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Genet.", "date": "2000", "authors": "Glaser R L, Jiang W, Boyadjiev S A, Tran A K, Zachary A A, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall S A, Wilkie A O, Jabs E W", "reference": { "type": "PubMed", "id": "10712195", "url": "https://pubmed.ncbi.nlm.nih.gov/10712195" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21802", "url": "https://www.uniprot.org/uniprotkb/P21802" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10712195", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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"name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type 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], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?", "journal": "European journal of human genetics : EJHG", "date": "2000", "authors": "Johnson D, Wall SA, Mann S, Wilkie AO", "reference": { "type": "PubMed", "id": "10951518", "url": "https://pubmed.ncbi.nlm.nih.gov/10951518" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": 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{ "id": "rs1847938267", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1847938267#frequency_tab" }, { "id": "rs1847938267", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1847938267" } ], "glycoeffect": [], "start_pos": 315, "end_pos": 315, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "10", "chr_pos": "121517460", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A315", "disease": [ { "disease_id": "DOID:12960", "recommended_name": { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly." }, "synonyms": [ { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "ACS1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type I", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "type I Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalo-syndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "syndactylic oxycephaly", "description": "" }, { "id": "MIM:101200", "resource": "MIM", "url": "https://www.omim.org/entry/101200", "name": "Apert syndrome", "description": "Apert syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ] }, { "disease_id": "DOID:0081290", "recommended_name": { "id": "DOID:0081290", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome." }, "synonyms": [ { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "ABS2", "description": "" }, { "id": "MIM:207410", "resource": "MIM", "url": "https://www.omim.org/entry/207410", "name": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis", "description": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" }, { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ] }, { "disease_id": "DOID:0050660", "recommended_name": { "id": "DOID:0050660", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "BSTVS", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare Stevenson syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata - acanthosis nigricans - craniosynostosis", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome", "description": "" }, { "id": "MIM:123790", "resource": "MIM", "url": "https://www.omim.org/entry/123790", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "Beare-Stevenson cutis gyrata syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" }, { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ] }, { "disease_id": "DOID:0060992", "recommended_name": { "id": "DOID:0060992", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" }, { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", 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"https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "ACS1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type I", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "type I Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalo-syndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "syndactylic oxycephaly", "description": "" }, { "id": "MIM:101200", "resource": "MIM", "url": "https://www.omim.org/entry/101200", "name": "Apert syndrome", "description": "Apert syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ] }, { "disease_id": "DOID:0081290", "recommended_name": { "id": "DOID:0081290", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome." }, "synonyms": [ { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "ABS2", "description": "" }, { "id": "MIM:207410", "resource": "MIM", "url": "https://www.omim.org/entry/207410", "name": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis", "description": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" }, { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ] }, { "disease_id": "DOID:0050660", "recommended_name": { "id": "DOID:0050660", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "BSTVS", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare Stevenson syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata - acanthosis nigricans - craniosynostosis", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome", "description": "" }, { "id": "MIM:123790", "resource": "MIM", "url": "https://www.omim.org/entry/123790", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "Beare-Stevenson cutis gyrata syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" }, { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ] }, { "disease_id": "DOID:0060992", "recommended_name": { "id": "DOID:0060992", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" }, { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:1380", "recommended_name": { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus." }, "synonyms": [ { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "endometrial Ca", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "primary malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "tumor of Endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity)." }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "neoplasm of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumor of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumour of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "cancer of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, familial, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial carcinoma, somatic", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrium cancer", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant endometrium neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "MIM:608089", "resource": "MIM", "url": "https://www.omim.org/entry/608089", "name": "Endometrial cancer", "description": "Endometrial cancer" } ], "unlinked_id_list": [ "DOID:5166" ], "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": "https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000000000000000100.00000000000000.000000000001000000.00001.11.000.001", "uniprot_canonical_ac": "P21802-1" } ], "record_id": "pubmed.12000365", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", 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"field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 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{ "evidence": [ { "id": "P21802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P21802" }, { "id": "rs79184941", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs79184941" }, { "id": "rs79184941", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs79184941" }, { "id": "rs79184941", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs79184941#frequency_tab" }, { "id": "rs79184941", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs79184941" }, { "id": "11390973", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11390973" }, { "id": "12124745", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12124745" }, { "id": "16440883", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16440883" }, { "id": "17525745", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17525745" }, { "id": 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(8.2%); patient count (140/1704); protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "10", "chr_pos": "121520163", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S252", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:12960", "recommended_name": { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly." }, "synonyms": [ { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "ACS1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type I", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "type I Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalo-syndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "syndactylic oxycephaly", "description": "" }, { "id": "MIM:101200", "resource": "MIM", "url": "https://www.omim.org/entry/101200", "name": "Apert syndrome", "description": "Apert syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ] }, { "disease_id": "DOID:0081290", "recommended_name": { "id": "DOID:0081290", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome." }, "synonyms": [ { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "ABS2", "description": "" }, { "id": "MIM:207410", "resource": "MIM", "url": "https://www.omim.org/entry/207410", "name": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis", "description": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" }, { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ] }, { "disease_id": "DOID:0050660", "recommended_name": { "id": "DOID:0050660", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "BSTVS", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare Stevenson syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata - acanthosis nigricans - craniosynostosis", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome", "description": "" }, { "id": "MIM:123790", "resource": "MIM", "url": "https://www.omim.org/entry/123790", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "Beare-Stevenson cutis gyrata syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" }, { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ] }, { "disease_id": "DOID:0060992", "recommended_name": { "id": "DOID:0060992", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" }, { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:1380", "recommended_name": { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus." }, "synonyms": [ { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "endometrial Ca", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "primary malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "tumor of Endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity)." }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "neoplasm of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumor of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumour of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "cancer of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, familial, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial carcinoma, somatic", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrium cancer", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant endometrium neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "MIM:608089", "resource": "MIM", "url": "https://www.omim.org/entry/608089", "name": "Endometrial cancer", "description": "Endometrial cancer" } ], "unlinked_id_list": [ "DOID:5166" ], "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:0050331", "recommended_name": { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." }, "synonyms": [ { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "LEVY-HOLLISTER SYNDROME", "description": "" }, { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" }, { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ] }, { "disease_id": "DOID:0081370", "recommended_name": { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "LADD syndrome", "description": "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers." }, "synonyms": [ { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "lacrimoauriculodentodigital syndrome", "description": "" }, { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "Lacrimo-auriculo-dento-digital (LADD) syndrome", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "149730", "database": "MIM", "url": "https://www.omim.org/entry/149730" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": "https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000000000000100000.00000000000000.000000000001000000.00001.11.000.001", "uniprot_canonical_ac": "P21802-1" }, { "evidence": [ { "id": "P21802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P21802" }, { "id": "rs77543610", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs77543610" }, { "id": "rs77543610", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs77543610#frequency_tab" }, { "id": "11390973", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11390973" }, { "id": "12124745", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12124745" }, { "id": "16969861", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16969861" }, { "id": "8651276", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8651276" }, { "id": "rs77543610", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs77543610" } ], "glycoeffect": [], "start_pos": 253, "end_pos": 253, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "R", "comment": "Somatic mutation passed 2 filters: num. of cancers (4); protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "10", "chr_pos": "121520160", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "P253", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. 