{
    "disease_id": "DOID:0050631",
    "recommended_name": {
        "id": "DOID:0050631",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050631",
        "name": "Allan-Herndon-Dudley syndrome",
        "description": "A syndrome that has_material_basis_in mutation in the MCT8 gene on chromosome Xq13."
    },
    "synonyms": [
        {
            "id": "DOID:0050631",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050631",
            "name": "AHDS",
            "description": ""
        },
        {
            "id": "DOID:0050631",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050631",
            "name": "ALLAN-HERNDON SYNDROME",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "Allan-Herndon-Dudley syndrome",
            "description": "A syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency."
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "AHDS",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "ALLAN-Herndon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "Allan-Herndon-Dudley syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "MCT8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "MCT8-Specific Thyroid Hormone Cell Transporter Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "MCT8-specific thyroid hormone cell Membrane transporter deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "X-linked intellectual disability-hypotonia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "monocarboxylate transporter 8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "T3 resisitence",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "X-linked intellectual disability with hypotonia",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "intellectual disability and muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "mental retardation and muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "mental retardation, X-linked, with hypotonia",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "monocarboxylate transporter-8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "triiodothyronine resistance",
            "description": ""
        },
        {
            "id": "MIM:300523",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300523",
            "name": "Monocarboxylate transporter 8 deficiency",
            "description": "Monocarboxylate transporter 8 deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050631"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050631",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050631",
            "categories": []
        },
        {
            "id": "MONDO:0010354",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "categories": []
        },
        {
            "id": "MIM:300523",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300523",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "G8XYX6-1",
            "uniprot_ac": "G8XYX6",
            "uniprot_id": "MOT8_DANRE",
            "refseq_ac": "NP_001245159",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Monocarboxylate transporter 8",
                    "type": "recommended"
                },
                {
                    "name": "MCT 8",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 16 member 2",
                    "type": "synonym"
                },
                {
                    "name": "monocarboxylate transporter 8",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 16 (monocarboxylic acid transporters), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 16, member 2 (thyroid hormone transporter)",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 16, member 2, protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc16a2",
                    "type": "recommended"
                },
                {
                    "name": "MCT 8",
                    "type": "synonym"
                },
                {
                    "name": "mct8",
                    "type": "synonym"
                },
                {
                    "name": "slc16a2",
                    "type": "synonym"
                }
            ],
            "record_id": "G8XYX6-1",
            "evidence": [
                {
                    "id": "0050631",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050631"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70324-1",
            "uniprot_ac": "O70324",
            "uniprot_id": "MOT8_MOUSE",
            "refseq_ac": "NP_033223",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Monocarboxylate transporter 8",
                    "type": "recommended"
                },
                {
                    "name": "MCT 8",
                    "type": "synonym"
                },
                {
                    "name": "Monocarboxylate transporter 8 (MCT 8) (X-linked PEST-containing transporter)",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 16 member 2",
                    "type": "synonym"
                },
                {
                    "name": "X-linked PEST-containing transporter",
                    "type": "synonym"
                },
                {
                    "name": "monocarboxylate transporter 8",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 16 member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc16a2",
                    "type": "recommended"
                },
                {
                    "name": "Mct8",
                    "type": "synonym"
                },
                {
                    "name": "Slc16a2",
                    "type": "synonym"
                },
                {
                    "name": "Xpct",
                    "type": "synonym"
                }
            ],
            "record_id": "O70324-1",
            "evidence": [
                {
                    "id": "0050631",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050631"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36021-1",
            "uniprot_ac": "P36021",
            "uniprot_id": "MOT8_HUMAN",
            "refseq_ac": "NP_006508",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Monocarboxylate transporter 8",
                    "type": "recommended"
                },
                {
                    "name": "MCT 7",
                    "type": "synonym"
                },
                {
                    "name": "MCT 8",
                    "type": "synonym"
                },
                {
                    "name": "Monocarboxylate transporter 7",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 16 member 2",
                    "type": "synonym"
                },
                {
                    "name": "X-linked PEST-containing transporter",
                    "type": "synonym"
                },
