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Diseases
Genes (643)
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PQBP1
Ankylosis
Contracture
Renpenning's Syndrome
TTPA
Hammer Toe
Familial Isolated Vitamin E Deficiency
IFIH1
Singleton Merten Syndrome
SMARCD1
Foot Deformity
Hand Deformity
PIGB
Foot Deformity
Hand Deformity
ASS1
Citrullinemia Type I
CD55
Protein Losing Enteropathy
FGFR2
Hallux Varus
Joint Stiffness
Ankylosis
TRPV4
Foot Deformity
Joint Stiffness
Hammer Toe
Contracture
Coxa Vara
Unequal Leg Length
PTEN
Joint Stiffness
Genu Recurvatum
Thrombophlebitis
Protein Losing Enteropathy
Unequal Leg Length
FBN1
Hallux Varus
Joint Stiffness
Genu Recurvatum
Hammer Toe
COL2A1
Foot Deformity
Joint Stiffness
Contracture
Coxa Vara
Unequal Leg Length
COL1A1
Fibrous Dysplasia Of Bone
Joint Stiffness
Contracture
Coxa Vara
RB1
Pinealoblastoma
Trilateral Retinoblastoma
ADAMTSL2
Joint Stiffness
Contracture
ANTXR2
Joint Stiffness
Contracture
PRG4
Contracture
Coxa Vara
FLNA
Joint Stiffness
Intestinal Neuronal Dysplasia
LMNA
Foot Deformity
Joint Stiffness
Ankylosis
Contracture
DDX58
Singleton Merten Syndrome