{
    "disease_id": "DOID:0110088",
    "recommended_name": {
        "id": "DOID:0110088",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110088",
        "name": "asphyxiating thoracic dystrophy 4",
        "description": "An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110088",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110088",
            "name": "short-rib thoracic dysplasia 4 with or without polydactyly",
            "description": ""
        },
        {
            "id": "DOID:0110088",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110088",
            "name": "ATD4",
            "description": ""
        },
        {
            "id": "DOID:0110088",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110088",
            "name": "SRTD4",
            "description": ""
        },
        {
            "id": "MONDO:0013441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013441",
            "name": "asphyxiating thoracic dystrophy 4",
            "description": "An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24."
        },
        {
            "id": "MONDO:0013441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013441",
            "name": "ATD4",
            "description": ""
        },
        {
            "id": "MONDO:0013441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013441",
            "name": "SRTD4",
            "description": ""
        },
        {
            "id": "MONDO:0013441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013441",
            "name": "asphyxiating thoracic dystrophy 4",
            "description": ""
        },
        {
            "id": "MONDO:0013441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013441",
            "name": "asphyxiating thoracic dystrophy type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013441",
            "name": "short-rib thoracic dysplasia 4 with or without polydactyly",
            "description": ""
        },
        {
            "id": "MIM:613819",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613819",
            "name": "Short-rib thoracic dysplasia 4 with or without polydactyly",
            "description": "Short-rib thoracic dysplasia 4 with or without polydactyly"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110088"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110088",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110088",
            "categories": []
        },
        {
            "id": "MONDO:0013441",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013441",
            "categories": []
        },
        {
            "id": "MIM:613819",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613819",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0R0W1-1",
            "uniprot_ac": "B0R0W1",
            "uniprot_id": "B0R0W1_DANRE",
            "refseq_ac": "NP_001121730",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetratricopeptide repeat protein 21B",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 21B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ttc21b",
                    "type": "recommended"
                },
                {
                    "name": "sb:cb947",
                    "type": "synonym"
                },
                {
                    "name": "ttc21b",
                    "type": "synonym"
                }
            ],
            "record_id": "B0R0W1-1",
            "evidence": [
                {
                    "id": "0110088",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110088"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0HA38-1",
            "uniprot_ac": "Q0HA38",
            "uniprot_id": "TT21B_MOUSE",
            "refseq_ac": "NP_001041069",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetratricopeptide repeat protein 21B",
                    "type": "recommended"
                },
                {
                    "name": "Intraflagellar transport 139 homolog",
                    "type": "synonym"
                },
                {
                    "name": "TPR repeat protein 21B",
                    "type": "synonym"
                },
                {
                    "name": "Tetratricopeptide repeat-containing hedgehog modulator 1",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport 139 homolog",
                    "type": "synonym"
                },
                {
                    "name": "line 158",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 21B isoform a",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 21B",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat-containing hedgehog modulator 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ttc21b",
                    "type": "recommended"
                },
                {
                    "name": "2410066K11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ift139",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1992",
                    "type": "synonym"
                },
                {
                    "name": "Thm1",
                    "type": "synonym"
                },
                {
                    "name": "Ttc21b",
                    "type": "synonym"
                },
                {
                    "name": "aln",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1992",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0HA38-1",
            "evidence": [
                {
                    "id": "0110088",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110088"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z4L5-1",
            "uniprot_ac": "Q7Z4L5",
            "uniprot_id": "TT21B_HUMAN",
            "refseq_ac": "NP_079029",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetratricopeptide repeat protein 21B",
                    "type": "recommended"
                },
                {
                    "name": "Intraflagellar transport 139 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Nephronophthisis type12",
                    "type": "synonym"
                },
                {
                    "name": "TPR repeat protein 21B",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport 139 homolog",
                    "type": "synonym"
                },
                {
                    "name": "putative protein product of Nbla10696",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 21B",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat-containing hedgehog modulator-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TTC21B",
                    "type": "recommended"
                },
                {
                    "name": "ATD4",
                    "type": "synonym"
                },
                {
                    "name": "CFAP60",
                    "type": "synonym"
                },
                {
                    "name": "FAP60",
                    "type": "synonym"
                },
                {
                    "name": "FLA17",
                    "type": "synonym"
                },
                {
                    "name": "IFT139B",
                    "type": "synonym"
                },
                {
                    "name": "IFT139",
                    "type": "synonym"
                },
                {
                    "name": "JBTS11",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1992",
                    "type": "synonym"
                },
                {
                    "name": "NPHP12",
                    "type": "synonym"
                },
                {
                    "name": "Nbla10696",
                    "type": "synonym"
                },
                {
                    "name": "SRTD4",
                    "type": "synonym"
                },
                {
                    "name": "THM1",
                    "type": "synonym"
                },
                {
                    "name": "TTC21B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z4L5-1",
            "evidence": [
                {
                    "id": "613819",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613819"
                },
                {
                    "id": "0110088",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110088"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GBB8-1",
            "uniprot_ac": "A0A8I6GBB8",
            "uniprot_id": "A0A8I6GBB8_RAT",
            "refseq_ac": "NP_001178666",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetratricopeptide repeat protein 21B",
                    "type": "recommended"
                },
                {
                    "name": "Intraflagellar transport 139 homolog",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 21B-like",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 21B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ttc21b",
                    "type": "recommended"
                },
                {
                    "name": "RGD1565122",
                    "type": "synonym"
                },
                {
                    "name": "Ttc21b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6GBB8-1",
            "evidence": [
                {
                    "id": "0110088",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110088"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110088"
}