{
    "disease_id": "DOID:0070402",
    "recommended_name": {
        "id": "DOID:0070402",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070402",
        "name": "hypomyelinating leukodystrophy 22",
        "description": "A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that has_material_basis_in heterozygous mutation in the CLDN11 gene on chromosome 3q26."
    },
    "synonyms": [
        {
            "id": "DOID:0070402",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070402",
            "name": "HLD22",
            "description": ""
        },
        {
            "id": "MONDO:0025701",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0025701",
            "name": "leukodystrophy, hypomyelinating, 22",
            "description": ""
        },
        {
            "id": "MONDO:0025701",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0025701",
            "name": "HLD22",
            "description": ""
        },
        {
            "id": "MIM:619328",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619328",
            "name": "Leukodystrophy, hypomyelinating, 22",
            "description": "Leukodystrophy, hypomyelinating, 22"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070402"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070402",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070402",
            "categories": []
        },
        {
            "id": "MONDO:0025701",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0025701",
            "categories": []
        },
        {
            "id": "MIM:619328",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619328",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q60771-1",
            "uniprot_ac": "Q60771",
            "uniprot_id": "CLD11_MOUSE",
            "refseq_ac": "NP_032796",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Claudin-11",
                    "type": "recommended"
                },
                {
                    "name": "Oligodendrocyte transmembrane protein",
                    "type": "synonym"
                },
                {
                    "name": "Oligodendrocyte-specific protein",
                    "type": "synonym"
                },
                {
                    "name": "claudin-11",
                    "type": "synonym"
                },
                {
                    "name": "oligodendrocyte transmembrane protein",
                    "type": "synonym"
                },
                {
                    "name": "oligodendrocyte-specific protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cldn11",
                    "type": "recommended"
                },
                {
                    "name": "Claudin-11",
                    "type": "synonym"
                },
                {
                    "name": "Claudin11",
                    "type": "synonym"
                },
                {
                    "name": "Cldn11",
                    "type": "synonym"
                },
                {
                    "name": "Osp",
                    "type": "synonym"
                },
                {
                    "name": "Otm",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60771-1",
            "evidence": [
                {
                    "id": "0070402",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070402"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75508-1",
            "uniprot_ac": "O75508",
            "uniprot_id": "CLD11_HUMAN",
            "refseq_ac": "NP_005593",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Claudin-11",
                    "type": "recommended"
                },
                {
                    "name": "Oligodendrocyte-specific protein",
                    "type": "synonym"
                },
                {
                    "name": "claudin-11 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "oligodendrocyte transmembrane protein",
                    "type": "synonym"
                },
                {
                    "name": "oligodendrocyte-specific protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLDN11",
                    "type": "recommended"
                },
                {
                    "name": "CLDN11",
                    "type": "synonym"
                },
                {
                    "name": "HLD22",
                    "type": "synonym"
                },
                {
                    "name": "OSP",
                    "type": "synonym"
                },
                {
                    "name": "OTM",
                    "type": "synonym"
                }
            ],
            "record_id": "O75508-1",
            "evidence": [
                {
                    "id": "619328",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619328"
                },
                {
                    "id": "0070402",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070402"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99P82-1",
            "uniprot_ac": "Q99P82",
            "uniprot_id": "CLD11_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Claudin-11",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Cldn11",
                    "type": "recommended"
                }
            ],
            "record_id": "Q99P82-1",
            "evidence": [
                {
                    "id": "0070402",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070402"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070402"
}