{ "title": "A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.", "journal": "American journal of human genetics", "date": "1999", "authors": "Tavormina PL, Bellus GA, Webster MK, Bamshad MJ, Fraley AE, McIntosh I, Szabo J, Jiang W, Jabs EW, Wilcox WR, Wasmuth JJ, Donoghue DJ, Thompson LM, Francomano CA", "reference": { "type": "PubMed", "id": "10053006", "url": "https://pubmed.ncbi.nlm.nih.gov/10053006" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P31371-1", "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10767-1", "protein_name": "Fibroblast growth factor 6", "gene_name": "FGF6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP95-1", "protein_name": "Fibroblast growth factor 20", "gene_name": "FGF20", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31371", "url": "https://www.uniprot.org/uniprot/P31371" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121913105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121913105" }, { "id": "rs121913105", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121913105#frequency_tab" }, { "id": "rs121913105", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121913105" }, { "id": "10053006", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10053006" }, { "id": "10671061", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10671061" }, { "id": "11745189", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11745189" }, { "id": "12237885", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12237885" }, { "id": "12743143", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12743143" }, { "id": "14678961", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14678961" }, { "id": "15026322", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15026322" }, { "id": "15772091", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15772091" }, { "id": "16040860", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16040860" }, { "id": "16778799", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16778799" }, { "id": "17392824", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17392824" }, { "id": "17585316", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17585316" }, { "id": "18076102", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18076102" }, { "id": "18503601", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18503601" }, { "id": "21533174", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/21533174" }, { "id": "9207791", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9207791" }, { "id": "rs1448029825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1448029825" }, { "id": "rs1448029825", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1448029825" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 650, "end_pos": 650, "sequence_org": "K", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 1 filters: o-glyco-site-loss (K->M).", "chr_id": "4", "chr_pos": "1806163", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K650", "disease": [ { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "Achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "Achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "Achondroplastic physique", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "chondrodystrophia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "Achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly, tall stature, and hearing loss syndrome", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://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": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "can", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus sebaceous", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, Keratinocytic, nonepidermolytic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, wooly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "embryonal cell carcinoma", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumors", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "seminoma", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "teratoma, testicular", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell cancer", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ] }, { "disease_id": "DOID:6498", "recommended_name": { "id": "DOID:6498", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6498", "name": "seborrheic keratosis", "description": "" }, "synonyms": [ { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "seborrheic keratosis", "description": "A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions." }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "basal cell papilloma", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis Seborrheica", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis, seborrheic, somatic", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis, seborrheic", "description": "" }, { "id": "MIM:182000", "resource": "MIM", "url": "https://www.omim.org/entry/182000", "name": "Keratosis, seborrheic", "description": "Keratosis, seborrheic" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { 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"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", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] }, { "disease_id": "DOID:0060703", 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