            "description": ""
        },
        {
            "id": "MONDO:0013755",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013755",
            "name": "autosomal recessive cutis laxa type IIIB",
            "description": ""
        },
        {
            "id": "MONDO:0013755",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013755",
            "name": "De Barsy syndrome B",
            "description": ""
        },
        {
            "id": "MONDO:0013755",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013755",
            "name": "PYCR1 deficiency",
            "description": ""
        },
        {
            "id": "MIM:614438",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614438",
            "name": "Cutis laxa, autosomal recessive, 3B",
            "description": "Cutis laxa, autosomal recessive, 3B"
        }
    ]
}