HPO ID | HPO Term |
---|---|
HP:0000943 | Dysostosis multiplex |
HP:0002808 | Kyphosis |
HP:0000007 | Autosomal recessive inheritance |
HP:0001659 | Aortic regurgitation |
HP:0003333 | Increased serum beta-hexosaminidase |
HP:0000470 | Short neck |
HP:0004322 | Short stature |
HP:0001249 | Intellectual disability |
HP:0002829 | Arthralgia |
HP:0008155 | Mucopolysacchariduria |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024