{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014466", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014466", 
            "name": "NEU-Laxova syndrome 2; NLS2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014466", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014466", 
            "name": "PSAT1 Neu-Laxova syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014466", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014466", 
            "name": "NLS2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014466", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014466", 
            "name": "Neu-Laxova syndrome type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014466", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014466", 
            "name": "Neu-Laxova syndrome caused by mutation in PSAT1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080075", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080075", 
        "name": "Neu-Laxova syndrome 2"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/616038", 
            "id": "616038", 
            "database": "MIM"
        }
    ]
}