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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] |
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| 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] |
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| 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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