{
    "disease_id": "DOID:0080226",
    "recommended_name": {
        "id": "DOID:0080226",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080226",
        "name": "autosomal dominant intellectual developmental disorder 56",
        "description": "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23."
    },
    "synonyms": [
        {
            "id": "DOID:0080226",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080226",
            "name": "autosomal dominant mental retardation 56",
            "description": ""
        },
        {
            "id": "DOID:0080226",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080226",
            "name": "autosomal dominant intellectual developmental disorder-56",
            "description": ""
        },
        {
            "id": "MONDO:0030922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030922",
            "name": "intellectual disability, autosomal dominant 56",
            "description": ""
        },
        {
            "id": "MONDO:0030922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030922",
            "name": "CLTC-related ID",
            "description": ""
        },
        {
            "id": "MONDO:0030922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030922",
            "name": "CLTC-related disorder",
            "description": ""
        },
        {
            "id": "MONDO:0030922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030922",
            "name": "CLTC-related intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0030922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030922",
            "name": "intellectual disability, autosomal dominant 56",
            "description": ""
        },
        {
            "id": "MONDO:0030922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030922",
            "name": "MRD56",
            "description": ""
        },
        {
            "id": "MONDO:0030922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030922",
            "name": "autosomal dominant mental retardation 56",
            "description": ""
        },
        {
            "id": "MONDO:0030922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030922",
            "name": "mental retardation, autosomal dominant 56",
            "description": ""
        },
        {
            "id": "MIM:617854",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617854",
            "name": "Intellectual developmental disorder, autosomal dominant 56",
            "description": "Intellectual developmental disorder, autosomal dominant 56"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080226"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080226",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080226",
            "categories": []
        },
        {
            "id": "MONDO:0030922",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030922",
            "categories": []
        },
        {
            "id": "MIM:617854",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617854",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R966-1",
            "uniprot_ac": "F1R966",
            "uniprot_id": "F1R966_DANRE",
            "refseq_ac": "NP_001005391",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Clathrin heavy chain",
                    "type": "recommended"
                },
                {
                    "name": "clathrin, heavy chain a (Hc)",
                    "type": "synonym"
                },
                {
                    "name": "clathrin, heavy polypeptide a (Hc)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cltca",
                    "type": "recommended"
                },
                {
                    "name": "cb1033",
                    "type": "synonym"
                },
                {
                    "name": "cltca",
                    "type": "synonym"
                },
                {
                    "name": "cltc",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc03e11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc49a11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd07f02",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R966-1",
            "evidence": [
                {
                    "id": "0080226",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080226"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2B3R2-1",
            "uniprot_ac": "A0A8M2B3R2",
            "uniprot_id": "A0A8M2B3R2_DANRE",
            "refseq_ac": "XP_005157481",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Clathrin heavy chain",
                    "type": "recommended"
                },
                {
                    "name": "clathrin heavy chain 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cltcb",
                    "type": "recommended"
                },
                {
                    "name": "cltcb",
                    "type": "synonym"
                },
                {
                    "name": "fd07f11",
                    "type": "synonym"
                },
                {
                    "name": "im:7145213",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd07f11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113234",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B3R2-1",
            "evidence": [
                {
                    "id": "0080226",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080226"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q68FD5-1",
            "uniprot_ac": "Q68FD5",
            "uniprot_id": "CLH1_MOUSE",
            "refseq_ac": "NP_001003908",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Clathrin heavy chain 1",
                    "type": "recommended"
                },
                {
                    "name": "clathrin heavy chain 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "clathrin heavy chain 1",
                    "type": "synonym"
                },
                {
                    "name": "clathrin, heavy polypeptide (Hc)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cltc",
                    "type": "recommended"
                },
                {
                    "name": "3110065L21Rik",
                    "type": "synonym"
                },
                {
                    "name": "CHC",
                    "type": "synonym"
                },
                {
                    "name": "Cltc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68FD5-1",
            "evidence": [
                {
                    "id": "0080226",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080226"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00610-1",
            "uniprot_ac": "Q00610",
            "uniprot_id": "CLH1_HUMAN",
            "refseq_ac": "NP_004850",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Clathrin heavy chain 1",
                    "type": "recommended"
                },
                {
                    "name": "CLH-17",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin heavy chain on chromosome 17",
                    "type": "synonym"
                },
                {
                    "name": "clathrin heavy chain 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "clathrin heavy chain 1",
                    "type": "synonym"
                },
                {
                    "name": "clathrin heavy chain on chromosome 17",
                    "type": "synonym"
                },
                {
                    "name": "clathrin, heavy polypeptide (Hc)",
                    "type": "synonym"
                },
                {
                    "name": "clathrin, heavy polypeptide-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLTC",
                    "type": "recommended"
                },
                {
                    "name": "CHC17",
                    "type": "synonym"
                },
                {
                    "name": "CHC",
                    "type": "synonym"
                },
                {
                    "name": "CLH-17",
                    "type": "synonym"
                },
                {
                    "name": "CLH17",
                    "type": "synonym"
                },
                {
                    "name": "CLTCL2",
                    "type": "synonym"
                },
                {
                    "name": "CLTC",
                    "type": "synonym"
                },
                {
                    "name": "Hc",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0034",
                    "type": "synonym"
                },
                {
                    "name": "MRD56",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00610-1",
            "evidence": [
                {
                    "id": "617854",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617854"
                },
                {
                    "id": "0080226",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080226"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22137-1",
