Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CHARGE syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:18413373 more ... | Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Facial dysmorphism more ... | ClinVar | PMID:30194805 | Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: SHAWAF-TRABOULSI SYNDROME | ClinVar | PMID:25741868 | Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Facial dysmorphism more ... | ClinVar | PMID:31274573 | Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Facial dysmorphism more ... | ClinVar | PMID:25741868 | Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: SHAWAF-TRABOULSI SYNDROME | ClinVar | PMID:25741868 | Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Facial dysmorphism more ... | ClinVar | PMID:25741868 | Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Facial dysmorphism more ... | ClinVar | PMID:25741868 more ... | Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Facial dysmorphism more ... | ClinVar | PMID:25741868 and PMID:28492532 | Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: SHAWAF-TRABOULSI SYNDROME | ClinVar | PMID:25741868 and PMID:28492532 | Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: SHAWAF-TRABOULSI SYNDROME | ClinVar | PMID:25741868 and PMID:28492532 | Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: SHAWAF-TRABOULSI SYNDROME | ClinVar | PMID:25741868 and PMID:28492532 | Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Facial dysmorphism more ... | ClinVar | PMID:25741868 | Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Facial dysmorphism more ... | ClinVar | PMID:25741868 | Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Facial dysmorphism more ... | ClinVar | PMID:25741868 | Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Facial dysmorphism more ... | ClinVar | PMID:25741868 | Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Facial dysmorphism more ... | ClinVar | PMID:25741868 | Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Facial dysmorphism more ... | ClinVar | PMID:25741868 | Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Facial dysmorphism more ... | ClinVar | PMID:25741868 | Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Facial dysmorphism more ... | ClinVar | PMID:25741868 | Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Facial dysmorphism more ... | ClinVar | PMID:11241487 more ... | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | malignant hyperthermia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar | | malignant hyperthermia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar | | malignant hyperthermia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar | | malignant hyperthermia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar | | |