{
    "disease_id": "DOID:0112153",
    "recommended_name": {
        "id": "DOID:0112153",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112153",
        "name": "hypomyelinating leukodystrophy 20",
        "description": "A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112153",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112153",
            "name": "HLD20",
            "description": ""
        },
        {
            "id": "MONDO:0033657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033657",
            "name": "leukodystrophy, hypomyelinating, 20",
            "description": ""
        },
        {
            "id": "MONDO:0033657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033657",
            "name": "HLD20",
            "description": ""
        },
        {
            "id": "MIM:619071",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619071",
            "name": "Leukodystrophy, hypomyelinating, 20",
            "description": "Leukodystrophy, hypomyelinating, 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112153"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112153",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112153",
            "categories": []
        },
        {
            "id": "MONDO:0033657",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033657",
            "categories": []
        },
        {
            "id": "MIM:619071",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619071",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3B0U8-1",
            "uniprot_ac": "A0A8M3B0U8",
            "uniprot_id": "A0A8M3B0U8_DANRE",
            "refseq_ac": "XP_009297613",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "2',3'-cyclic-nucleotide 3'-phosphodiesterase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cnp",
                    "type": "recommended"
                },
                {
                    "name": "cnp",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B0U8-1",
            "evidence": [
                {
                    "id": "0112153",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112153"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16330-1",
            "uniprot_ac": "P16330",
            "uniprot_id": "CN37_MOUSE",
            "refseq_ac": "NP_001139790",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "2',3'-cyclic-nucleotide 3'-phosphodiesterase",
                    "type": "recommended"
                },
                {
                    "name": "2',3'-cyclic-nucleotide 3'-phosphodiesterase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.37",
                    "type": "synonym"
                },
                {
                    "name": "CNPase",
                    "type": "synonym"
                },
                {
                    "name": "CNP",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide phosphodiesterase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cnp",
                    "type": "recommended"
                },
                {
                    "name": "CNPase",
                    "type": "synonym"
                },
                {
                    "name": "Cnp-1",
                    "type": "synonym"
                },
                {
                    "name": "Cnp1",
                    "type": "synonym"
                },
                {
                    "name": "Cnp",
                    "type": "synonym"
                }
            ],
            "record_id": "P16330-1",
            "evidence": [
                {
                    "id": "0112153",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112153"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09543-1",
            "uniprot_ac": "P09543",
            "uniprot_id": "CN37_HUMAN",
            "refseq_ac": "NP_001317145",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "2',3'-cyclic-nucleotide 3'-phosphodiesterase",
                    "type": "recommended"
                },
                {
                    "name": "2'',3''-cyclic nucleotide 3'' phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "2', 3' cyclic nucleotide 3' phosphohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "2',3'-cyclic-nucleotide 3'-phosphodiesterase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.37",
                    "type": "synonym"
                },
                {
                    "name": "CNPase",
                    "type": "synonym"
                },
                {
                    "name": "CNP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CNP",
                    "type": "recommended"
                },
                {
                    "name": "CN37",
                    "type": "synonym"
                },
                {
                    "name": "CNP1",
                    "type": "synonym"
                },
                {
                    "name": "CNP",
                    "type": "synonym"
                },
                {
                    "name": "HLD20",
                    "type": "synonym"
                }
            ],
            "record_id": "P09543-1",
            "evidence": [
                {
                    "id": "619071",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619071"
                },
                {
                    "id": "0112153",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112153"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13233-1",
            "uniprot_ac": "P13233",
            "uniprot_id": "CN37_RAT",
            "refseq_ac": "NP_036941",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "2',3'-cyclic-nucleotide 3'-phosphodiesterase",
                    "type": "recommended"
                },
                {
                    "name": "2',3'-cyclic-nucleotide 3'-phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.37",
                    "type": "synonym"
                },
                {
                    "name": "CNPase",
                    "type": "synonym"
                },
                {
                    "name": "CNP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cnp",
                    "type": "recommended"
                },
                {
                    "name": "CNPF",
                    "type": "synonym"
                },
                {
                    "name": "CNPII",
                    "type": "synonym"
                },
                {
                    "name": "CNPI",
                    "type": "synonym"
                },
                {
                    "name": "Cnp1",
                    "type": "synonym"
                },
                {
                    "name": "Cnp",
                    "type": "synonym"
                }
            ],
            "record_id": "P13233-1",
            "evidence": [
                {
                    "id": "0112153",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112153"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50430-1",
            "uniprot_ac": "P50430",
            "uniprot_id": "ARSB_RAT",
            "refseq_ac": "NP_254278",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Arylsulfatase B",
                    "type": "recommended"
                },
                {
                    "name": "3.1.6.12",
                    "type": "synonym"
                },
                {
                    "name": "ASB",
                    "type": "synonym"
                },
                {
                    "name": "Arylsulfatase B (MPS VI)",
                    "type": "synonym"
                },
                {
                    "name": "G4S",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylgalactosamine-4-sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "arylsulfatase B precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arsb",
                    "type": "recommended"
                },
                {
                    "name": "Arsb",
                    "type": "synonym"
                }
            ],
            "record_id": "P50430-1",
            "evidence": [
                {
                    "id": "0112153",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112153"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112153"
}