Pfeiffer syndrome

Disease Term Disease ID Gene Symbol Classification References Source
PFEIFFER SYNDROME
101600C0220658MONDO:0007043
FGFR1 Causal
10945669 9586546 7719345 9002682 8841188 8434615 10394936 15523615 7874169 9150725 11807866
ClinVar Disgenet GWAS catalog HPO
FGFR2 Causal
7719333 9150725 9457499 9475591 10394936 10731087 10945669 11380927 11556600 11807866
ClinGen ClinVar Disgenet HPO
MDM4 Unknown — Disgenet
PFEIFFER SYNDROME TYPE 1
93258MONDO:0019659C5438812
FGFR1 Unknown
10861678 10942429 14564217 14613973 16957473 20301628 21538817 23348274 24127277 24776567 25251565 7874169
ClinGen GWAS catalog Orphanet
FGFR2 Unknown
20301628
GWAS catalog Orphanet
PFEIFFER SYNDROME TYPE 2
93259C5438849MONDO:0019660
FGFR2 Unknown
20301628
CTD Disgenet Orphanet
PFEIFFER SYNDROME TYPE 3
93260MONDO:0019661C5438850
FGFR2 Causal
20301628
GenCC Orphanet
PFEIFFER TYPE ACROCEPHALOSYNDACTYLY
MESH:C538582
FGFR1 Unknown — CTD
FGFR2 Unknown — CTD