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"cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": 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"description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:12960", "recommended_name": { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly." }, "synonyms": [ { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "ACS1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type I", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "type I Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalo-syndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "syndactylic oxycephaly", "description": "" }, { "id": "MIM:101200", "resource": "MIM", "url": "https://www.omim.org/entry/101200", "name": "Apert syndrome", "description": "Apert syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ] }, { "disease_id": "DOID:0081290", "recommended_name": { "id": "DOID:0081290", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome." }, "synonyms": [ { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "ABS2", "description": "" }, { "id": "MIM:207410", "resource": "MIM", "url": "https://www.omim.org/entry/207410", "name": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis", "description": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" }, { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ] }, { "disease_id": "DOID:0050660", "recommended_name": { "id": "DOID:0050660", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "BSTVS", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare Stevenson syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata - acanthosis nigricans - craniosynostosis", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome", "description": "" }, { "id": "MIM:123790", "resource": "MIM", "url": "https://www.omim.org/entry/123790", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "Beare-Stevenson cutis gyrata syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" }, { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ] }, { "disease_id": "DOID:0060992", "recommended_name": { "id": "DOID:0060992", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" }, { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": "https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000000000001000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P21802-1" } ], "record_id": "pubmed.12124745", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", 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], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P21802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P21802" }, { "id": "rs121918499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918499" }, { "id": "rs121918499", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121918499" }, { "id": "12400058", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12400058" }, { "id": "9150725", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9150725" }, { "id": "9475591", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9475591" }, { "id": "rs121918499", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121918499" } ], "glycoeffect": [], "start_pos": 290, "end_pos": 290, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "C", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "10", "chr_pos": "121520048", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "W290", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 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"url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:12960", "recommended_name": { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly." }, "synonyms": [ { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "ACS1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type I", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "type I Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalo-syndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "syndactylic oxycephaly", "description": "" }, { "id": "MIM:101200", "resource": "MIM", "url": "https://www.omim.org/entry/101200", "name": "Apert syndrome", "description": "Apert syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ] }, { "disease_id": "DOID:0081290", "recommended_name": { "id": "DOID:0081290", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome." }, "synonyms": [ { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "ABS2", "description": "" }, { "id": "MIM:207410", "resource": "MIM", "url": "https://www.omim.org/entry/207410", "name": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis", "description": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" }, { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ] }, { "disease_id": "DOID:0050660", "recommended_name": { "id": "DOID:0050660", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "BSTVS", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare Stevenson syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata - acanthosis nigricans - craniosynostosis", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome", "description": "" }, { "id": "MIM:123790", "resource": "MIM", "url": "https://www.omim.org/entry/123790", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "Beare-Stevenson cutis gyrata syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" }, { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ] }, { "disease_id": "DOID:0060992", "recommended_name": { "id": "DOID:0060992", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" }, { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": "https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000000000000001000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P21802-1" } ], "record_id": "pubmed.12400058", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis.", "journal": "American journal of medical genetics. 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}, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:12960", "recommended_name": { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly." }, "synonyms": [ { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "ACS1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type I", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "type I Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalo-syndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "syndactylic oxycephaly", "description": "" }, { "id": "MIM:101200", "resource": "MIM", "url": "https://www.omim.org/entry/101200", "name": "Apert syndrome", "description": "Apert syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ] }, { "disease_id": "DOID:0081290", "recommended_name": { "id": "DOID:0081290", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome." }, "synonyms": [ { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "ABS2", "description": "" }, { "id": "MIM:207410", "resource": "MIM", "url": "https://www.omim.org/entry/207410", "name": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis", "description": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" }, { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ] }, { "disease_id": "DOID:0050660", "recommended_name": { "id": "DOID:0050660", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "BSTVS", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare Stevenson syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata - acanthosis nigricans - craniosynostosis", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome", "description": "" }, { "id": "MIM:123790", "resource": "MIM", "url": "https://www.omim.org/entry/123790", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "Beare-Stevenson cutis gyrata syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" }, { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ] }, { "disease_id": "DOID:0060992", "recommended_name": { "id": "DOID:0060992", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" }, { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:1380", "recommended_name": { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus." }, "synonyms": [ { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "endometrial Ca", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "primary malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "tumor of Endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity)." }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "neoplasm of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumor of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumour of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "cancer of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, familial, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", 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(8.2%); patient count (140/1704); protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "10", "chr_pos": "121520163", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S252", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:12960", "recommended_name": { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly." }, "synonyms": [ { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "ACS1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type I", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "type I Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalo-syndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "syndactylic oxycephaly", "description": "" }, { "id": "MIM:101200", "resource": "MIM", "url": "https://www.omim.org/entry/101200", "name": "Apert syndrome", "description": "Apert syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ] }, { "disease_id": "DOID:0081290", "recommended_name": { "id": "DOID:0081290", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome." }, "synonyms": [ { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "ABS2", "description": "" }, { "id": "MIM:207410", "resource": "MIM", "url": "https://www.omim.org/entry/207410", "name": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis", "description": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" }, { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ] }, { "disease_id": "DOID:0050660", "recommended_name": { "id": "DOID:0050660", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "BSTVS", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare Stevenson syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata - acanthosis nigricans - craniosynostosis", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome", "description": "" }, { "id": "MIM:123790", "resource": "MIM", "url": "https://www.omim.org/entry/123790", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "Beare-Stevenson cutis gyrata syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" }, { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ] }, { "disease_id": "DOID:0060992", "recommended_name": { "id": "DOID:0060992", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" }, { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:1380", "recommended_name": { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus." }, "synonyms": [ { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "endometrial Ca", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "primary malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "tumor of Endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity)." }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "neoplasm of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumor of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumour of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "cancer of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, familial, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial carcinoma, somatic", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrium cancer", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant endometrium neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "MIM:608089", "resource": "MIM", "url": "https://www.omim.org/entry/608089", "name": "Endometrial cancer", "description": "Endometrial cancer" } ], "unlinked_id_list": [ "DOID:5166" ], 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:0050331", "recommended_name": { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." }, "synonyms": [ { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "LEVY-HOLLISTER SYNDROME", "description": "" }, { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" }, { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ] }, { "disease_id": "DOID:0081370", "recommended_name": { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "LADD syndrome", "description": "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers." }, "synonyms": [ { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "lacrimoauriculodentodigital syndrome", "description": "" }, { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "Lacrimo-auriculo-dento-digital (LADD) syndrome", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "149730", "database": "MIM", "url": "https://www.omim.org/entry/149730" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears 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"recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:12960", "recommended_name": { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly." }, "synonyms": [ { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "ACS1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type I", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "type I Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalo-syndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "syndactylic oxycephaly", "description": "" }, { "id": "MIM:101200", "resource": "MIM", "url": "https://www.omim.org/entry/101200", "name": "Apert syndrome", "description": "Apert syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ] }, { "disease_id": "DOID:0081290", "recommended_name": { "id": "DOID:0081290", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome." }, "synonyms": [ { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "ABS2", "description": "" }, { "id": "MIM:207410", "resource": "MIM", "url": "https://www.omim.org/entry/207410", "name": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis", "description": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" }, { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ] }, { "disease_id": "DOID:0050660", "recommended_name": { "id": "DOID:0050660", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "BSTVS", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare Stevenson syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata - acanthosis nigricans - craniosynostosis", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome", "description": "" }, { "id": "MIM:123790", "resource": "MIM", "url": "https://www.omim.org/entry/123790", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "Beare-Stevenson cutis gyrata syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" }, { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ] }, { "disease_id": "DOID:0060992", "recommended_name": { "id": "DOID:0060992", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" }, { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", 