{
    "disease_id": "DOID:0070744",
    "recommended_name": {
        "id": "DOID:0070744",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070744",
        "name": "early childhood-onset progressive leukodystrophy",
        "description": "A leukodystrophy characterized by infantile onset of stagnation and regression of motor and language development progressing to complete lack of communication and purposeful movement that has_material_basis_in homozygous mutation in the ACER3 gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070744",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070744",
            "name": "PLDECO",
            "description": ""
        },
        {
            "id": "DOID:0070744",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070744",
            "name": "alkaline ceramidase 3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0044718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044718",
            "name": "alkaline ceramidase 3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0044718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044718",
            "name": "ACER3-related early childhood-onset progressive leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0044718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044718",
            "name": "leukodystrophy due to alkaline ceramidase 3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0044718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044718",
            "name": "PLDECO",
            "description": ""
        },
        {
            "id": "MIM:617762",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617762",
            "name": "Leukodystrophy, progressive, early childhood-onset",
            "description": "Leukodystrophy, progressive, early childhood-onset"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070744"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070744",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070744",
            "categories": []
        },
        {
            "id": "MONDO:0044718",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044718",
            "categories": []
        },
        {
            "id": "MIM:617762",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617762",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9NUN7-1",
            "uniprot_ac": "Q9NUN7",
            "uniprot_id": "ACER3_HUMAN",
            "refseq_ac": "NP_060837",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alkaline ceramidase 3",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.5.1.23",
                    "type": "synonym"
                },
                {
                    "name": "AlkCDase 3",
                    "type": "synonym"
                },
                {
                    "name": "Alkaline CDase 3",
                    "type": "synonym"
                },
                {
                    "name": "Alkaline dihydroceramidase SB89",
                    "type": "synonym"
                },
                {
                    "name": "Alkaline phytoceramidase",
                    "type": "synonym"
                },
                {
                    "name": "aPHC",
                    "type": "synonym"
                },
                {
                    "name": "alkCDase 3",
                    "type": "synonym"
                },
                {
                    "name": "alkaline CDase 3",
                    "type": "synonym"
                },
                {
                    "name": "alkaline ceramidase 3 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "alkaline dihydroceramidase SB89",
                    "type": "synonym"
                },
                {
                    "name": "alkaline phytoceramidase",
                    "type": "synonym"
                },
                {
                    "name": "phytoceramidase, alkaline",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACER3",
                    "type": "recommended"
                },
                {
                    "name": "ACER3",
                    "type": "synonym"
                },
                {
                    "name": "APHC",
                    "type": "synonym"
                },
                {
                    "name": "PHCA",
                    "type": "synonym"
                },
                {
                    "name": "PLDECO",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NUN7-1",
            "evidence": [
                {
                    "id": "617762",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617762"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070744"
}