                {
                    "name": "monocarboxylate transporter 7",
                    "type": "synonym"
                },
                {
                    "name": "monocarboxylate transporter 8",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 16, member 2 (thyroid hormone transporter)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC16A2",
                    "type": "recommended"
                },
                {
                    "name": "AHDS",
                    "type": "synonym"
                },
                {
                    "name": "DXS128E",
                    "type": "synonym"
                },
                {
                    "name": "DXS128",
                    "type": "synonym"
                },
                {
                    "name": "MCT 7",
                    "type": "synonym"
                },
                {
                    "name": "MCT 8",
                    "type": "synonym"
                },
                {
                    "name": "MCT7",
                    "type": "synonym"
                },
                {
                    "name": "MCT8",
                    "type": "synonym"
                },
                {
                    "name": "MRX22",
                    "type": "synonym"
                },
                {
                    "name": "SLC16A2",
                    "type": "synonym"
                },
                {
                    "name": "XPCT",
                    "type": "synonym"
                }
            ],
            "record_id": "P36021-1",
            "evidence": [
                {
                    "id": "300523",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300523"
                },
                {
                    "id": "0050631",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050631"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53918-1",
            "uniprot_ac": "P53918",
            "uniprot_id": "ESBP6_YEAST",
            "refseq_ac": "NP_014274",
            "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": "Uncharacterized transporter ESBP6",
                    "type": "recommended"
                },
                {
                    "name": "Esbp6p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ESBP6",
                    "type": "recommended"
                },
                {
                    "name": "ESBP6",
                    "type": "synonym"
                },
                {
                    "name": "MCH3",
                    "type": "synonym"
                },
                {
                    "name": "N1223",
                    "type": "synonym"
                },
                {
                    "name": "N1882",
                    "type": "synonym"
                }
            ],
            "record_id": "P53918-1",
            "evidence": [
                {
                    "id": "0050631",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050631"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36032-1",
            "uniprot_ac": "P36032",
            "uniprot_id": "MCH2_YEAST",
            "refseq_ac": "NP_012701",
            "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": "Probable transporter MCH2",
                    "type": "recommended"
                },
                {
                    "name": "Mch2p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCH2",
                    "type": "recommended"
                },
                {
                    "name": "MCH2",
                    "type": "synonym"
                }
            ],
            "record_id": "P36032-1",
            "evidence": [
                {
                    "id": "0050631",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050631"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08268-1",
            "uniprot_ac": "Q08268",
            "uniprot_id": "MCH4_YEAST",
            "refseq_ac": "NP_014522",
            "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": "Probable transporter MCH4",
                    "type": "recommended"
                },
                {
                    "name": "Mch4p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCH4",
                    "type": "recommended"
                },
                {
                    "name": "MCH4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08268-1",
            "evidence": [
                {
                    "id": "0050631",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050631"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08777-1",
            "uniprot_ac": "Q08777",
            "uniprot_id": "MCH5_YEAST",
            "refseq_ac": "NP_014951",
            "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": "Riboflavin transporter MCH5",
                    "type": "recommended"
                },
                {
                    "name": "riboflavin transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCH5",
                    "type": "recommended"
                },
                {
                    "name": "MCH5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08777-1",
            "evidence": [
                {
                    "id": "0050631",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050631"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K1P8-1",
            "uniprot_ac": "Q8K1P8",
            "uniprot_id": "MOT8_RAT",
            "refseq_ac": "NP_671749",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Monocarboxylate transporter 8",
                    "type": "recommended"
                },
                {
                    "name": "MCT 8",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 16 member 2",
                    "type": "synonym"
                },
                {
                    "name": "monocarboxylate transporter 8",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 16 (monocarboxylic acid transporters), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 16, member 2 (monocarboxylic acid transporter 8)",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 16, member 2 (thyroid hormone transporter)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC16A2",
                    "type": "recommended"
                },
                {
                    "name": "Mct8",
                    "type": "synonym"
                },
                {
                    "name": "Slc16a2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K1P8-1",
            "evidence": [
                {
                    "id": "0050631",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050631"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050631"
}