{
    "disease_id": "DOID:0080076",
    "recommended_name": {
        "id": "DOID:0080076",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080076",
        "name": "Neu-Laxova syndrome 1",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0009736",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009736",
            "name": "Neu-Laxova syndrome 1",
            "description": "Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene."
        },
        {
            "id": "MONDO:0009736",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009736",
            "name": "3-Phosphoglycerate dehydrogenase deficiency, neonatal form",
            "description": ""
        },
        {
            "id": "MONDO:0009736",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009736",
            "name": "3-phosphoglycerate dehydrogenase deficiency, prenatal form",
            "description": ""
        },
        {
            "id": "MONDO:0009736",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009736",
            "name": "Neu-Laxova syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0009736",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009736",
            "name": "Neu-Laxova syndrome caused by mutation in PHGDH",
            "description": ""
        },
        {
            "id": "MONDO:0009736",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009736",
            "name": "Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009736",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009736",
            "name": "Neu-Laxova syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009736",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009736",
            "name": "PHGDH Neu-Laxova syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009736",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009736",
            "name": "NLS1",
            "description": ""
        },
        {
            "id": "MIM:256520",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/256520",
            "name": "Neu-Laxova syndrome 1",
            "description": "Neu-Laxova syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080076"
    ],
    "unlinked_id_list": []
}