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Diseases
Genes (621)
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PQBP1
Ankylosis
Contracture
Renpenning's Syndrome
TTPA
Hammer Toe
Familial Isolated Vitamin E Deficiency
SLC6A19
Hartnup Disease
IFIH1
Singleton Merten Syndrome
SMARCD1
Foot Deformity
Hand Deformity
PIGB
Foot Deformity
Hand Deformity
FGFR2
Hallux Varus
Joint Stiffness
Ankylosis
TRPV4
Joint Stiffness
Foot Deformity
Hammer Toe
Contracture
Coxa Vara
Unequal Leg Length
FBN1
Hallux Varus
Joint Stiffness
Genu Recurvatum
Hammer Toe
COL2A1
Joint Stiffness
Foot Deformity
Contracture
Coxa Vara
Unequal Leg Length
RB1
Pinealoblastoma
Trilateral Retinoblastoma
ADAMTSL2
Joint Stiffness
Contracture
ANTXR2
Joint Stiffness
Contracture
COL1A1
Joint Stiffness
Contracture
Coxa Vara
PRG4
Contracture
Coxa Vara
LMNA
Joint Stiffness
Foot Deformity
Ankylosis
Contracture
IL6
Aseptic Meningitis
Familial Isolated Vitamin E Deficiency
DDX58
Singleton Merten Syndrome
EIF4A3
Hand Deformity
TRIP11
Foot Deformity
Hand Deformity
Genu Recurvatum