            "uniprot_ac": "P22137",
            "uniprot_id": "CLH_YEAST",
            "refseq_ac": "NP_011309",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Clathrin heavy chain",
                    "type": "recommended"
                },
                {
                    "name": "clathrin heavy chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHC1",
                    "type": "recommended"
                },
                {
                    "name": "CHC1",
                    "type": "synonym"
                },
                {
                    "name": "SWA5",
                    "type": "synonym"
                }
            ],
            "record_id": "P22137-1",
            "evidence": [
                {
                    "id": "0080226",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080226"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11442-1",
            "uniprot_ac": "P11442",
            "uniprot_id": "CLH1_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": "Clathrin heavy chain 1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Cltc",
                    "type": "recommended"
                }
            ],
            "record_id": "P11442-1",
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                {
                    "id": "0080226",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080226"
                }
            ]
        },
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            "uniprot_canonical_ac": "P07943-1",
            "uniprot_ac": "P07943",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aldo-keto reductase family 1 member B1",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.21",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.300",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.372",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.54",
                    "type": "synonym"
                },
                {
                    "name": "AR",
                    "type": "synonym"
                },
                {
                    "name": "Aldehyde reductase 1 (low Km aldose reductase) (5.8 kb PstI fragment, probably the functional gene)",
                    "type": "synonym"
                },
                {
                    "name": "Aldehyde reductase",
                    "type": "synonym"
                },
                {
                    "name": "Aldose reductase",
                    "type": "synonym"
                },
                {
                    "name": "aldo-keto reductase family 1 member B1",
                    "type": "synonym"
                },
                {
                    "name": "aldo-keto reductase family 1 member B",
                    "type": "synonym"
                },
                {
                    "name": "aldose reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Akr1b1",
                    "type": "recommended"
                },
                {
                    "name": "ALDRED",
                    "type": "synonym"
                },
                {
                    "name": "ALR-P-I",
                    "type": "synonym"
                },
                {
                    "name": "Akr1b1",
                    "type": "synonym"
                },
                {
                    "name": "Akr1b3",
                    "type": "synonym"
                },
                {
                    "name": "Akr1b4",
                    "type": "synonym"
                },
                {
                    "name": "Aldr1",
                    "type": "synonym"
                },
                {
                    "name": "Alr",
                    "type": "synonym"
                },
                {
                    "name": "RATALDRED",
                    "type": "synonym"
                }
            ],
            "record_id": "P07943-1",
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                {
                    "id": "0080226",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080226"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29742-1",
            "uniprot_ac": "P29742",
            "uniprot_id": "CLH_DROME",
            "refseq_ac": "NP_001096993",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Clathrin heavy chain",
                    "type": "recommended"
                },
                {
                    "name": "CG9012-PE",
                    "type": "synonym"
                },
                {
                    "name": "Chc-PE",
                    "type": "synonym"
                },
                {
                    "name": "clathrin hc",
                    "type": "synonym"
                },
                {
                    "name": "clathrin heavy chain, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "clathrin heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "clathrin heavy-chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chc",
                    "type": "recommended"
                },
                {
                    "name": "CG9012",
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                },
                {
                    "name": "CHC",
                    "type": "synonym"
                },
                {
                    "name": "CLH",
                    "type": "synonym"
                },
                {
                    "name": "Chc",
                    "type": "synonym"
                },
                {
                    "name": "Cla",
                    "type": "synonym"
                },
                {
                    "name": "Clh",
                    "type": "synonym"
                },
                {
                    "name": "D-Chc",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9012",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9012",
                    "type": "synonym"
                },
                {
                    "name": "chc1",
                    "type": "synonym"
                },
                {
                    "name": "chc",
                    "type": "synonym"
                },
                {
                    "name": "dCHC",
                    "type": "synonym"
                },
                {
                    "name": "l(1)13Fb",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0438",
                    "type": "synonym"
                },
                {
                    "name": "l(1)VI",
                    "type": "synonym"
                }
            ],
            "record_id": "P29742-1",
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                    "id": "0080226",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080226"
                }
            ]
        },
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            "uniprot_canonical_ac": "O75462-1",
            "uniprot_ac": "O75462",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytokine receptor-like factor 1",
                    "type": "recommended"
                },
                {
                    "name": "CLF-1",
                    "type": "synonym"
                },
                {
                    "name": "Cytokine-like factor 1",
                    "type": "synonym"
                },
                {
                    "name": "ZcytoR5",
                    "type": "synonym"
                },
                {
                    "name": "class I cytokine receptor",
                    "type": "synonym"
                },
                {
                    "name": "cytokine receptor-like factor 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytokine type 1 receptor CRLP-1",
                    "type": "synonym"
                },
                {
                    "name": "cytokine-like factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRLF1",
                    "type": "recommended"
                },
                {
                    "name": "CISS1",
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                },
                {
                    "name": "CISS",
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                },
                {
                    "name": "CLF-1",
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                },
                {
                    "name": "CLF",
                    "type": "synonym"
                },
                {
                    "name": "CRLF1",
                    "type": "synonym"
                },
                {
                    "name": "NR6",
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                },
                {
                    "name": "PRO327",
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                },
                {
                    "name": "zcytor5",
                    "type": "synonym"
                }
            ],
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                    "id": "0080226",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080226"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080226"
}