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Diseases
Genes (663)
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TTPA
Familial Isolated Vitamin E Deficiency
PQBP1
Ankylosis
Renpenning's Syndrome
SLC17A5
Foot Deformity
Salla Disease
FMR1
Renpenning's Syndrome
Fg Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
FLNA
Joint Stiffness
Intestinal Neuronal Dysplasia
Fg Syndrome
Winged Scapula
PMM2
Pmm2 Deficiency
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
UMOD
Medullary Cystic Kidney Disease
UBE3B
Kaufman Oculocerebrofacial Syndrome
SMARCD1
Foot Deformity
Hand Deformity
PIGB
Foot Deformity
Hand Deformity
ASS1
Citrullinemia Type I
FGFR2
Hallux Varus
Ankylosis
Joint Stiffness
LEMD3
Joint Stiffness
Pmm2 Deficiency
Melorheostosis
GNE
Salla Disease
Winged Scapula
LMNA
Ankylosis
Foot Deformity
Joint Stiffness
Fragile X-Associated Tremor/ataxia Syndrome
Winged Scapula
RB1
Pinealoblastoma
Trilateral Retinoblastoma
TRPV4
Foot Deformity
Joint Stiffness
Unequal Leg Length
Winged Scapula
PTPN22
Joint Stiffness
Giant Cell Arteritis