Statements (17)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
autosomal recessive disease |
| gptkbp:causedBy |
mutation in LRP2 gene
|
| gptkbp:frequency |
very rare
|
| gptkbp:hasOrphanetID |
gptkb:ORPHA:2101
|
| https://www.w3.org/2000/01/rdf-schema#label |
MPL syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
610422
|
| gptkbp:symptom |
myopia
skeletal abnormalities mental retardation progressive hearing loss lenticonus phthisis bulbi |
| gptkbp:synonym |
Mental retardation, Phthisis bulbi, and Lenticonus syndrome
|
| gptkbp:bfsParent |
gptkb:Marfanoid–progeroid–lipodystrophy_syndrome
|
| gptkbp:bfsLayer |
7
|