UniProt ID | Protein Name | Source |
---|---|---|
O60502 | Protein O-GlcNAcase | |
P10619 | Lysosomal protective protein | |
P16278 | Beta-galactosidase | |
P34059 | N-acetylgalactosamine-6-sulfatase | |
P35475 | Alpha-L-iduronidase | |
Q99519 | Sialidase-1 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000023 | Inguinal hernia |
HP:0000154 | Wide mouth |
HP:0000280 | Coarse facial features |
HP:0000303 | Mandibular prognathia |
HP:0000365 | Hearing impairment |
HP:0000670 | Carious teeth |
HP:0000683 | Grayish enamel |
HP:0000687 | Widely spaced teeth |
HP:0000884 | Prominent sternum |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024