Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ARTERIAL DISSECTION | | ISO | RGD:11039920 | 9068941 | ClinVar Annotator: match by term: Arterial dissection | ClinVar | | Bartter disease type 1 | | ISO | RGD:10411481 | 9068941 | ClinVar Annotator: match by term: Hyperprostaglandin E syndrome 1 | ClinVar | PMID:25326637, PMID:28492532 | connective tissue disease | | ISO | RGD:13495629 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868, PMID:28492532 | connective tissue disease | | ISO | RGD:9686453 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:24899048 more ... | connective tissue disease | | ISO | RGD:8691082 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868 | connective tissue disease | | ISO | RGD:10411122 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868 | connective tissue disease | | ISO | RGD:13703586 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868 | connective tissue disease | | ISO | RGD:10410624 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868 more ... | connective tissue disease | | ISO | RGD:13796532 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868 | connective tissue disease | | ISO | RGD:8691077 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:24033266 more ... | connective tissue disease | | ISO | RGD:10409063 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868, PMID:28492532 | connective tissue disease | | ISO | RGD:8691060 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:17935258 more ... | connective tissue disease | | ISO | RGD:13703602 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868, PMID:28492532 | connective tissue disease | | ISO | RGD:10409083 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868, PMID:28492532 | connective tissue disease | | ISO | RGD:8691103 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868, PMID:28492532 | connective tissue disease | | ISO | RGD:11546078 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868 | connective tissue disease | | ISO | RGD:8691059 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868, PMID:28492532 | connective tissue disease | | ISO | RGD:8691104 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868 | connective tissue disease | | ISO | RGD:8691098 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868, PMID:28492532 | connective tissue disease | | ISO | RGD:13703603 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868 | connective tissue disease | | ISO | RGD:11637764 | 9068941 | ClinVar Annotator: match by term: Connective tissue disease | ClinVar | PMID:25741868, PMID:28492532 | connective tissue disease | | ISO | RGD:8691062 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868, PMID:28492532 | connective tissue disease | | ISO | RGD:10410857 | 9068941 | ClinVar Annotator: match by term: Connective tissue disease | ClinVar | PMID:24833718, PMID:25741868 | connective tissue disease | | ISO | RGD:13703600 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868 | connective tissue disease | | ISO | RGD:10409850 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868, PMID:28492532 | connective tissue disease | | ISO | RGD:13703588 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868 | connective tissue disease | | ISO | RGD:8691071 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868 | connective tissue disease | | ISO | RGD:10410428 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868, PMID:28492532 | connective tissue disease | | ISO | RGD:10409086 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868, PMID:28492532 | connective tissue disease | | ISO | RGD:13703598 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868, PMID:28492532 | connective tissue disease | | ISO | RGD:8691083 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868 | connective tissue disease | | ISO | RGD:9586839 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:24033266 more ... | connective tissue disease | | ISO | RGD:8691065 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868, PMID:28492532 | connective tissue disease | | ISO | RGD:13704410 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868 | connective tissue disease | | ISO | RGD:13703595 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868 | connective tissue disease | | ISO | RGD:8691099 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868, PMID:28492532 | connective tissue disease | | ISO | RGD:10411631 | 9068941 | ClinVar Annotator: match by term: Connective tissue disease | ClinVar | PMID:16835936 more ... | connective tissue disease | | ISO | RGD:10409560 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868, PMID:28492532 | connective tissue disease | | ISO | RGD:13703590 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868 | connective tissue disease | | ISO | RGD:13616529 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868, PMID:28492532 | connective tissue disease | | ISO | RGD:8691102 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:16835936 more ... | connective tissue disease | | ISO | RGD:10410188 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868 | connective tissue disease | | ISO | RGD:8691063 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868, PMID:28492532 | connective tissue disease | | ISO | RGD:8691085 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:24033266 more ... | connective tissue disease | | ISO | RGD:10411264 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868, PMID:28492532 | connective tissue disease | | ISO | RGD:11543349 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868 | connective tissue disease | | ISO | RGD:12838129 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868, PMID:28492532 | connective tissue disease | | ISO | RGD:13798012 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868 | connective tissue disease | | ISO | RGD:13796533 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868, PMID:28492532 | connective tissue disease | | ISO | RGD:8691069 | 9068941 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868, PMID:28492532 | craniosynostosis | | ISO | RGD:10410270 | 9068941 | ClinVar Annotator: match by term: Craniosynostosis | ClinVar | PMID:28492532 | Craniosynostosis Syndrome, Autosomal Recessive | | ISO | RGD:10410270 | 9068941 | ClinVar Annotator: match by term: Craniosynostosis syndrome | ClinVar | PMID:28492532 | Developmental Disabilities | | ISO | RGD:39458158 | 9068941 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:30311386 | distal arthrogryposis type 7 | | ISO | RGD:9586840 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:24833718, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:13534505 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10409771 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868 more ... | distal arthrogryposis type 7 | | ISO | RGD:8691103 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:11545652 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:12884092 