Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | alopecia-mental retardation syndrome 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 | ClinVar | PMID:28492532 and PMID:30401459 | alopecia-mental retardation syndrome 4 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 | ClinVar | PMID:25741868 | alopecia-mental retardation syndrome 4 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 | ClinVar | PMID:25741868 and PMID:28492532 | alopecia-mental retardation syndrome 4 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 | ClinVar | | alopecia-mental retardation syndrome 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alopecia-mental retardation syndrome 4 | ClinVar | PMID:17576681 more ... | alopecia-mental retardation syndrome 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 | ClinVar | PMID:25741868 more ... | alopecia-mental retardation syndrome 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 | ClinVar | PMID:25741868 more ... | autistic disorder | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | Axenfeld-Rieger syndrome type 3 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 | ClinVar | PMID:11170889 and PMID:21681106 | cataract | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital cataract | ClinVar | PMID:25741868 | cataract 44 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Cataract 44 | ClinVar | | cataract 44 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Cataract 44 | ClinVar | PMID:25741868 | cataract 44 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Cataract 44 | ClinVar | PMID:25741868 and PMID:28492532 | cataract 9 multiple types | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cataract 9 multiple types | ClinVar | PMID:28492532 | developmental and epileptic encephalopathy 30 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 30 | ClinVar | PMID:28492532 and PMID:8596935 | developmental and epileptic encephalopathy 30 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 30 | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) more ... | 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:25741868 and PMID:28492532 | homocystinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA more ... | ClinVar | PMID:10338090 more ... | hypotrichosis 14 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypotrichosis 14 | ClinVar | PMID:25741868 | hypotrichosis 14 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Hypotrichosis 14 | ClinVar | | hypotrichosis 14 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypotrichosis 14 | ClinVar | PMID:25741868 more ... | hypotrichosis 14 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypotrichosis 14 | ClinVar | PMID:25741868 more ... | hypotrichosis 14 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypotrichosis 14 | ClinVar | PMID:25741868 more ... | primary ciliary dyskinesia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary ciliary dyskinesia | ClinVar | PMID:28492532 | progressive myoclonus epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar | PMID:28492532 and PMID:8596935 | |