{
    "disease_id": "DOID:0081122",
    "recommended_name": {
        "id": "DOID:0081122",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081122",
        "name": "Catel Manzke syndrome",
        "description": "A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32."
    },
    "synonyms": [
        {
            "id": "DOID:0081122",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081122",
            "name": "Micrognathia digital syndrome",
            "description": ""
        },
        {
            "id": "DOID:0081122",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081122",
            "name": "Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "Catel-Manzke syndrome",
            "description": "Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis."
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "Catel Manzke Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "Catel-Manzke syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "Palatodigital syndrome, Catel-Manzke type",
            "description": ""
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "Pierre Robin sequence-hyperphalangy-clinodactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "index finger anomaly-Pierre Robin syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "micrognathia digital syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "CATMANS",
            "description": ""
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "Catel Manzke syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "Palatodigital syndrome Catel-Manzke type",
            "description": ""
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "Catel-Manzke syndrome",
            "description": "Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis."
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "Catel Manzke Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "Catel-Manzke syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "Palatodigital syndrome, Catel-Manzke type",
            "description": ""
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "Pierre Robin sequence-hyperphalangy-clinodactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "index finger anomaly-Pierre Robin syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "micrognathia digital syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "CATMANS",
            "description": ""
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "Catel Manzke syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "name": "Palatodigital syndrome Catel-Manzke type",
            "description": ""
        },
        {
            "id": "MIM:616145",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616145",
            "name": "Catel-Manzke syndrome",
            "description": "Catel-Manzke syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081122"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081122",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081122",
            "categories": []
        },
        {
            "id": "MONDO:0014507",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014507",
            "categories": []
        },
        {
            "id": "MIM:616145",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616145",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8VDR7-1",
            "uniprot_ac": "Q8VDR7",
            "uniprot_id": "TGDS_MOUSE",
            "refseq_ac": "NP_083854",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-D-glucose 4,6-dehydratase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.76",
                    "type": "synonym"
                },
                {
                    "name": "UDP-D-glucose 4,6-dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "dTDP-D-glucose 4,6-dehydratase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tgds",
                    "type": "recommended"
                },
                {
                    "name": "2610017J16Rik",
                    "type": "synonym"
                },
                {
                    "name": "2610025M23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tgds",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VDR7-1",
            "evidence": [
                {
                    "id": "0081122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081122"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95455-1",
            "uniprot_ac": "O95455",
            "uniprot_id": "TGDS_HUMAN",
            "refseq_ac": "NP_001291359",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-D-glucose 4,6-dehydratase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.76",
                    "type": "synonym"
                },
                {
                    "name": "UDP-D-glucose 4,6-dehydratase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "UDP-D-glucose 4,6-dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "dTDP-D-glucose 4,6-dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "growth-inhibiting protein 21",
                    "type": "synonym"
                },
                {
                    "name": "short chain dehydrogenase/reductase family 2E, member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TGDS",
                    "type": "recommended"
                },
                {
                    "name": "CATMANS",
                    "type": "synonym"
                },
                {
                    "name": "SDR2E1",
                    "type": "synonym"
                },
                {
                    "name": "TDPGD",
                    "type": "synonym"
                },
                {
                    "name": "TGDS",
                    "type": "synonym"
                }
            ],
            "record_id": "O95455-1",
            "evidence": [
                {
                    "id": "616145",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616145"
                },
                {
                    "id": "0081122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081122"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JZS4-1",
            "uniprot_ac": "A0A0G2JZS4",
            "uniprot_id": "A0A0G2JZS4_RAT",
            "refseq_ac": "NP_001381658",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-D-glucose 4,6-dehydratase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.76",
                    "type": "synonym"
                },
                {
                    "name": "dTDP-D-glucose 4,6-dehydratase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tgds",
                    "type": "recommended"
                },
                {
                    "name": "Tgds",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JZS4-1",
            "evidence": [
                {
                    "id": "0081122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081122"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081122"
}