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8691093 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8659546 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8691077 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:24033266 more ... | distal arthrogryposis type 7 | | ISO | RGD:10410270 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10409077 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:13472362 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10411481 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25326637, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8640936 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:24033266 more ... | distal arthrogryposis type 7 | | ISO | RGD:13490507 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:19006240 more ... | distal arthrogryposis type 7 | | ISO | RGD:8659558 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:18414213 more ... | distal arthrogryposis type 7 | | ISO | RGD:11546454 | 9068941 | ClinVar Annotator: match by term: Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:13529145 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:11546136 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:11347254 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10410166 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:11659188 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:11543508 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8691088 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:13534480 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10410480 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:11548351 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8691068 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:13535070 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:11548715 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8691063 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:12839100 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8659549 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10409172 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:13528313 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10409662 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10410967 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8659543 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10411007 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:13528746 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8659556 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:18414213 more ... | distal arthrogryposis type 7 | | ISO | RGD:11549512 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:11550743 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10411474 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8691084 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10411269 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10409525 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10409560 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8691064 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:11550734 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | | distal arthrogryposis type 7 | | ISO | RGD:11545272 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10411543 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10410275 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10411602 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8691101 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8659555 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:17345643 more ... | distal arthrogryposis type 7 | | ISO | RGD:11545302 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868 | distal arthrogryposis type 7 | | ISO | RGD:8659551 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:18414213 more ... | distal arthrogryposis type 7 | | ISO | RGD:10411286 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8691079 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:13533338 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:13533381 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:11754102 more ... | distal arthrogryposis type 7 | | ISO | RGD:8659553 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:18414213 more ... | distal arthrogryposis type 7 | | ISO | RGD:8691066 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:11660779 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:11347035 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:13533614 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10411021 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:11348185 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10410624 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868 more ... | distal arthrogryposis type 7 | | ISO | RGD:8659544 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:24033266, PMID:25741868 | distal arthrogryposis type 7 | | ISO | RGD:10409613 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:24899048, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10411232 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25944730, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:11545788 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | | distal arthrogryposis type 7 | | ISO | RGD:8691069 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:13529672 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8659554 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:24033266 more ... | distal arthrogryposis type 7 | | ISO | RGD:8659560 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:18414213 more ... | distal arthrogryposis type 7 | | ISO | RGD:10410750 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10409476 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:13534662 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:12890205 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:16677079 more ... | distal arthrogryposis type 7 | | ISO | RGD:10410670 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:12884641 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10411095 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8659548 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:24033266 more ... | distal arthrogryposis type 7 | | ISO | RGD:13534726 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10410894 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | | distal arthrogryposis type 7 | | ISO | RGD:10411047 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10410866 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10049411 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:11546813 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10410072 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8691060 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:17935258 more ... | distal arthrogryposis type 7 | | ISO | RGD:8691102 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:16835936 more ... | distal