UniProt ID | Protein Name | Source |
---|---|---|
Q3T906 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta | |
Q68CP4 | Heparan-alpha-glucosaminide N-acetyltransferase | |
Q8NBK3 | Formylglycine-generating enzyme | |
Q96EG1 | Arylsulfatase G | |
Q99519 | Sialidase-1 | |
Q9UBQ6 | Exostosin-like 2 | |
Q9UJJ9 | N-acetylglucosamine-1-phosphotransferase subunit gamma |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000023 | Inguinal hernia |
HP:0000158 | Macroglossia |
HP:0000238 | Hydrocephalus |
HP:0000256 | Macrocephaly |
HP:0000268 | Dolichocephaly |
HP:0000280 | Coarse facial features |
HP:0000365 | Hearing impairment |
HP:0000501 | Glaucoma |
HP:0000670 | Carious teeth |
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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