{
    "disease_id": "DOID:0080075",
    "recommended_name": {
        "id": "DOID:0080075",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080075",
        "name": "Neu-Laxova syndrome 2",
        "description": "A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine."
    },
    "synonyms": [
        {
            "id": "MONDO:0014466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014466",
            "name": "Neu-Laxova syndrome 2",
            "description": "Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene."
        },
        {
            "id": "MONDO:0014466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014466",
            "name": "NEU-Laxova syndrome 2; NLS2",
            "description": ""
        },
        {
            "id": "MONDO:0014466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014466",
            "name": "Neu-Laxova syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0014466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014466",
            "name": "PSAT1 Neu-Laxova syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014466",
            "name": "NLS2",
            "description": ""
        },
        {
            "id": "MONDO:0014466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014466",
            "name": "Neu-Laxova syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014466",
            "name": "Neu-Laxova syndrome caused by mutation in PSAT1",
            "description": ""
        },
        {
            "id": "MIM:616038",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616038",
            "name": "Neu-Laxova syndrome 2",
            "description": "Neu-Laxova syndrome 2"
        }
    ]
}