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"https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000000000001000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P21802-1" } ], "record_id": "pubmed.16969861", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", 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Natl. Acad. Sci. U.S.A.", "date": "2007", "authors": "Lew Erin D, Bae Jae Hyun, Rohmann Edyta, Wollnik Bernd, Schlessinger Joseph", "reference": { "type": "PubMed", "id": "18056630", "url": "https://pubmed.ncbi.nlm.nih.gov/18056630" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21802", "url": "https://www.uniprot.org/uniprotkb/P21802" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121918509", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918509" }, { "id": "rs121918509", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121918509" }, { "id": "16501574", "database": "PubMed", "url": 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mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." }, "synonyms": [ { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "LEVY-HOLLISTER SYNDROME", "description": "" }, { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" }, { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ] }, { "disease_id": "DOID:0081370", "recommended_name": { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "LADD syndrome", "description": "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers." }, "synonyms": [ { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "lacrimoauriculodentodigital syndrome", "description": "" }, { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "Lacrimo-auriculo-dento-digital (LADD) syndrome", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "149730", "database": "MIM", "url": "https://www.omim.org/entry/149730" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "100000000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P21802-1" } ], "record_id": "pubmed.18056630", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": 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Part A", "date": "2008-03-01", "authors": "Fonseca Renata, Costa-Lima Marcelo A, Cosentino Viviana, Orioli I\u00eada M", "reference": { "type": "PubMed", "id": "18247426", "url": "https://pubmed.ncbi.nlm.nih.gov/18247426" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21802", "url": "https://www.uniprot.org/uniprotkb/P21802" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P21802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P21802" }, { "id": "rs121913477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121913477" }, { "id": "rs121913477", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121913477#frequency_tab" }, { "id": "rs121913477", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121913477" }, { "id": "18247426", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18247426" }, { "id": "8696350", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8696350" }, { "id": "rs121913477", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121913477" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 372, "end_pos": 372, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "10", "chr_pos": "121515289", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S372", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:0050660", "recommended_name": { "id": "DOID:0050660", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "BSTVS", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare Stevenson syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata - acanthosis nigricans - craniosynostosis", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome", "description": "" }, { 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The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", 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"P21802-1" }, { "evidence": [ { "id": "rs121918487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918487" }, { "id": "rs121918487", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121918487" }, { "id": "7607643", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7607643" }, { "id": "7719345", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7719345" }, { "id": "7987400", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7987400" } ], "glycoeffect": [], "start_pos": 342, "end_pos": 342, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "10", "chr_pos": "121517378", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C342", "disease": [ { "disease_id": "DOID:12960", "recommended_name": { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly." }, "synonyms": [ { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "ACS1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type I", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "type I Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalo-syndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "syndactylic oxycephaly", "description": "" }, { "id": "MIM:101200", "resource": "MIM", "url": "https://www.omim.org/entry/101200", "name": "Apert syndrome", "description": "Apert syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ] }, { "disease_id": "DOID:0081290", "recommended_name": { "id": "DOID:0081290", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome." }, "synonyms": [ { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "ABS2", "description": "" }, { "id": "MIM:207410", "resource": "MIM", "url": "https://www.omim.org/entry/207410", "name": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis", "description": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" }, { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ] }, { "disease_id": "DOID:0050660", "recommended_name": { "id": "DOID:0050660", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "BSTVS", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare Stevenson syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata - acanthosis nigricans - craniosynostosis", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome", "description": "" }, { "id": "MIM:123790", "resource": "MIM", "url": "https://www.omim.org/entry/123790", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "Beare-Stevenson cutis gyrata syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" }, { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ] }, { "disease_id": "DOID:0060992", "recommended_name": { "id": "DOID:0060992", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" }, { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:0050331", "recommended_name": { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." }, "synonyms": [ { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "LEVY-HOLLISTER SYNDROME", "description": "" }, { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" }, { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ] }, { 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Rutland P, Hockley A D, Wake M J, Goldin J H, Winter R