arthrogryposis type 7 | | ISO | RGD:10410756 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8659557 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8659561 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10409301 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10411631 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:16835936 more ... | distal arthrogryposis type 7 | | ISO | RGD:10409042 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:11348462 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:26133393, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10410952 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10410755 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10410277 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:9586839 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:24033266 more ... | distal arthrogryposis type 7 | | ISO | RGD:9686453 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:24899048 more ... | distal arthrogryposis type 7 | | ISO | RGD:11545783 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8659547 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:17345643 more ... | distal arthrogryposis type 7 | | ISO | RGD:10409015 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8691097 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:13529650 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8691094 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8659542 | 9068941 | ClinVar Annotator: match by term: Hecht syndrome | ClinVar | PMID:24033266, PMID:25741868 | distal arthrogryposis type 7 | | ISO | RGD:8691085 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:24033266 more ... | distal arthrogryposis type 7 | | ISO | RGD:13527155 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10409502 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8659550 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10409063 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:11660642 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:11546985 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:11039999 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10410395 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8659559 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10409086 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10409083 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:11548877 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10411139 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8691080 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8691061 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:11544370 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:13477347 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10410428 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10410628 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8691074 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:24033266 more ... | distal arthrogryposis type 7 | | ISO | RGD:10410975 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:8691098 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:25741868, PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:10410801 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | distal arthrogryposis type 7 | | ISO | RGD:13529999 | 9068941 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:28492532 | Familial Thoracic Aortic Aneurysm 2 | | ISO | RGD:13511492 | 9068941 | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 | ClinVar | | genetic disease | | ISO | RGD:11348676 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | ISO | RGD:10410510 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25326637 | genetic disease | | ISO | RGD:11060058 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10797416 more ... | genetic disease | | ISO | RGD:13532091 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | ISO | RGD:40886981 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | ISO | RGD:40887755 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:8653794 | Hereditary Neoplastic Syndromes | | ISO | RGD:13487787 | 9068941 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:28492532 | High Myopia | | ISO | RGD:14696126 | 9068941 | ClinVar Annotator: match by term: Severe Myopia | ClinVar | | intracranial aneurysm | | ISO | RGD:10411631 | 9068941 | ClinVar Annotator: match by term: Brain Aneurysm | ClinVar | PMID:16835936 more ... | Loeys-Dietz syndrome | | ISO | RGD:13511492 | 9068941 | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar | | Loeys-Dietz syndrome | | ISO | RGD:10409172 | 9068941 | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar | PMID:25741868, PMID:28492532 | Marfan syndrome | | ISO | RGD:12743377 | 9068941 | ClinVar Annotator: match by term: Marfan syndrome | ClinVar | PMID:25741868 | Marfan syndrome | | ISO | RGD:11040376 | 9068941 | ClinVar Annotator: match by term: Marfan syndrome | ClinVar | | Marfanoid Mental Retardation Syndrome, Autosomal | | ISO | RGD:14978340 | 9068941 | ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability | ClinVar | PMID:25741868 | Neurodevelopmental Disorders | | ISO | RGD:14698291 | 9068941 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | Neurodevelopmental Disorders | | ISO | RGD:40889587 | 9068941 | ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar | | Neurodevelopmental Disorders | | ISO | RGD:13616569 | 9068941 | ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar | PMID:28492532 | Perinatal Death | | ISO | RGD:9850342 | 9068941 | ClinVar Annotator: match by term: Neonatal death | ClinVar | PMID:25558065 | prostate cancer | | ISO | RGD:9686906 | 9068941 | ClinVar Annotator: match by term: Prostate cancer | ClinVar | PMID:23265383 | thoracic aortic aneurysm | | ISO | RGD:9832367 | 9068941 | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar | | thoracic aortic aneurysm | | ISO | RGD:10411139 | 9068941 | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar | PMID:28492532 | thoracic aortic aneurysm | | ISO | RGD:9586840 | 9068941 | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar | PMID:24833718, PMID:28492532 | thoracic aortic aneurysm | | ISO | RGD:11040103 | 9068941 | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar | | thoracic aortic aneurysm | | ISO | RGD:11040024 | 9068941 | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar | | thoracic aortic aneurysm | | ISO | RGD:11551388 | 9068941 | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar | PMID:28492532 | thoracic aortic aneurysm | | ISO | RGD:11039932 | 9068941 | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar | | thoracic aortic aneurysm | | ISO | RGD:9586839 | 9068941 | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar | PMID:24033266 more ... | thoracic aortic aneurysm | | ISO | RGD:11039999 | 9068941 | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar | PMID:28492532 | |
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