{
    "disease_id": "DOID:0070137",
    "recommended_name": {
        "id": "DOID:0070137",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0070137",
            "name": "ARCL2, progeroid type",
            "description": ""
        },
        {
            "id": "DOID:0070137",
            "resource": "Disease Ontology",
            "url": "http://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": "cutis laxa, autosomal recessive, type IIB; ARCL2B",
            "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": "autosomal recessive cutis laxa type IIB",
            "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": "cutis laxa with progeroid features",
            "description": ""
        },
        {
            "id": "MONDO:0013051",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013051",
            "name": "cutis laxa, autosomal recessive, type IIB",
            "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 2 caused by mutation in PYCR1",
            "description": ""
        },
        {
            "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": "cutis laxa, autosomal recessive type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0013051",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013051",
            "name": "ARCL2B",
            "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"
        }
    ]
}