M", "reference": { "type": "PubMed", "id": "7655462", "url": "https://pubmed.ncbi.nlm.nih.gov/7655462" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21802", "url": "https://www.uniprot.org/uniprotkb/P21802" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P21802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P21802" }, { "id": "rs121918501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918501" }, { "id": "rs121918501", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121918501" }, { "id": "7655462", 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"rs121918487", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121918487" }, { "id": "7607643", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7607643" }, { "id": "7719345", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7719345" }, { "id": "7987400", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7987400" } ], "glycoeffect": [], "start_pos": 342, "end_pos": 342, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "10", "chr_pos": "121517378", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C342", "disease": [ { "disease_id": "DOID:12960", "recommended_name": { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly." }, "synonyms": [ { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "ACS1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type I", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "type I Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalo-syndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "syndactylic oxycephaly", "description": "" }, { "id": "MIM:101200", "resource": "MIM", "url": "https://www.omim.org/entry/101200", "name": "Apert syndrome", "description": "Apert syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ] }, { "disease_id": "DOID:0081290", "recommended_name": { "id": "DOID:0081290", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome." }, "synonyms": [ { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "ABS2", "description": "" }, { "id": "MIM:207410", "resource": "MIM", "url": "https://www.omim.org/entry/207410", "name": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis", "description": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" }, { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ] }, { "disease_id": "DOID:0050660", "recommended_name": { "id": "DOID:0050660", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "BSTVS", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare Stevenson syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata - acanthosis nigricans - craniosynostosis", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome", "description": "" }, { "id": "MIM:123790", "resource": "MIM", "url": "https://www.omim.org/entry/123790", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "Beare-Stevenson cutis gyrata syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" }, { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ] }, { "disease_id": "DOID:0060992", "recommended_name": { "id": "DOID:0060992", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" }, { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:0050331", "recommended_name": { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." }, "synonyms": [ { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "LEVY-HOLLISTER SYNDROME", "description": "" }, { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" }, { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ] }, { "disease_id": "DOID:0081370", "recommended_name": { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "LADD syndrome", "description": "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers." }, "synonyms": [ { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "lacrimoauriculodentodigital syndrome", "description": "" }, { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "Lacrimo-auriculo-dento-digital (LADD) syndrome", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "149730", "database": "MIM", "url": "https://www.omim.org/entry/149730" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, 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steroidogenesis" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" }, { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000010000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P21802-1" }, { "evidence": [ { "id": "rs121918487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918487" }, { "id": "rs121918487", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121918487" }, { "id": "7607643", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7607643" }, { "id": "7719345", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7719345" }, { "id": "7987400", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7987400" } ], "glycoeffect": [], "start_pos": 342, "end_pos": 342, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "10", "chr_pos": "121517378", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C342", "disease": [ { "disease_id": "DOID:12960", "recommended_name": { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly." }, "synonyms": [ { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "ACS1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type I", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "type I Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalo-syndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "syndactylic oxycephaly", "description": "" }, { "id": "MIM:101200", "resource": "MIM", "url": "https://www.omim.org/entry/101200", "name": "Apert syndrome", "description": "Apert syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ] }, { "disease_id": "DOID:0081290", "recommended_name": { "id": "DOID:0081290", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome." }, "synonyms": [ { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "ABS2", "description": "" }, { "id": "MIM:207410", "resource": "MIM", "url": "https://www.omim.org/entry/207410", "name": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis", "description": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" }, { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ] }, { "disease_id": "DOID:0050660", "recommended_name": { "id": "DOID:0050660", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "BSTVS", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare Stevenson syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata - acanthosis nigricans - craniosynostosis", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome", "description": "" }, { "id": "MIM:123790", "resource": "MIM", "url": "https://www.omim.org/entry/123790", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "Beare-Stevenson cutis gyrata syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" }, { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ] }, { "disease_id": "DOID:0060992", "recommended_name": { "id": "DOID:0060992", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" }, { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:0050331", "recommended_name": { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." }, "synonyms": [ { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "LEVY-HOLLISTER SYNDROME", "description": "" }, { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" }, { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ] }, { "disease_id": "DOID:0081370", "recommended_name": { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "LADD