{ "disease_id": "DOID:0051016", "recommended_name": { "id": "DOID:0051016", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0051016", "name": "visceral heterotaxy 1", "description": "A visceral heterotaxy that is characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach and that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26." }, "synonyms": [ { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "heterotaxy, visceral, 1, X-linked", "description": "X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia." }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "ZIC3 visceral heterotaxy", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "congenital heart defects, nonsyndromic, 1, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "heterotaxy, visceral, 1, X-linked", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "heterotaxy, visceral, 1, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "visceral heterotaxy caused by mutation in ZIC3", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "HTX1", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "X-linked visceral heterotaxy 1", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "heterotaxy, visceral, X-linked", "description": "" }, { "id": "MIM:306955", "resource": "MIM", "url": "https://www.omim.org/entry/306955", "name": "Heterotaxy, visceral, 1, X-linked", "description": "Heterotaxy, visceral, 1, X-linked" } ], "children": [], "id_list": [ "DOID:0051016" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0051016", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0051016", "categories": [] }, { "id": "MONDO:0010607", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "categories": [] }, { "id": "MIM:306955", "database": "MIM", "url": "https://www.omim.org/entry/306955", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "Q62521-1", "uniprot_ac": "Q62521", "uniprot_id": "ZIC3_MOUSE", "refseq_ac": "NP_033601", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Zinc finger protein ZIC 3", "type": "recommended" }, { "name": "Zic family member 3 (odd-paired homolog, Drosophila)", "type": "synonym" }, { "name": "Zinc finger protein of the cerebellum 3", "type": "synonym" }, { "name": "zinc finger protein ZIC 3", "type": "synonym" } ], "gene_names": [ { "name": "Zic3", "type": "recommended" }, { "name": "Bn", "type": "synonym" }, { "name": "Ka", "type": "synonym" }, { "name": "Zic3", "type": "synonym" } ], "record_id": "Q62521-1", "evidence": [ { "id": "0051016", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051016" } ] }, { "uniprot_canonical_ac": "O60481-1", "uniprot_ac": "O60481", "uniprot_id": "ZIC3_HUMAN", "refseq_ac": "NP_001317590", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Zinc finger protein ZIC 3", "type": "recommended" }, { "name": "Zic family member 3 (odd-paired homolog, Drosophila)", "type": "synonym" }, { "name": "Zinc finger protein 203", "type": "synonym" }, { "name": "Zinc finger protein of the cerebellum 3", "type": "synonym" }, { "name": "heterotaxy 1", "type": "synonym" }, { "name": "zinc finger protein 203", "type": "synonym" }, { "name": "zinc finger protein ZIC 3 isoform 2", "type": "synonym" }, { "name": "zinc finger protein ZIC 3", "type": "synonym" }, { "name": "zinc finger protein of the cerebellum 3", "type": "synonym" } ], "gene_names": [ { "name": "ZIC3", "type": "recommended" }, { "name": "HTX1", "type": "synonym" }, { "name": "HTX", "type": "synonym" }, { "name": "VACTERLX", "type": "synonym" }, { "name": "ZIC3", "type": "synonym" }, { "name": "ZNF203", "type": "synonym" } ], "record_id": "O60481-1", "evidence": [ { "id": "306955", "database": "MIM", "url": "https://www.omim.org/entry/306955" }, { "id": "0051016", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051016" } ] }, { "uniprot_canonical_ac": "A0ABK0LH97-1", "uniprot_ac": "A0ABK0LH97", "uniprot_id": "A0ABK0LH97_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": "Zic family member 3", "type": "synonym" } ], "gene_names": [ { "name": "Zic3", "type": "recommended" } ], "record_id": "A0ABK0LH97-1", "evidence": [ { "id": "0051016", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051016" } ] }, { "uniprot_canonical_ac": "P39768-1", "uniprot_ac": "P39768", "uniprot_id": "OPA_DROME", "refseq_ac": "NP_524228", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Pair-rule protein odd-paired", "type": "recommended" }, { "name": "CG1133-PA", "type": "synonym" }, { "name": "GLI-Kr zinc finger pair-rule protein", "type": "synonym" }, { "name": "Odd paired", "type": "synonym" }, { "name": "Odd-paired", "type": "synonym" }, { "name": "odd paired, isoform A", "type": "synonym" }, { "name": "opa-PA", "type": "synonym" } ], "gene_names": [ { "name": "opa", "type": "recommended" }, { "name": "CG1133", "type": "synonym" }, { "name": "Dmel\\CG1133", "type": "synonym" }, { "name": "Dmel_CG1133", "type": "synonym" }, { "name": "Opa", "type": "synonym" }, { "name": "opa", "type": "synonym" } ], "record_id": "P39768-1", "evidence": [ { "id": "0051016", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051016" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0051016" }