{
    "disease_id": "DOID:0080076", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009736", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009736", 
            "name": "NLS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009736", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009736", 
            "name": "3-Phosphoglycerate dehydrogenase deficiency, neonatal form"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009736", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009736", 
            "name": "PHGDH Neu-Laxova syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009736", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009736", 
            "name": "Neu-Laxova syndrome type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009736", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009736", 
            "name": "Neu-Laxova syndrome caused by mutation in PHGDH"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009736", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009736", 
            "name": "Neu-Laxova syndrome 1; NLS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009736", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009736", 
            "name": "Neu-Laxova syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080076", 
        "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 PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080076", 
        "name": "Neu-Laxova syndrome 1"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080076#disease-associations", 
            "id": "0080076", 
            "database": "Alliance of Genome Resources"
        }
    ]
}