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Genes Phenotypes Help, News, Blog

Disease: Pfeiffer Syndrome

Name
Pfeiffer Syndrome
Synonmys
ACROCEPHALOSYNDACTYLY, TYPE V; ACS5 , ACS V , NOACK SYNDROME | CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED
Classification
bone, developmental, eye, genetic
Associated Genes
FGFR1 (Withdrawn symbols: BFGFR, CD331, CEK, FLG, FLT2, H2, H3, H4, H5, KAL2, N-SAM ) , FGFR2 (Withdrawn symbols: BEK, CD332, CEK3, CFD1, ECT1, JWS, K-SAM, KGFR, TK14, TK25 )
Mouse Orthologs
Fgfr1 (Withdrawn symbols: AW208770, Eask, Fgfr-1, Flt-2, Hspy ) , Fgfr2 (Withdrawn symbols: AU043015, AW556123, Bek, Fgfr-2, Fgfr-7, Fgfr7, svs )
Source
OMIM:101600 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Models

Learn about how to interpret our results in the Disease Models Help pages

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