Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | amenorrhea | | ISO | BMP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary amenorrhea | ClinVar | PMID:21681106 | APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS | | ISO | BMP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aplasia/hypoplasia involving bones of the lower limbs | ClinVar | | cleft lip | | ISO | BMP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate and Autosomal Dominant | ClinVar | PMID:12404109 more ... | dystonia 5 | | ISO | BMP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dystonia 5 | ClinVar | PMID:17111153 more ... | genetic disease | | ISO | BMP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:19249007 more ... | hereditary spastic paraplegia 28 | | ISO | BMP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 | ClinVar | PMID:28492532 | Kapur Toriello Syndrome | | ISO | BMP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kapur-Toriello syndrome | ClinVar | PMID:25741868 | orofacial cleft | | ISO | BMP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Orofacial cleft | ClinVar | | orofacial cleft 11 | | ISO | BMP4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12404109 more ... | Peters anomaly | | ISO | BMP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis | ClinVar | PMID:25741868 | syndromic microphthalmia | | ISO | BMP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic Microphthalmia and Dominant | ClinVar | PMID:25741868 and PMID:28492532 | syndromic microphthalmia 6 | | ISO | BMP4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12404109 more ... | tooth agenesis | | ISO | BMP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tooth agenesis | ClinVar | | |