ACROCEPHALOSYNDACTYLY, TYPE V; ACS5 ,
ACS V ,
NOACK SYNDROME | CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED
bone,
developmental,
eye,
genetic
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(Withdrawn symbols: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(Withdrawn symbols: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
)
Fgfr1
(Withdrawn symbols:
AW208770,
Eask,
Fgfr-1,
Flt-2,
Hspy
)
,
Fgfr2
(Withdrawn symbols:
AU043015,
AW556123,
Bek,
Fgfr-2,
Fgfr-7,
Fgfr7,
svs
)
OMIM:101600 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)