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Entry Name Description Category Pathway Gene
H00479 Metaphyseal dysplasias Metaphyseal dysplasias are very rare skeletal disorders with short limb/short stature phenotypes. Defects in metaphyseal development leads to enlarged metaphyses of long bones that tend to fracture in ... Congenital malformation (MCDS) COL10A1 [HSA:1300] [KO:K19479]
(CHH) RMRP [HSA:6023] [KO:K14576]
(MCDJ) PTH1R [HSA:5745] [KO:K04585]
(PYL) SFRP4 [HSA:6424] [KO:K02185]
(MANDP1) MMP13 [HSA:4322] [KO:K07994]
(MANDP2) MMP9 [HSA:4318] [KO:K01403]
H00589 Familial exudative vitreoretinopathy ... detachment, and in many cases the creation of a fibrovascular membrane located behind the lens. Mutations in NDP, FZD4, and LRP5 have been reported to be responsible for ophthalmic diseases including Norrie disease ... Nervous system disease (EVR1) FZD4 [HSA:8322] [KO:K02354]
(EVR2) NDP [HSA:4693] [KO:K25688]
(EVR4) LRP5 [HSA:4041] [KO:K03068]
(EVR5) TSPAN12 [HSA:23554] [KO:K17355]
(EVR6) ZNF408 [HSA:79797] [KO:K24372]
(EVR7) CTNNB1 [HSA:1499] [KO:K02105]
H01688 Rapidly progressive glomerulonephritis ... glomerulus. This causes hematuria, albuminuria and loss of renal function. From an immunopathologic standpoint, primary RPGN is divided into pauci-immune GN (PICG), anti-glomerular basement membrane antibody ... Urinary system disease
H02045 Norrie disease Norrie disease is a severe X-linked recessive form of congenital blindness, which in about one-half of the cases is accompanied by mental retardation and deafness. Mutations in NDP have been reported. Congenital malformation NDP [HSA:4693] [KO:K25688]
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