{
    "disease_id": "DOID:0080376",
    "recommended_name": {
        "id": "DOID:0080376",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080376",
        "name": "trichorhinophalangeal syndrome type III",
        "description": "A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23."
    },
    "synonyms": [
        {
            "id": "DOID:0080376",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080376",
            "name": "trichorhinophalangeal syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0008597",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008597",
            "name": "obsolete trichorhinophalangeal syndrome, type III",
            "description": "OBSOLETE. A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature."
        },
        {
            "id": "MONDO:0008597",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008597",
            "name": "TRPS 3",
            "description": ""
        },
        {
            "id": "MONDO:0008597",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008597",
            "name": "TRPS3",
            "description": ""
        },
        {
            "id": "MONDO:0008597",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008597",
            "name": "Trichorhinophalangeal Syndrome Type III",
            "description": ""
        },
        {
            "id": "MONDO:0008597",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008597",
            "name": "trichorhinophalangeal syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0008597",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008597",
            "name": "trichorhinophalangeal syndrome, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0008597",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008597",
            "name": "trichorhinophalangeal syndrome, type III",
            "description": ""
        },
        {
            "id": "MIM:190351",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/190351",
            "name": "Tricho-rhino-phalangeal syndrome 3",
            "description": "Tricho-rhino-phalangeal syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080376"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080376",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080376",
            "categories": []
        },
        {
            "id": "MONDO:0008597",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008597",
            "categories": []
        },
        {
            "id": "MIM:190351",
            "database": "MIM",
            "url": "https://www.omim.org/entry/190351",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q925H1-1",
            "uniprot_ac": "Q925H1",
            "uniprot_id": "TRPS1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger transcription factor Trps1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Trps1",
                    "type": "recommended"
                }
            ],
            "record_id": "Q925H1-1",
            "evidence": [
                {
                    "id": "0080376",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080376"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UHF7-1",
            "uniprot_ac": "Q9UHF7",
            "uniprot_id": "TRPS1_HUMAN",
            "refseq_ac": "NP_001269831",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger transcription factor Trps1",
                    "type": "recommended"
                },
                {
                    "name": "Tricho-rhino-phalangeal syndrome type I protein",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein GC79",
                    "type": "synonym"
                },
                {
                    "name": "tricho-rhino-phalangeal syndrome type I protein",
                    "type": "synonym"
                },
                {
                    "name": "trichorhinophalangeal syndrome I",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GC79",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger transcription factor Trps1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger transcription factor Trps1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRPS1",
                    "type": "recommended"
                },
                {
                    "name": "GC79",
                    "type": "synonym"
                },
                {
                    "name": "LGCR",
                    "type": "synonym"
                },
                {
                    "name": "TRPS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UHF7-1",
            "evidence": [
                {
                    "id": "190351",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/190351"
                },
                {
                    "id": "0080376",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080376"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LVM1-1",
            "uniprot_ac": "A0ABK0LVM1",
            "uniprot_id": "A0ABK0LVM1_RAT",
            "refseq_ac": "NP_001128309",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger transcription factor Trps1",
                    "type": "recommended"
                },
                {
                    "name": "trichorhinophalangeal syndrome I homolog",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger transcription factor Trps1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trps1",
                    "type": "recommended"
                },
                {
                    "name": "Trps1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LVM1-1",
            "evidence": [
                {
                    "id": "0080376",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080376"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080376"
}