syndrome", "description": "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers." }, "synonyms": [ { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "lacrimoauriculodentodigital syndrome", "description": "" }, { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "Lacrimo-auriculo-dento-digital (LADD) syndrome", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": 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"https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "ACS1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type I", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "type I Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalo-syndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "syndactylic oxycephaly", "description": "" }, { "id": "MIM:101200", "resource": "MIM", "url": "https://www.omim.org/entry/101200", "name": "Apert syndrome", "description": "Apert syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ] }, { "disease_id": "DOID:0081290", "recommended_name": { "id": "DOID:0081290", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome." }, "synonyms": [ { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "ABS2", "description": "" }, { "id": "MIM:207410", "resource": "MIM", "url": "https://www.omim.org/entry/207410", "name": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis", "description": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" }, { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ] }, { "disease_id": "DOID:0050660", "recommended_name": { "id": "DOID:0050660", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "BSTVS", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare Stevenson syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata - acanthosis nigricans - craniosynostosis", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome", "description": "" }, { "id": "MIM:123790", "resource": "MIM", "url": "https://www.omim.org/entry/123790", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "Beare-Stevenson cutis gyrata syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" }, { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ] }, { "disease_id": "DOID:0060992", "recommended_name": { "id": "DOID:0060992", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" }, { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:1380", "recommended_name": { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus." }, "synonyms": [ { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "endometrial Ca", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "primary malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "tumor of Endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity)." }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "neoplasm of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumor of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumour of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "cancer of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, familial, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial carcinoma, somatic", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrium cancer", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant endometrium neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "MIM:608089", "resource": "MIM", "url": "https://www.omim.org/entry/608089", "name": "Endometrial cancer", "description": "Endometrial cancer" } ], "unlinked_id_list": [ "DOID:5166" ], "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:0050331", "recommended_name": { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." }, "synonyms": [ { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "LEVY-HOLLISTER SYNDROME", "description": "" }, { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" }, { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ] }, { "disease_id": "DOID:0081370", "recommended_name": { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "LADD syndrome", "description": "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers." }, "synonyms": [ { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "lacrimoauriculodentodigital syndrome", "description": "" }, { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "Lacrimo-auriculo-dento-digital (LADD) syndrome", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "149730", "database": "MIM", "url": "https://www.omim.org/entry/149730" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": "https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000000000000100000.00000000000000.000000000001000000.00001.11.000.001", "uniprot_canonical_ac": "P21802-1" }, { "evidence": [ { "id": "P21802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P21802" }, { "id": "rs77543610", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs77543610" }, { "id": "rs77543610", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs77543610#frequency_tab" }, { "id": "11390973", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11390973" }, { "id": "12124745", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12124745" }, { "id": "16969861", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16969861" }, { "id": "8651276", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8651276" }, { "id": "rs77543610", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs77543610" } ], "glycoeffect": [], "start_pos": 253, "end_pos": 253, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "R", "comment": "Somatic mutation passed 2 filters: num. of cancers (4); protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "10", "chr_pos": "121520160", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "P253", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:12960", "recommended_name": { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly." }, "synonyms": [ { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "ACS1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type I", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "type I Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalo-syndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "syndactylic oxycephaly", "description": "" }, { "id": "MIM:101200", "resource": "MIM", "url": "https://www.omim.org/entry/101200", "name": "Apert syndrome", "description": "Apert syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ] }, { "disease_id": "DOID:0081290", "recommended_name": { "id": "DOID:0081290", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome." }, "synonyms": [ { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "ABS2", "description": "" }, { "id": "MIM:207410", "resource": "MIM", "url": "https://www.omim.org/entry/207410", "name": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis", "description": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" }, { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ] }, { "disease_id": "DOID:0050660", "recommended_name": { "id": "DOID:0050660", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "BSTVS", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare Stevenson syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata - acanthosis nigricans - craniosynostosis", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome", "description": "" }, { "id": "MIM:123790", "resource": "MIM", "url": "https://www.omim.org/entry/123790", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "Beare-Stevenson cutis gyrata syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" }, { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ] }, { "disease_id": "DOID:0060992", "recommended_name": { "id": "DOID:0060992", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" }, { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { 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not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:12960", "recommended_name": { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly." }, "synonyms": [ { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "ACS1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type I", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "type I Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalo-syndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "syndactylic oxycephaly", "description": "" }, { "id": "MIM:101200", "resource": "MIM", "url": "https://www.omim.org/entry/101200", "name": "Apert syndrome", "description": "Apert syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ] }, { "disease_id": "DOID:0081290", "recommended_name": { "id": "DOID:0081290", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome." }, "synonyms": [ { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "ABS2", "description": "" }, { "id": "MIM:207410", "resource": "MIM", "url": "https://www.omim.org/entry/207410", "name": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis", "description": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" }, { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ] }, { "disease_id": "DOID:0050660", "recommended_name": { "id": "DOID:0050660", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "BSTVS", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare Stevenson syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata - acanthosis nigricans - craniosynostosis", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome", "description": "" }, { "id": "MIM:123790", "resource": "MIM", "url": "https://www.omim.org/entry/123790", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "Beare-Stevenson cutis gyrata syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" }, { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ] }, { "disease_id": "DOID:0060992", "recommended_name": { "id": "DOID:0060992", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" }, { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": "https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease 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"Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.", "journal": "Human genetics", "date": "1997", "authors": "Tartaglia M, Di Rocco C, Lajeunie E, Valeri S, Velardi F, Battaglia PA", "reference": { "type": "PubMed", "id": "9385368", "url": "https://pubmed.ncbi.nlm.nih.gov/9385368" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21802", "url": "https://www.uniprot.org/uniprotkb/P21802" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121918487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918487" }, { "id": "rs121918487", 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"C342", "disease": [ { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. 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Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", 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"reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9452027", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case.", "journal": "American journal of medical genetics", "date": "1998-01-23", "authors": "Schaefer F, Anderson C, Can B, Say B", "reference": { "type": "PubMed", "id": "9475591", "url": "https://pubmed.ncbi.nlm.nih.gov/9475591" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21802", "url": "https://www.uniprot.org/uniprotkb/P21802" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P21802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P21802" }, { "id": "rs121918499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918499" }, { "id": "rs121918499", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121918499" }, { "id": "12400058", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12400058" }, { "id": "9150725", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9150725" }, { "id": "9475591", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9475591" }, { "id": "rs121918499", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121918499" } ], "glycoeffect": [], "start_pos": 290, "end_pos": 290, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "C", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "10", "chr_pos": "121520048", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "W290", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:12960", "recommended_name": { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly." }, "synonyms": [ { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "ACS1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type I", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "type I Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalo-syndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "syndactylic oxycephaly", "description": "" }, { "id": "MIM:101200", "resource": "MIM", "url": "https://www.omim.org/entry/101200", "name": "Apert syndrome", "description": "Apert syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ] }, { "disease_id": "DOID:0081290", "recommended_name": { "id": "DOID:0081290", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome." }, "synonyms": [ { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "ABS2", "description": "" }, { "id": "MIM:207410", "resource": "MIM", "url": "https://www.omim.org/entry/207410", "name": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis", "description": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" }, { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ] }, { "disease_id": "DOID:0050660", "recommended_name": { "id": "DOID:0050660", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "BSTVS", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare Stevenson syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata - acanthosis nigricans - craniosynostosis", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome", "description": "" }, { "id": "MIM:123790", "resource": "MIM", "url": "https://www.omim.org/entry/123790", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "Beare-Stevenson cutis gyrata syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" }, { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ] }, { "disease_id": "DOID:0060992", "recommended_name": { "id": "DOID:0060992", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" }, { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": "https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000000000000001000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P21802-1" } ], "record_id": "pubmed.9475591", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": 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