Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 46, XY Disorders of Sex Development | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 46 and XY disorder of sex development | ClinVar | | absence epilepsy | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Absence seizures | ClinVar | PMID:10094188 more ... | acanthosis nigricans | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acanthosis nigricans | ClinVar | PMID:11055896 more ... | achondroplasia | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10053006 more ... | Achondroplastic Dwarfism | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achondroplastic dwarfism | ClinVar | PMID:10053006 more ... | acrocephalosyndactylia | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acrocephaly more ... | ClinVar | PMID:10094188 more ... | asphyxiating thoracic dystrophy | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short ribs | ClinVar | PMID:10073901 more ... | autism spectrum disorder | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868 | bladder carcinoma | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Urinary bladder carcinoma | ClinVar | PMID:10471491 more ... | camptodactyly-tall stature-scoliosis-hearing loss syndrome | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10053006 more ... | carcinoma | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Carcinoma | ClinVar | PMID:10053006 more ... | cervical cancer | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10053006 more ... | cherubism | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fibrous dysplasia of jaw | ClinVar | PMID:28492532 | colon carcinoma | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10073901 more ... | colorectal cancer | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10053006 more ... | connective tissue disease | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10073901 more ... | craniosynostosis | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10094188 more ... | Craniosynostosis 3 | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Coronal craniosynostosis | ClinVar | PMID:10094188 more ... | Craniosynostosis Syndrome, Autosomal Recessive | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Craniosynostosis syndrome | ClinVar | PMID:10094188 more ... | Crouzon syndrome | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Crouzon disease | ClinVar | PMID:10094188 more ... | Crouzon syndrome-acanthosis nigricans syndrome | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10053006 more ... | Developmental Disabilities | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | | diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma and H3-wildtype and IDH-wildtype | ClinVar | PMID:25741868 and PMID:28492532 | Dwarfism | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | PMID:10073901 more ... | endometrial carcinoma | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Endometrial carcinoma | ClinVar | | epidermal nevus | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NEVUS more ... | ClinVar | PMID:10053006 more ... | epilepsy | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:10094188 more ... | Facial Asymmetry | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Facial asymmetry | ClinVar | PMID:10094188 more ... | genetic disease | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10094188 more ... | Growth Disorders | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Growth Retardation | ClinVar | PMID:10073901 more ... | Hamartoma | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hamartoma | ClinVar | PMID:10073901 more ... | head and neck squamous cell carcinoma | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar | PMID:10073901 more ... | head and neck squamous cell carcinoma | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar | PMID:10073901 more ... | hepatoblastoma | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hepatoblastoma | ClinVar | PMID:28492532 and PMID:35495172 | Hodgkin's lymphoma | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Classic Hodgkin lymphoma | ClinVar | PMID:28492532 and PMID:32934698 | hypochondroplasia | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypochondroplasia | ClinVar | PMID:10053006 more ... | lacrimoauriculodentodigital syndrome 1 | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Levy-Hollister syndrome | ClinVar | PMID:10053006 more ... | lacrimoauriculodentodigital syndrome 2 | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 2 | ClinVar | | LADD syndrome | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10053006 more ... | Larsen syndrome | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Larsen syndrome | ClinVar | PMID:10360392 more ... | lung adenocarcinoma | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar | PMID:10073901 more ... | lung squamous cell carcinoma | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10073901 more ... | Muenke syndrome | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10053006 more ... | multiple myeloma | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myelomatosis | ClinVar | PMID:10053006 more ... | myeloid neoplasm | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myeloproliferative disorder | ClinVar | PMID:11429702 more ... | Nervous System Malformations | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the nervous system | ClinVar | PMID:10094188 more ... | neuroblastoma | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neuroblastoma | ClinVar | PMID:26822237 | osteochondrodysplasia | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Skeletal dysplasia | ClinVar | PMID:10073901 more ... | papillary renal cell carcinoma | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Papillary renal cell carcinoma and sporadic | ClinVar | PMID:10471491 more ... | Paraproteinemias | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma cell dyscrasia | ClinVar | PMID:10053006 more ... | Pituitary Stalk Interruption Syndrome | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pituitary stalk interruption syndrome | ClinVar | PMID:25741868 | plasma cell neoplasm | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma cell dyscrasia | ClinVar | PMID:10053006 more ... | SADDAN | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10053006 more ... | Saethre-Chotzen syndrome | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Saethre-Chotzen syndrome | ClinVar | PMID:10094188 more ... | sarcoma | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sarcoma | ClinVar | PMID:25741868 and PMID:28492532 | seborrheic keratosis | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Keratosis Seborrheica | ClinVar | PMID:10073901 more ... | spermatocytoma | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spermatocytic seminoma | ClinVar | PMID:10053006 more ... | Sporadic Papillary Renal Cell Carcinoma | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Papillary renal cell carcinoma and sporadic | ClinVar | PMID:10471491 more ... | syndromic microphthalmia 5 | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome | ClinVar | PMID:26467025 more ... | testicular cancer | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cancer of the testes | ClinVar | PMID:10073901 more ... | testicular germ cell cancer | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Germ cell tumor of testis | ClinVar | PMID:10053006 more ... | Testicular Germ Cell Tumor | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Testicular germ cell tumor | ClinVar | PMID:10053006 more ... | thanatophoric dysplasia | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thanatophoric dwarfism | ClinVar | PMID:10053006 more ... | Thanatophoric Dysplasia, Type I | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM and SAN DIEGO TYPE | ClinVar | PMID:10053006 more ... | Thanatophoric Dysplasia, Type II | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10053006 more ... | transitional cell carcinoma | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder | ClinVar | PMID:10073901 more ... | urinary bladder cancer | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10053006 more ... | Urinary Bladder Neoplasm | | ISO | FGFR3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Urinary Bladder Neoplasms | ClinVar | PMID:10053006 more ... | |