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Entry Name Description Category Pathway Gene
H00420 Familial partial lipodystrophy Familial partial lipodystrophy (FPL) is a rare autosomal dominant disorder characterized by variable loss of body fat from the extremities as well as from the truncal region. LMNA, PPARG and AKT2 have ... Inherited metabolic disorder (FPLD2) LMNA [HSA:4000] [KO:K12641]
(FPLD3) PPARG [HSA:5468] [KO:K08530]
(FPLD4) PLIN1 [HSA:5346] [KO:K08768]
(FPLD5) CIDEC [HSA:63924] [KO:K25878]
(FPLD6) LIPE [HSA:3991] [KO:K07188]
(FPLD7) CAV1 [HSA:857] [KO:K06278]
(FPLD8) ADRA2A [HSA:150] [KO:K04138]
(FPLD9) PLAAT3 [HSA:11145] [KO:K16817]
(APLD) LMNB2 [HSA:84823] [KO:K07611]
AKT2 [HSA:208] [KO:K04456]
H00903 Congenital clubfoot
Congenital talipes equinovarus 		Congenital clubfoot is an idiopathic deformity of the lower limb that consists of malalignment of the bones and joints of the foot and ankle. It is defined as a fixation of the foot in a hand-like orientation ... Congenital malformation PITX1 [HSA:5307] [KO:K09356]
H00943 TARP syndrome TARP syndrome is a disorder marked by early lethality. It comprises Talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, glossoptosis, and cleft palate), and persistence of the left ... Congenital malformation RBM10 [HSA:8241] [KO:K13094]
H01661 Xanthoma
Xanthomatosis 		... familial hypercholesterolemia. Prevention of xanthomas goes hand in hand with the management of the underlying disorders of lipid metabolism. Normolipemic xanthomatosis may be seen in several rare conditions. Skin disease; Inherited metabolic disorder
H01784 Primary hyperchylomicronemia ... are a huge increase in plasma triglyceride and cholesterol, and the presence of xanthomatous eruption, lipemia retinalis, hepatosplenomegaly, and the complication of acute pancreatitis. The genetic basis ... Inherited metabolic disorder LPL [HSA:4023] [KO:K01059]
APOC2 [HSA:344] [KO:K22287]
GPIHBP1 [HSA:338328] [KO:K20001]
LMF1 [HSA:64788] [KO:K23555]
APOA5 [HSA:116519] [KO:K09025]
H02064 Atelosteogenesis type I and III ... features that include rhizomelic short limbed dwarfism, thoracic hypoplasia, multiple joint dislocations, talipes equinovarus, and early death. Atelosteogenesis type I (AO1) and type III (AO3) are autosomal dominant ... Congenital malformation FLNB [HSA:2317] [KO:K27392]
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