UniProt ID | Protein Name | Source |
---|---|---|
P22413 | Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 | |
P35475 | Alpha-L-iduronidase | |
Q14435 | Polypeptide N-acetylgalactosaminyltransferase 3 |
HPO ID | HPO Term |
---|---|
HP:0003020 | Enlargement of the wrists |
HP:0100511 | Abnormality of vitamin D metabolism |
HP:0002024 | Malabsorption |
HP:0005764 | Polyarticular arthritis |
HP:0001250 | Seizure |
HP:0011001 | Increased bone mineral density |
HP:0002812 | Coxa vara |
HP:0100781 | Abnormal sacroiliac joint morphology |
HP:0004322 | Short stature |
HP:0000407 | Sensorineural hearing impairment |
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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