{
    "disease_id": "DOID:0070403",
    "recommended_name": {
        "id": "DOID:0070403",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070403",
        "name": "hypomyelinating leukodystrophy 26",
        "description": "A hypomyelinating leukodystrophy characterized by severe psychomotor delay, predominantly involving motor and expressive language development, cerebral and cerebellar atrophy, and corpus callosum hypoplasia that has_material_basis_in homozygous mutation in the SLC35B2 gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "DOID:0070403",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070403",
            "name": "HLD26",
            "description": ""
        },
        {
            "id": "MONDO:0859518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859518",
            "name": "leukodystrophy, hypomyelinating, 26, with chondrodysplasia",
            "description": ""
        },
        {
            "id": "MIM:620269",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620269",
            "name": "Leukodystrophy, hypomyelinating, 26, with chondrodysplasia",
            "description": "Leukodystrophy, hypomyelinating, 26, with chondrodysplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070403"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070403",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070403",
            "categories": []
        },
        {
            "id": "MONDO:0859518",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859518",
            "categories": []
        },
        {
            "id": "MIM:620269",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620269",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91ZN5-1",
            "uniprot_ac": "Q91ZN5",
            "uniprot_id": "S35B2_MOUSE",
            "refseq_ac": "NP_001344034",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenosine 3'-phospho 5'-phosphosulfate transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "PAPS transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 35 member B2",
                    "type": "synonym"
                },
                {
                    "name": "adenosine 3'-phospho 5'-phosphosulfate transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 35, member B1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc35b2",
                    "type": "recommended"
                },
                {
                    "name": "1110003M08Rik",
                    "type": "synonym"
                },
                {
                    "name": "J207",
                    "type": "synonym"
                },
                {
                    "name": "PAPST1",
                    "type": "synonym"
                },
                {
                    "name": "Slc35b1",
                    "type": "synonym"
                },
                {
                    "name": "Slc35b2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91ZN5-1",
            "evidence": [
                {
                    "id": "0070403",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070403"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TB61-1",
            "uniprot_ac": "Q8TB61",
            "uniprot_id": "S35B2_HUMAN",
            "refseq_ac": "NP_001273438",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenosine 3'-phospho 5'-phosphosulfate transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "3'-phosphoadenosine 5'-phosphosulfate transporter",
                    "type": "synonym"
                },
                {
                    "name": "PAPS transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Putative MAPK-activating protein PM15",
                    "type": "synonym"
                },
                {
                    "name": "Putative NF-kappa-B-activating protein 48",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 35 member B2",
                    "type": "synonym"
                },
                {
                    "name": "adenosine 3'-phospho 5'-phosphosulfate transporter 1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "adenosine 3'-phospho 5'-phosphosulfate transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "putative MAPK-activating protein PM15",
                    "type": "synonym"
                },
                {
                    "name": "putative NF-kappa-B-activating protein 48",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC35B2",
                    "type": "recommended"
                },
                {
                    "name": "HLD26",
                    "type": "synonym"
                },
                {
                    "name": "PAPST1",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0149",
                    "type": "synonym"
                },
                {
                    "name": "SLC35B2",
                    "type": "synonym"
                },
                {
                    "name": "SLL",
                    "type": "synonym"
                },
                {
                    "name": "UGTrel4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TB61-1",
            "evidence": [
                {
                    "id": "620269",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620269"
                },
                {
                    "id": "0070403",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070403"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12520-1",
            "uniprot_ac": "Q12520",
            "uniprot_id": "HUT1_YEAST",
            "refseq_ac": "NP_015080",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-galactose transporter homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "Multicopy suppressor of leflunomide-sensitivity protein 6",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactose transporter HUT1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HUT1",
                    "type": "recommended"
                },
                {
                    "name": "HUT1",
                    "type": "synonym"
                },
                {
                    "name": "MLF6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12520-1",
            "evidence": [
                {
                    "id": "0070403",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070403"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7FLA1-1",
            "uniprot_ac": "F7FLA1",
            "uniprot_id": "F7FLA1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenosine 3'-phospho 5'-phosphosulfate transporter 1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc35b2",
                    "type": "recommended"
                }
            ],
            "record_id": "F7FLA1-1",
            "evidence": [
                {
                    "id": "0070403",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070403"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VEI3-1",
            "uniprot_ac": "Q9VEI3",
            "uniprot_id": "S35B2_DROME",
            "refseq_ac": "NP_001247153",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenosine 3'-phospho 5'-phosphosulfate transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "CG7623-PB",
                    "type": "synonym"
                },
                {
                    "name": "PAPS transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein slalom",
                    "type": "synonym"
                },
                {
                    "name": "slalom, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "slalom",
                    "type": "synonym"
                },
                {
                    "name": "sll-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sll",
                    "type": "recommended"
                },
                {
                    "name": "1422/14",
                    "type": "synonym"
                },
                {
                    "name": "CG7623",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7623",
                    "type": "synonym"
                },
                {
                    "name": "PAPST1",
                    "type": "synonym"
                },
                {
                    "name": "Sll",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.555",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0172774.85",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S142214",
                    "type": "synonym"
                },
                {
                    "name": "sll",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VEI3-1",
            "evidence": [
                {
                    "id": "0070403",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070403"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070403"
}